Objective Current autosomal short tandem repeat(STR)assays can analyze the zygotic composition by comparing the allelic genes at each locus of complete hydatidiform moles(CHM),with a maternal genotype serving as an es...Objective Current autosomal short tandem repeat(STR)assays can analyze the zygotic composition by comparing the allelic genes at each locus of complete hydatidiform moles(CHM),with a maternal genotype serving as an essential reference for comparative analysis.However,their application in pathology represents a challenge because of deficiency or contamination of maternal-origin tissues.This study aimed to develop a novel STR genotyping method for identifying CHM genotypes without a maternal component.Methods Samples with the pathologic description of molar pregnancy were collected.Routine hematoxylin–eosin(HE)staining and p57 immunohistochemistry staining were conducted in accordance with standard guidelines.A novel 26-plex system was explored to classify CHM and diploid pregnancies.The system combined 22 STRs on chromosomes 21/18/13/X,3 sex loci,and 1 quality control marker(TAF9L),enabling molecular diagnosis in the absence of maternal tissue.At last,traditional DNA typing based on villi and decidua(maternal component)of each case was used for result consistency analysis.Results CHM and nonmolar abortus could not be distinguished by the basic HE staining with no fetal evidence or other prominent features.DNA typing was successfully processed for all cases according to the novel 26-plex and traditional system.CHM(46XX)diagnosis required single A-STR/X-STR peaks and absent Y-chromosome markers,excluding chromosomal abnormalities via TAF9L analysis.When the villous tissue analysis revealed single peaks at X-STR/SRY loci,a 1:1 amelogenin ratio,and a 2:1 TAF9L peak ratio,these results overlapped with those of 46XY hydropic abortus or CHM.Notably,p57 immunohistochemical staining resolved the ambiguity.Consistency with traditional DNA genotyping confirmed system accuracy.This multiplex assay enhanced reliability in mole diagnosis,supporting clinical differentiation and genetic counseling.Conclusion This study presents a rapid and cost-effective assay for the genotypic identification of CHM without the need for a maternal component.The method combined the characteristics of STR loci distributed across different chromosomes and developed the clinic application of forensic biomarkers.展开更多
<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidifor...<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidiform mole (CHM) and partial HM (PHM) in products of conception (POC) and amniotic fluid (AF) specimens, and 2) frequency of whole-genome uniparental disomy (wgUPD) and triploidy in POC and AF specimens received at a US national reference laboratory.</span><span "=""> </span><b><span>Methods:</span></b><span> We reviewed consecutive 2138 POC and 3230 AF specimens and identified the cases with wgUPD and triploidy which are associated with molar pregnancy.</span><span "=""> </span><b><span>Results:</span></b><span "=""><span> Of 2138 consecutive POC specimens tested, SNP-based CMA detected wgUPD in 10 (0.47%) and triploidy in 84 (3.93%). Of the 10 wgUPD cases, 9 (90%) were confirmed as CHM. Of 3230 consecutive AF specimens, the array detected wgUPD in 1 case (0.03%) and triploidy in 11 (0.34%). </span><b><span>Conclusions:</span></b><span> SNP-based microarray allows detection of wgUPD in POC and AF specimens at a US national reference laboratory. Correctly diagnosing HM and differentiating CHM from PHM </span></span><span>are</span><span> important for clinical management. The effective SNP-based CMA detection of wgUPD in CHM may enable physicians to monitor patients at risk for gestational trophoblastic disease and neoplasm.</span><span "=""> </span><span "=""><span>Conventional chromosome analysis of POC has a high </span><span>failure rate, cannot be performed on formalin-fixed paraffin embedded samples, and cannot detect wgUPD. Further</span></span><span "=""> </span><span>multi-institutional collaborative assessmen</span><span> on accuracy, cost-effectiveness, and adequate access to SNP-based CMA, may lead this testing platform to be considered as the first-tier analysis tool for POC specimens, including those showing PHM or CHM.展开更多
BACKGROUND Cesarean scar molar pregnancy is extremely rare,but the incidence has been rising due to the continuous increase in the rate of cesarean section.The presence of a hydatidiform mole in the scar left on the u...BACKGROUND Cesarean scar molar pregnancy is extremely rare,but the incidence has been rising due to the continuous increase in the rate of cesarean section.The presence of a hydatidiform mole in the scar left on the uterus by the procedure may lead to severe complications.We performed a literature review and found only seven reported cases of cesarean scar molar pregnancy.Accurate diagnosis and appropriate treatment are extremely important for the patients’prognosis.CASE SUMMARY A 35-year-old woman,gravida 4,para 1,complained of vaginal bleeding lasting more than 1 mo and amenorrhea lasting more than 2 mo.The patient’s serum human chorionic gonadotropin was 4287800 IU/L.Ultrasound showed a 11.5 cm×7.5 cm mass at the anterior lower wall of the uterus.The patient underwent suction evacuation,and partial grape-like tissue mixed with blood clots was removed.Uterine arterial embolization was performed to control intraoperative and postoperative bleeding.Histological examination confirmed the presence of a hydatidiform mole in uterine scar.After surgery,there was still a mass with heterogeneous intensity near the isthmus of the uterus on magnetic resonance imaging.The patient then underwent chemotherapy.During the 6-mo follow-up period,the mass disappeared and the serum human chorionic gonadotropin level gradually decreased to normal level.CONCLUSION We report a case of cesarean scar molar pregnancy successfully cured by comprehensive treatment.We found that cesarean scar molar pregnancy was subject to intraoperative bleeding,and uterine arterial embolization before surgery may be helpful.展开更多
A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial ...A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial mole, but important to the treatment. We present a recent case in which STR polymorphism analysis clearly revealed a different genetic origin for the fetal and molar parts. STR polymorphisms on 15 variable number tandem repeat loci and a gender-determination locus, which were detected by polymerase chain reaction, indicating that the cord/placenta and molar tissue were parental and androgenous, respectively. During follow-up, the patient developed persistent gestational trophoblastic tumor (GTT) which was successfully treated with chemotherapy. In this case, STR polymorphism analysis exactly diagnosed a twin pregnancy consisting of a complete hydatidiform mole and a fetus.展开更多
BACKGROUND We describe the treatment strategy for a patient who was found to have a partial hydatidiform mole and coexisting fetus(PHMCF)during the second trimester.The patient was a 38-year-old Chinese woman who had ...BACKGROUND We describe the treatment strategy for a patient who was found to have a partial hydatidiform mole and coexisting fetus(PHMCF)during the second trimester.The patient was a 38-year-old Chinese woman who had become pregnant following in vitro fertilization and embryo transplantation.We wanted to determine the safest therapeutic strategy to terminate the PHMCF during the second trimester.CASE SUMMARY In this case,we present a patient who was found to have a PHMCF complicated with serious continuous vaginal bleeding and pre-eclampsia during the second trimester.After careful evaluation,the pregnancy was considered to be unsustainable and was terminated via caesarean section(CS).An infant with weak vital signs and a partially cystic placenta measuring 110 mm×95 mm×35 mm were delivered by CS.The patient was discharged after 4 d.The serum levels ofβ-human chorionic gonadotropin decreased to within a normal range 5 wk after the operation,and no evidence of persistent trophoblastic disease or lung metastases was noticed at the 6-mo follow-up.CONCLUSION CS termination of PHMCF during the second trimester may be a relatively safe therapeutic strategy.展开更多
ve To study the presence of c-Ha-ras oncogene mutations in hydatidiform mole (HM) tissues and to further explore its relationship with mole's malignancy
Summary: In situ hybridization was applied to locate and detect the expression of p57 KIP2 in hydatidiform mole (5 cases of partial hydatidiform mole and 18 cases of complete hydatidiform mole) and normal villi (23...Summary: In situ hybridization was applied to locate and detect the expression of p57 KIP2 in hydatidiform mole (5 cases of partial hydatidiform mole and 18 cases of complete hydatidiform mole) and normal villi (23 cases). The positive signals of p57 KIP2 expression were analyzed by HPIAS-1000 Image-Analysis System. p57 KIP2 was highly expressed in normal villi but showed distinct low expression in hydatidiform mole (P<0.01). Furthermore, the locus of low expression of p57 KIP2 accorded with the place where lesion of trophoblast occurred. Detection of p57 KIP2 made it possible to study the genetics of hydatidiform mole at the transcriptional level. Low expression of p57 KIP2 could be a molecular marker in hydatidiform mole and a target for therapy.展开更多
By setting up a real-time fluorescent quantitative RT-PCR assay to detect human telomerase reverse transcriptase （hTERT） mRNA in hydatidiform mole in peripheral blood mononuclear cells, to analyze the correlation be...By setting up a real-time fluorescent quantitative RT-PCR assay to detect human telomerase reverse transcriptase （hTERT） mRNA in hydatidiform mole in peripheral blood mononuclear cells, to analyze the correlation between the expression level of hTERT mRNA and the prognosis of hydatidiform mole, and to evaluate the clinic value of quantitative determination of hTERT mRNA in the diagnosis of hydatidiform mole. Methods： A real-time fluorescent quantitative RT-PCR （FQ RT-PCR） assay based on TaqMan fluorescence methodology and the Light-Cycler system was used to quantify the full range of hTERT mRNA copy numbers in 30 samples of hydatidiform mole and the neoplasia of hydatidiform mole. The normalized hTERT （NhTERT） was standardized by quantifying the number of GAPDH transcripts as internal control and expressed as 100x （hTERT/GAPDH） ratio. Based on the prognosis of the hydatidiform mole, the patients were divided into two groups： the experimental group and the control group, to compare the telomerase reverse transcriptase mRNA expression in peripheral blood mononuclear cells. Results： hTERT mRNA was both expressed in the peripheral blood mononuclear cells and pathological tissues in the mole experimental group and the control group. In the mole experimental group, the values were 6.31±0.32 and 6.24±0.44, respectively, and there was no significant difference between them （P〉0.05）. But in the control group the values were 1.21±0.65 and 1.40±0.61, respectively, and there was no significant difference between them （P〉0.05） The values in experimental group was significantly higher than those in the control group （P〈0.01）. Conclusion： Quantitative determination of hTERT mRNA by FQ RT-PCR is a rapid and sensitive method, hTERT in peripheral blood mononuclear cells may have potential use as a biomarker for the early detection of the prognosis of the hydatidiform mole.展开更多
OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for h...OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause.展开更多
Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, a...Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, although it is extremely rare in the latter. Here we describe a rare case of complete hydatidiform mole in a 56-year-old female patient who presented with genital bleeding combined with nausea and vomiting and a gravid uterus 16 cm in height. The ultrasound findings and the increase in serum β-HCG to 182566.00 mIU/ml suggested a diagnosis of complete hydatidiform mole. Given the post-menopausal state and the future risk of post-molar gestational trophoblastic neoplasia, we opted for total hysterectomy without preservation of the adnexa via a transabdominal approach, followed by antimitotic treatment with methotrexate. The uterus measured 18.45 cm × 11.18 cm with intra cavitary vesicles. Microscopic examination showed chorionic villi of variable size and shape, most of which were dilated and oedematous, associated with trophoblastic cell proliferation and haemorrhage suggestive of complete benign hydatidiform mole. Follow-up showed a consistent decrease in serum β-HCG levels and no evidence of residual disease. A suspicion of gestational trophoblastic disease should be borne in mind when evaluating a patient with peri- or post-menopausal bleeding to avoid delay in diagnosis and treatment.展开更多
Objective:To investigate the changes of the clinical features of hydatidiform mole.Methods:One hundred and thirteen cases of hydatidiform mole treated in Peking Union Medical College Hospital during 1989-2006 were rev...Objective:To investigate the changes of the clinical features of hydatidiform mole.Methods:One hundred and thirteen cases of hydatidiform mole treated in Peking Union Medical College Hospital during 1989-2006 were reviewed retrospectively and a comparison was made to historic data(1948-1975)using χ2 test.Results:The median age was 28 years(ranges from 20 to 55 years).The median gestational age was 90.2 days.Vaginal bleeding remaines the most common presenting symptom,ocurring in 94 of 113 cases(83.2%).Fifty-two of 113 cases(46%)presented with excessive uterine size.Pregnancy induced hypertension syndome(PIH),hyperemsis,hemoptysis and theca lutein cysts occurred in 4 of 113(3.5%),12 of 113(10.6%),4 of 113(3.5%)and 19 of 113 cases(16.8%)respectively.Incidence of postmolar trophoblastic neoplasia was 21%(24 of 113).Campared to historic data,the incidence of vaginal bleeding and PIH were statistically lower(P<0.005).The incidence of postmolar gastational trophoblastic neoplasia(GTN)was increased moderately without statistical significance compared to historic data.Conclusions:Because of the wide use of ultrasonography and serum hCG test,the current patients with hydatidiform mole have been diagnosed earlier in gestation and the clinical features have changed.Patterns of medical practice should be changed accordingly.展开更多
Twin pregnancy with mosaic partial hydatidiform mole （PHM） and survival of two healthy fetuses following in vitro fertilization and embryos transfer （IVF-ET） is a rare situation and is considered a challenge for m...Twin pregnancy with mosaic partial hydatidiform mole （PHM） and survival of two healthy fetuses following in vitro fertilization and embryos transfer （IVF-ET） is a rare situation and is considered a challenge for management. A 32-year-old Chinese woman conceived twin pregnancy following IVF-ET. At 22 weeks＇ gestation, an additional intrauterine echogenic mass with features of PHM were shown by successive ultrasound examinations. At 35 weeks＇ gestation, two live male infants and two placentas were delivered by caesarean section （CS）. Histologic examination of the abnormal placenta confirmed mosaic PHM. Genetic study showed the abnormal placental mosaicism （expressed in molar-69XXY and normal vili-46XY）, co-existing with a hypospadia new-born （46XY） in one amniotic sac. However, the other one was normal. Serial serum β-hCG levels showed a declining trend and serum β-human chorionic gonadotropin （hCG） were undetectable at 6 months after delivery. The case demonstrated that it is possible to prolonged gestation by PHM under close surveillance during the entire pregnancy.展开更多
Objective:To analyze clinicopathologic classification features of the cases that were diagnosed as missed abortion preoperatively but turn out to be hydatidiform mole(HM)postoperatively.Methods:A retrospective analysi...Objective:To analyze clinicopathologic classification features of the cases that were diagnosed as missed abortion preoperatively but turn out to be hydatidiform mole(HM)postoperatively.Methods:A retrospective analysis was conducted on the patients who had a missed abortion in our hospital from 2017 to 2018.Clinical and pathological characteristics of different types of HMs were observed.Diagnostic value of karyotype in HM was discussed based on the karyotype analysis of villi chromosome.Results:A total of 278(11.2%)HM patients were misdiagnosed as missed abortion.Naked-eye detection rate of HM was 26.61%,and sensitivity of transvaginal ultrasound on HM was 7.91%.One hundred and forty-seven(52.88%)HM cases could not be genotyped via pathological hematoxylin and eosin(HE)staining.70 HM patients underwent P57 immunohistochemistry,which had guiding significance to the classification.In addition,the karyotype diagnosis of the tissues from 15 cases basically matched their P57 classifications.Conclusions:P57 should be listed as a routine test in hydatidiform pathological examination at the same time of HE staining,and what’s more,P57 expression is consistent with genotyping,which should be recommended for the patients with HM if observed by naked eye.展开更多
Background:Pulmonary deportation of hydatidiform mole is an exceedingly rare entity.The underlying mechanisms and proper management strategies remain unclear based on sporadic case reports over the past six decades.Th...Background:Pulmonary deportation of hydatidiform mole is an exceedingly rare entity.The underlying mechanisms and proper management strategies remain unclear based on sporadic case reports over the past six decades.This study aimed to investigate the clinical features and rational treatment of patients with benign molar pregnancies with pulmonary deportation based on our experience.Methods:Medical records of 20 cases of hydatidiform mole with pulmonary deportation were retrospectively reviewed at Peking Union Medical College Hospital from November 2006 to May 2019.The detailed information of all patients was recorded and analyzed.Patients were divided into different groups according to their characteristics and Mann-Whitney U test was used to compare the duration to achieve a normal b-human chorionic gonadotrophin(b-hCG)level after the first evacuation among groups.Results:Initial pulmonary computed tomography scans showed suspected bilateral,left and right chest deportation of hydatidiform mole in 12,four,and four patients,respectively,with the maximum nodular diameter ranging from 0.6 to 1.2 cm.Ten patients achieved lesion resolution while the remaining ten patients achieved decreases in the size of their pulmonary lesions.The median duration to achieve a normal b-hCG level after the first evacuation was 15.5(13.0,21.9)weeks.There was no significant difference in the duration to achieve a normal b-hCG level after the first evacuation between two groups based on age(≥40 years vs.<40 years:15.8[12.2,21.5]weeks vs.15.5[12.9,23.0]weeks,Z=0.094,P=0.925),type of antecedent mole(partial mole vs.complete mole:15.2[12.5,27.4]weeks vs.15.9[12.9,21.5]weeks,Z=0.165,P=0.869),distribution of pulmonary nodules(bilateral lungs vs.unilateral lung:15.2[12.8,22.5]weeks vs.15.9[13.2,22.2]weeks,Z=0.386,P=0.700),maximum size of pulmonary nodules(>0.5 cm vs.0.5 cm:13.0[11.3,17.2]weeks vs.16.0[14.5,23.8]weeks,Z=1.815,P=0.070),and number of uterine evacuations(once vs.twice or three times:15.0[13.0,16.3]weeks vs.16.0[12.8,23.9]weeks,Z=0.832,P=0.405).The post-molar cohort was followed up for 17 to 139 months,and no gestational trophoblastic neoplasia was observed.Conclusions:No surgeries other than uterine evacuation and no chemotherapy regimens are recommended for such patients if they achieve satisfactory decreases in the level of hCG and gradual decrease or disappearance of pulmonary deportation nodules.Patients should be informed about the necessity of long-term follow-up.More collaborative international studies on this exceedingly rare condition may guide decisions regarding optimal management strategies.展开更多
BACKGROUND： Gestational trophoblastic disease （GTD） is a heterogeneous group of disorders characterized by abnormal trophoblast tissue. Molar and non-molar hydropic placental changes are the most common forms of GT...BACKGROUND： Gestational trophoblastic disease （GTD） is a heterogeneous group of disorders characterized by abnormal trophoblast tissue. Molar and non-molar hydropic placental changes are the most common forms of GTD. Differential diagnosis of GTD is sometimes problematic. Recently, p53 expression was identified as a good marker for distinguishing GTD types. ALMS： Comparison of p53 expression in partial hydatidiform mole （PHM） and hydropic abortion. METHODS： In this prospective cross-sectional study, molar and non-molar hydropic pregnancy specimens were collected. Immunohistochemical staining, based on the Labeled Streptavidin Biotin （LSAB） technique, was carried out on multiple 4 Ixm paraffin block sections prepared from formalin-fixed trophoblastic tissues. Polymer-based Envision was used to assess p53 tumor suppressor protein immunoreactivity, p53 expression was then compared between both groups. RESULTS： In the study, 40 patients were included： 20 with confirmed PHM and 20 with hydropic pregnancy, p53 protein was positive in 60% of patients with PHM and 25% of patients with hydropic pregnancy. The p53 positive rate was significantly higher in patients with PHM （p = 0.027）. Moreover, patients with PHM had a significantly high grade of staining （p 〈 0.001）. CONCLUSION： Our findings indicate that immunohistochemical analysis of p53 protein can be used to distinguish PHM and hydropic pregnancy.展开更多
目的:葡萄胎具有独特的遗传学特点,分子诊断是目前准确诊断和分型的重要方法。本研究探讨短串联重复序列(short tandem repeats,STR)基因分型在葡萄胎及异常绒毛病变诊断和分型中的应用价值及其与恶变的关系。方法:回顾性分析山西省儿...目的:葡萄胎具有独特的遗传学特点,分子诊断是目前准确诊断和分型的重要方法。本研究探讨短串联重复序列(short tandem repeats,STR)基因分型在葡萄胎及异常绒毛病变诊断和分型中的应用价值及其与恶变的关系。方法:回顾性分析山西省儿童医院/山西省妇幼保健院病理科2019年1月至2024年12月行STR基因分型检测并获得准确诊断的178例患者资料,对STR分型结果、组织学诊断结果和p57Kip2免疫组织化学染色结果进行对比分析,并对患者疾病进展情况进行总结。结果:患者中位年龄为36(24~50)岁,妊娠时间为6~12周。组织学诊断结果:178例患者中,完全性葡萄胎99例,部分性葡萄胎58例,可疑部分性葡萄胎7例,绒毛水肿、需排除葡萄胎14例。STR检测结果显示:完全性葡萄胎101例(单精纯合型84例,双精杂合型17例),部分性葡萄胎59例(单卵双精杂合型58例,四倍体1例),染色体三体4例(分别为16-三体、18-三体、21-三体、2-和15-三体),双雌单雄三倍体1例,二倍体水肿性流产13例。随访结果显示:进展为妊娠滋养细胞肿瘤13例,恶变率为7.3%(13/178),包括侵袭性葡萄胎12例和绒毛膜癌1例。其中,单精纯合型葡萄胎恶变8例,恶变率为9.5%(8/84),双精杂合型葡萄胎恶变3例,恶变率为17.7%(3/17),部分性葡萄胎恶变2例,恶变率为3.4%(2/59)。完全性葡萄胎、双精杂合型完全性葡萄胎、单精纯合型完全性葡萄胎与部分性葡萄胎相比,恶变率差异均无统计学意义(均P>0.05)。结论:STR基因分型可以对葡萄胎及异常绒毛病变进行精准诊断和分型,避免了过诊断和低诊断,可为患者的风险分层和精准治疗提供理论依据。展开更多
基金supported by the Key Research and Development Program of Shaanxi(No.S2024-YF-YB-SF-1359).
文摘Objective Current autosomal short tandem repeat(STR)assays can analyze the zygotic composition by comparing the allelic genes at each locus of complete hydatidiform moles(CHM),with a maternal genotype serving as an essential reference for comparative analysis.However,their application in pathology represents a challenge because of deficiency or contamination of maternal-origin tissues.This study aimed to develop a novel STR genotyping method for identifying CHM genotypes without a maternal component.Methods Samples with the pathologic description of molar pregnancy were collected.Routine hematoxylin–eosin(HE)staining and p57 immunohistochemistry staining were conducted in accordance with standard guidelines.A novel 26-plex system was explored to classify CHM and diploid pregnancies.The system combined 22 STRs on chromosomes 21/18/13/X,3 sex loci,and 1 quality control marker(TAF9L),enabling molecular diagnosis in the absence of maternal tissue.At last,traditional DNA typing based on villi and decidua(maternal component)of each case was used for result consistency analysis.Results CHM and nonmolar abortus could not be distinguished by the basic HE staining with no fetal evidence or other prominent features.DNA typing was successfully processed for all cases according to the novel 26-plex and traditional system.CHM(46XX)diagnosis required single A-STR/X-STR peaks and absent Y-chromosome markers,excluding chromosomal abnormalities via TAF9L analysis.When the villous tissue analysis revealed single peaks at X-STR/SRY loci,a 1:1 amelogenin ratio,and a 2:1 TAF9L peak ratio,these results overlapped with those of 46XY hydropic abortus or CHM.Notably,p57 immunohistochemical staining resolved the ambiguity.Consistency with traditional DNA genotyping confirmed system accuracy.This multiplex assay enhanced reliability in mole diagnosis,supporting clinical differentiation and genetic counseling.Conclusion This study presents a rapid and cost-effective assay for the genotypic identification of CHM without the need for a maternal component.The method combined the characteristics of STR loci distributed across different chromosomes and developed the clinic application of forensic biomarkers.
文摘<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidiform mole (CHM) and partial HM (PHM) in products of conception (POC) and amniotic fluid (AF) specimens, and 2) frequency of whole-genome uniparental disomy (wgUPD) and triploidy in POC and AF specimens received at a US national reference laboratory.</span><span "=""> </span><b><span>Methods:</span></b><span> We reviewed consecutive 2138 POC and 3230 AF specimens and identified the cases with wgUPD and triploidy which are associated with molar pregnancy.</span><span "=""> </span><b><span>Results:</span></b><span "=""><span> Of 2138 consecutive POC specimens tested, SNP-based CMA detected wgUPD in 10 (0.47%) and triploidy in 84 (3.93%). Of the 10 wgUPD cases, 9 (90%) were confirmed as CHM. Of 3230 consecutive AF specimens, the array detected wgUPD in 1 case (0.03%) and triploidy in 11 (0.34%). </span><b><span>Conclusions:</span></b><span> SNP-based microarray allows detection of wgUPD in POC and AF specimens at a US national reference laboratory. Correctly diagnosing HM and differentiating CHM from PHM </span></span><span>are</span><span> important for clinical management. The effective SNP-based CMA detection of wgUPD in CHM may enable physicians to monitor patients at risk for gestational trophoblastic disease and neoplasm.</span><span "=""> </span><span "=""><span>Conventional chromosome analysis of POC has a high </span><span>failure rate, cannot be performed on formalin-fixed paraffin embedded samples, and cannot detect wgUPD. Further</span></span><span "=""> </span><span>multi-institutional collaborative assessmen</span><span> on accuracy, cost-effectiveness, and adequate access to SNP-based CMA, may lead this testing platform to be considered as the first-tier analysis tool for POC specimens, including those showing PHM or CHM.
基金National Natural Science Foundation of China(General Program),No.81971593,No.81771824,and No.81701681Precision Medicine Key Innovation Team Project,No.YT1601+1 种基金Social Development Projects of Key R&D Program in Shanxi Province,No.201703D321016Youth Innovation Fund,No.YC1426.
文摘BACKGROUND Cesarean scar molar pregnancy is extremely rare,but the incidence has been rising due to the continuous increase in the rate of cesarean section.The presence of a hydatidiform mole in the scar left on the uterus by the procedure may lead to severe complications.We performed a literature review and found only seven reported cases of cesarean scar molar pregnancy.Accurate diagnosis and appropriate treatment are extremely important for the patients’prognosis.CASE SUMMARY A 35-year-old woman,gravida 4,para 1,complained of vaginal bleeding lasting more than 1 mo and amenorrhea lasting more than 2 mo.The patient’s serum human chorionic gonadotropin was 4287800 IU/L.Ultrasound showed a 11.5 cm×7.5 cm mass at the anterior lower wall of the uterus.The patient underwent suction evacuation,and partial grape-like tissue mixed with blood clots was removed.Uterine arterial embolization was performed to control intraoperative and postoperative bleeding.Histological examination confirmed the presence of a hydatidiform mole in uterine scar.After surgery,there was still a mass with heterogeneous intensity near the isthmus of the uterus on magnetic resonance imaging.The patient then underwent chemotherapy.During the 6-mo follow-up period,the mass disappeared and the serum human chorionic gonadotropin level gradually decreased to normal level.CONCLUSION We report a case of cesarean scar molar pregnancy successfully cured by comprehensive treatment.We found that cesarean scar molar pregnancy was subject to intraoperative bleeding,and uterine arterial embolization before surgery may be helpful.
基金Supported by Production and Rresearch Projects of Guangdong Province (2007B090400140)
文摘A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial mole, but important to the treatment. We present a recent case in which STR polymorphism analysis clearly revealed a different genetic origin for the fetal and molar parts. STR polymorphisms on 15 variable number tandem repeat loci and a gender-determination locus, which were detected by polymerase chain reaction, indicating that the cord/placenta and molar tissue were parental and androgenous, respectively. During follow-up, the patient developed persistent gestational trophoblastic tumor (GTT) which was successfully treated with chemotherapy. In this case, STR polymorphism analysis exactly diagnosed a twin pregnancy consisting of a complete hydatidiform mole and a fetus.
文摘BACKGROUND We describe the treatment strategy for a patient who was found to have a partial hydatidiform mole and coexisting fetus(PHMCF)during the second trimester.The patient was a 38-year-old Chinese woman who had become pregnant following in vitro fertilization and embryo transplantation.We wanted to determine the safest therapeutic strategy to terminate the PHMCF during the second trimester.CASE SUMMARY In this case,we present a patient who was found to have a PHMCF complicated with serious continuous vaginal bleeding and pre-eclampsia during the second trimester.After careful evaluation,the pregnancy was considered to be unsustainable and was terminated via caesarean section(CS).An infant with weak vital signs and a partially cystic placenta measuring 110 mm×95 mm×35 mm were delivered by CS.The patient was discharged after 4 d.The serum levels ofβ-human chorionic gonadotropin decreased to within a normal range 5 wk after the operation,and no evidence of persistent trophoblastic disease or lung metastases was noticed at the 6-mo follow-up.CONCLUSION CS termination of PHMCF during the second trimester may be a relatively safe therapeutic strategy.
基金This work was supported by the Bureau of Health of Guangdong Province (No. B1999139)
文摘ve To study the presence of c-Ha-ras oncogene mutations in hydatidiform mole (HM) tissues and to further explore its relationship with mole's malignancy
文摘Summary: In situ hybridization was applied to locate and detect the expression of p57 KIP2 in hydatidiform mole (5 cases of partial hydatidiform mole and 18 cases of complete hydatidiform mole) and normal villi (23 cases). The positive signals of p57 KIP2 expression were analyzed by HPIAS-1000 Image-Analysis System. p57 KIP2 was highly expressed in normal villi but showed distinct low expression in hydatidiform mole (P<0.01). Furthermore, the locus of low expression of p57 KIP2 accorded with the place where lesion of trophoblast occurred. Detection of p57 KIP2 made it possible to study the genetics of hydatidiform mole at the transcriptional level. Low expression of p57 KIP2 could be a molecular marker in hydatidiform mole and a target for therapy.
基金Supported by the Natural Science Foundation of Shaanxi Province (2005C265)
文摘By setting up a real-time fluorescent quantitative RT-PCR assay to detect human telomerase reverse transcriptase （hTERT） mRNA in hydatidiform mole in peripheral blood mononuclear cells, to analyze the correlation between the expression level of hTERT mRNA and the prognosis of hydatidiform mole, and to evaluate the clinic value of quantitative determination of hTERT mRNA in the diagnosis of hydatidiform mole. Methods： A real-time fluorescent quantitative RT-PCR （FQ RT-PCR） assay based on TaqMan fluorescence methodology and the Light-Cycler system was used to quantify the full range of hTERT mRNA copy numbers in 30 samples of hydatidiform mole and the neoplasia of hydatidiform mole. The normalized hTERT （NhTERT） was standardized by quantifying the number of GAPDH transcripts as internal control and expressed as 100x （hTERT/GAPDH） ratio. Based on the prognosis of the hydatidiform mole, the patients were divided into two groups： the experimental group and the control group, to compare the telomerase reverse transcriptase mRNA expression in peripheral blood mononuclear cells. Results： hTERT mRNA was both expressed in the peripheral blood mononuclear cells and pathological tissues in the mole experimental group and the control group. In the mole experimental group, the values were 6.31±0.32 and 6.24±0.44, respectively, and there was no significant difference between them （P〉0.05）. But in the control group the values were 1.21±0.65 and 1.40±0.61, respectively, and there was no significant difference between them （P〉0.05） The values in experimental group was significantly higher than those in the control group （P〈0.01）. Conclusion： Quantitative determination of hTERT mRNA by FQ RT-PCR is a rapid and sensitive method, hTERT in peripheral blood mononuclear cells may have potential use as a biomarker for the early detection of the prognosis of the hydatidiform mole.
基金This work was supported by a grant from the National Natural Science Foundation of China(No.30772321)
文摘OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause.
文摘Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, although it is extremely rare in the latter. Here we describe a rare case of complete hydatidiform mole in a 56-year-old female patient who presented with genital bleeding combined with nausea and vomiting and a gravid uterus 16 cm in height. The ultrasound findings and the increase in serum β-HCG to 182566.00 mIU/ml suggested a diagnosis of complete hydatidiform mole. Given the post-menopausal state and the future risk of post-molar gestational trophoblastic neoplasia, we opted for total hysterectomy without preservation of the adnexa via a transabdominal approach, followed by antimitotic treatment with methotrexate. The uterus measured 18.45 cm × 11.18 cm with intra cavitary vesicles. Microscopic examination showed chorionic villi of variable size and shape, most of which were dilated and oedematous, associated with trophoblastic cell proliferation and haemorrhage suggestive of complete benign hydatidiform mole. Follow-up showed a consistent decrease in serum β-HCG levels and no evidence of residual disease. A suspicion of gestational trophoblastic disease should be borne in mind when evaluating a patient with peri- or post-menopausal bleeding to avoid delay in diagnosis and treatment.
文摘Objective:To investigate the changes of the clinical features of hydatidiform mole.Methods:One hundred and thirteen cases of hydatidiform mole treated in Peking Union Medical College Hospital during 1989-2006 were reviewed retrospectively and a comparison was made to historic data(1948-1975)using χ2 test.Results:The median age was 28 years(ranges from 20 to 55 years).The median gestational age was 90.2 days.Vaginal bleeding remaines the most common presenting symptom,ocurring in 94 of 113 cases(83.2%).Fifty-two of 113 cases(46%)presented with excessive uterine size.Pregnancy induced hypertension syndome(PIH),hyperemsis,hemoptysis and theca lutein cysts occurred in 4 of 113(3.5%),12 of 113(10.6%),4 of 113(3.5%)and 19 of 113 cases(16.8%)respectively.Incidence of postmolar trophoblastic neoplasia was 21%(24 of 113).Campared to historic data,the incidence of vaginal bleeding and PIH were statistically lower(P<0.005).The incidence of postmolar gastational trophoblastic neoplasia(GTN)was increased moderately without statistical significance compared to historic data.Conclusions:Because of the wide use of ultrasonography and serum hCG test,the current patients with hydatidiform mole have been diagnosed earlier in gestation and the clinical features have changed.Patterns of medical practice should be changed accordingly.
基金This work was supported by grants from the National Natural Science Foundation of China （No. 81100445）, Talents Project of Beijing Health Bureau （No. 2009-2-11） and the Basic and Clinical Research Cooperation Fund of Capital Medical University （No. 11JL54）.
文摘Twin pregnancy with mosaic partial hydatidiform mole （PHM） and survival of two healthy fetuses following in vitro fertilization and embryos transfer （IVF-ET） is a rare situation and is considered a challenge for management. A 32-year-old Chinese woman conceived twin pregnancy following IVF-ET. At 22 weeks＇ gestation, an additional intrauterine echogenic mass with features of PHM were shown by successive ultrasound examinations. At 35 weeks＇ gestation, two live male infants and two placentas were delivered by caesarean section （CS）. Histologic examination of the abnormal placenta confirmed mosaic PHM. Genetic study showed the abnormal placental mosaicism （expressed in molar-69XXY and normal vili-46XY）, co-existing with a hypospadia new-born （46XY） in one amniotic sac. However, the other one was normal. Serial serum β-hCG levels showed a declining trend and serum β-human chorionic gonadotropin （hCG） were undetectable at 6 months after delivery. The case demonstrated that it is possible to prolonged gestation by PHM under close surveillance during the entire pregnancy.
文摘Objective:To analyze clinicopathologic classification features of the cases that were diagnosed as missed abortion preoperatively but turn out to be hydatidiform mole(HM)postoperatively.Methods:A retrospective analysis was conducted on the patients who had a missed abortion in our hospital from 2017 to 2018.Clinical and pathological characteristics of different types of HMs were observed.Diagnostic value of karyotype in HM was discussed based on the karyotype analysis of villi chromosome.Results:A total of 278(11.2%)HM patients were misdiagnosed as missed abortion.Naked-eye detection rate of HM was 26.61%,and sensitivity of transvaginal ultrasound on HM was 7.91%.One hundred and forty-seven(52.88%)HM cases could not be genotyped via pathological hematoxylin and eosin(HE)staining.70 HM patients underwent P57 immunohistochemistry,which had guiding significance to the classification.In addition,the karyotype diagnosis of the tissues from 15 cases basically matched their P57 classifications.Conclusions:P57 should be listed as a routine test in hydatidiform pathological examination at the same time of HE staining,and what’s more,P57 expression is consistent with genotyping,which should be recommended for the patients with HM if observed by naked eye.
基金Supported by a grant from the Chinese Academy of Medical Sciences Initiative for Innovative Medicine(No.CAMS-2017-I2M-1-002).
文摘Background:Pulmonary deportation of hydatidiform mole is an exceedingly rare entity.The underlying mechanisms and proper management strategies remain unclear based on sporadic case reports over the past six decades.This study aimed to investigate the clinical features and rational treatment of patients with benign molar pregnancies with pulmonary deportation based on our experience.Methods:Medical records of 20 cases of hydatidiform mole with pulmonary deportation were retrospectively reviewed at Peking Union Medical College Hospital from November 2006 to May 2019.The detailed information of all patients was recorded and analyzed.Patients were divided into different groups according to their characteristics and Mann-Whitney U test was used to compare the duration to achieve a normal b-human chorionic gonadotrophin(b-hCG)level after the first evacuation among groups.Results:Initial pulmonary computed tomography scans showed suspected bilateral,left and right chest deportation of hydatidiform mole in 12,four,and four patients,respectively,with the maximum nodular diameter ranging from 0.6 to 1.2 cm.Ten patients achieved lesion resolution while the remaining ten patients achieved decreases in the size of their pulmonary lesions.The median duration to achieve a normal b-hCG level after the first evacuation was 15.5(13.0,21.9)weeks.There was no significant difference in the duration to achieve a normal b-hCG level after the first evacuation between two groups based on age(≥40 years vs.<40 years:15.8[12.2,21.5]weeks vs.15.5[12.9,23.0]weeks,Z=0.094,P=0.925),type of antecedent mole(partial mole vs.complete mole:15.2[12.5,27.4]weeks vs.15.9[12.9,21.5]weeks,Z=0.165,P=0.869),distribution of pulmonary nodules(bilateral lungs vs.unilateral lung:15.2[12.8,22.5]weeks vs.15.9[13.2,22.2]weeks,Z=0.386,P=0.700),maximum size of pulmonary nodules(>0.5 cm vs.0.5 cm:13.0[11.3,17.2]weeks vs.16.0[14.5,23.8]weeks,Z=1.815,P=0.070),and number of uterine evacuations(once vs.twice or three times:15.0[13.0,16.3]weeks vs.16.0[12.8,23.9]weeks,Z=0.832,P=0.405).The post-molar cohort was followed up for 17 to 139 months,and no gestational trophoblastic neoplasia was observed.Conclusions:No surgeries other than uterine evacuation and no chemotherapy regimens are recommended for such patients if they achieve satisfactory decreases in the level of hCG and gradual decrease or disappearance of pulmonary deportation nodules.Patients should be informed about the necessity of long-term follow-up.More collaborative international studies on this exceedingly rare condition may guide decisions regarding optimal management strategies.
文摘BACKGROUND： Gestational trophoblastic disease （GTD） is a heterogeneous group of disorders characterized by abnormal trophoblast tissue. Molar and non-molar hydropic placental changes are the most common forms of GTD. Differential diagnosis of GTD is sometimes problematic. Recently, p53 expression was identified as a good marker for distinguishing GTD types. ALMS： Comparison of p53 expression in partial hydatidiform mole （PHM） and hydropic abortion. METHODS： In this prospective cross-sectional study, molar and non-molar hydropic pregnancy specimens were collected. Immunohistochemical staining, based on the Labeled Streptavidin Biotin （LSAB） technique, was carried out on multiple 4 Ixm paraffin block sections prepared from formalin-fixed trophoblastic tissues. Polymer-based Envision was used to assess p53 tumor suppressor protein immunoreactivity, p53 expression was then compared between both groups. RESULTS： In the study, 40 patients were included： 20 with confirmed PHM and 20 with hydropic pregnancy, p53 protein was positive in 60% of patients with PHM and 25% of patients with hydropic pregnancy. The p53 positive rate was significantly higher in patients with PHM （p = 0.027）. Moreover, patients with PHM had a significantly high grade of staining （p 〈 0.001）. CONCLUSION： Our findings indicate that immunohistochemical analysis of p53 protein can be used to distinguish PHM and hydropic pregnancy.
文摘目的:葡萄胎具有独特的遗传学特点,分子诊断是目前准确诊断和分型的重要方法。本研究探讨短串联重复序列(short tandem repeats,STR)基因分型在葡萄胎及异常绒毛病变诊断和分型中的应用价值及其与恶变的关系。方法:回顾性分析山西省儿童医院/山西省妇幼保健院病理科2019年1月至2024年12月行STR基因分型检测并获得准确诊断的178例患者资料,对STR分型结果、组织学诊断结果和p57Kip2免疫组织化学染色结果进行对比分析,并对患者疾病进展情况进行总结。结果:患者中位年龄为36(24~50)岁,妊娠时间为6~12周。组织学诊断结果:178例患者中,完全性葡萄胎99例,部分性葡萄胎58例,可疑部分性葡萄胎7例,绒毛水肿、需排除葡萄胎14例。STR检测结果显示:完全性葡萄胎101例(单精纯合型84例,双精杂合型17例),部分性葡萄胎59例(单卵双精杂合型58例,四倍体1例),染色体三体4例(分别为16-三体、18-三体、21-三体、2-和15-三体),双雌单雄三倍体1例,二倍体水肿性流产13例。随访结果显示:进展为妊娠滋养细胞肿瘤13例,恶变率为7.3%(13/178),包括侵袭性葡萄胎12例和绒毛膜癌1例。其中,单精纯合型葡萄胎恶变8例,恶变率为9.5%(8/84),双精杂合型葡萄胎恶变3例,恶变率为17.7%(3/17),部分性葡萄胎恶变2例,恶变率为3.4%(2/59)。完全性葡萄胎、双精杂合型完全性葡萄胎、单精纯合型完全性葡萄胎与部分性葡萄胎相比,恶变率差异均无统计学意义(均P>0.05)。结论:STR基因分型可以对葡萄胎及异常绒毛病变进行精准诊断和分型,避免了过诊断和低诊断,可为患者的风险分层和精准治疗提供理论依据。
