AIM: To investigate the prognostic value of chromosome 18q microsatellite alterations (MA) in stage Ⅱ colon cancer. METHODS: One hundred and six patients with sporadic stage Ⅱ colon cancer were enrolled in this stud...AIM: To investigate the prognostic value of chromosome 18q microsatellite alterations (MA) in stage Ⅱ colon cancer. METHODS: One hundred and six patients with sporadic stage Ⅱ colon cancer were enrolled in this study. DNA was extracted from formalin-fixed, paraffin-embedded tumor and adjacent normal mucosal tissue samples. MA, including loss of heterozygosity (LOH) and microsatellite instability (MSI), was analyzed by polymerase chain reaction, polyacrylamide gel-electrophoresis and DNA sequencing at 5 microsatellite loci on chromosome 18q (D18S474, D18S55, D18S58, D18S61 and D18S64).RESULTS: Among the 102 patients eligible for MA information, the overall frequencies of LOH, high and low frequency MSI/microsatellite stable were 49.0%, 17.6% and 82.4%, respectively. The high frequency of 18q-LOH was signif icantly associated with the poor 5-year overall survival (OS) (P=0.008) and disease free survival (P=0.006). High levels of MSI were significantly associated with a longer 5-year OS (P=0.045) while the higher frequency of 18q-LOH at the loci of D18S474 and D18S61 was significantly associated with a poorer 5-year OS (P=0.010 and 0.005, respectively). But multivariate analysis showed that only the frequency of 18q-LOH was significantly associated with the prognosis of the disease. CONCLUSION: High frequency of 18q-LOH is an independent prognostic factor indicating poor prognosis of the patients with stage Ⅱ colon cancer.展开更多
Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performe...Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Methods: Traditional chromosome karyotype and whole-genome sequencing(WGS) was used to process karyotyping and genomic microdeletion and microduplication analysis.Results: the result of fetal amniotic fluid chromosome karyotype is 46,XY,rec(18),dup(18)(q12.3q23);his mother's chromosome karyotype is 46,XX,inv(18)(P11.3q12);and his father's chromosome karyotype is normal.Conclusions:A male newborn with partial trisomy 18q variation was detected in a fetus whose mother with abnormal pregnancy history, that was combined with traditional chromosome karyotype and WGS. The WGS technology has an important clinical value in the prevention of fetal birth defects of abnormal pregnancy history family in prenatal diagnosis.展开更多
Background and Objective:Colorectal cancer is one of the most common malignant cancers in the world.Although the clinicopathologic staging is the golden criterion for the prognosis at present,the optimum prognostic cr...Background and Objective:Colorectal cancer is one of the most common malignant cancers in the world.Although the clinicopathologic staging is the golden criterion for the prognosis at present,the optimum prognostic criteria for colorectal cancer should be a combination of the clinicopathologic staging and the molecular markers.However,there are currently no molecular markers available for the prognosis of colorectal cancer.Several tumor-suppressor genes associated with colorectal cancer have been mapped at the 18q21-23 region.In this study we detected the frequency of loss of heterozygosity(LOH)at chromosome 18q and investigated the relationship between LOH and clinicopathologic features and its prognostic value for patients with stageⅡcolon cancer.Methods:A total of 106 samples of tumor tissues and corresponding normal mucosa from patients with sporadic stage-Ⅱcolon cancer were included in this study.All the samples were formalin-fixed and paraffin-embedded.DNA was extracted from tumor tissues and LOH of D18S474,D18S55,D18S58,D18S61 and D18S64 at chromosome 18q was analyzed using polymerase chain reaction(PCR),polyacrylamide gel-electrophoresis,and DNA sequencing method.Multivariate analysis for association between LOH and prognosis in colon cancer patients was performed with Cox proportional hazards regression model.Results:The median follow-up time was 68 months.For 106 patients,5-year survival rate was 83.6%,which was associated with age and gross tumor type(P=0.011 and 0.034,respectively).Among 102 patients who were eligible for LOH information,the overall frequency of LOH is 49.0%(50/102),and that of LOH at 5 microsatellite loci of D18S474,D18S55,D18S58,D18S61,and D18S64 was 30.2%(26/86),23.4%(18/77),28.6%(20/70),35.0%(28/80),and 20.8%(15/72),respectively.The occurrence of LOH was significantly associated with tumor location and histopathologic grade(P=0.023,0.016 and 0.005,respectively).LOH was more frequent on the left-side,poorly-differentiated adenocarcinoma,and nonmucinous colon cancers.The occurrence of 18q-LOH was significantly associated with 5-year overall survival rate and disease free survival rate(P=0.008 and 0.006,respectively).The occurrence of 18q-LOH at the loci of D18S474 and D18S61 was significantly associated with 5-year overall survival rate(P=0.010 and 0.005,respectively).The multivariate analysis showed that only the occurrence of 18q-LOH was significantly associated with prognosis(P=0.021).Conclusions:There is a high occurrence of LOH at the loci of 18q.The expression of LOH is significantly associated with tumor location and histopathologic grade.The occurrence of 18q-LOH is an independent poor prognostic factor for the patients with stage-Ⅱcolon cancer.展开更多
文摘AIM: To investigate the prognostic value of chromosome 18q microsatellite alterations (MA) in stage Ⅱ colon cancer. METHODS: One hundred and six patients with sporadic stage Ⅱ colon cancer were enrolled in this study. DNA was extracted from formalin-fixed, paraffin-embedded tumor and adjacent normal mucosal tissue samples. MA, including loss of heterozygosity (LOH) and microsatellite instability (MSI), was analyzed by polymerase chain reaction, polyacrylamide gel-electrophoresis and DNA sequencing at 5 microsatellite loci on chromosome 18q (D18S474, D18S55, D18S58, D18S61 and D18S64).RESULTS: Among the 102 patients eligible for MA information, the overall frequencies of LOH, high and low frequency MSI/microsatellite stable were 49.0%, 17.6% and 82.4%, respectively. The high frequency of 18q-LOH was signif icantly associated with the poor 5-year overall survival (OS) (P=0.008) and disease free survival (P=0.006). High levels of MSI were significantly associated with a longer 5-year OS (P=0.045) while the higher frequency of 18q-LOH at the loci of D18S474 and D18S61 was significantly associated with a poorer 5-year OS (P=0.010 and 0.005, respectively). But multivariate analysis showed that only the frequency of 18q-LOH was significantly associated with the prognosis of the disease. CONCLUSION: High frequency of 18q-LOH is an independent prognostic factor indicating poor prognosis of the patients with stage Ⅱ colon cancer.
基金Major Science and Technology Program of Hainan Province(No.ZDKJ2017007)National Natural Science Foundation of China(No.81660433,81460034,81460236)+1 种基金National Special Project for International Science and Technology Cooperation(No.2014DFA30180)2018 Natural Science Foundation of Hainan Youth Fund Project(No.818QN315).
文摘Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Methods: Traditional chromosome karyotype and whole-genome sequencing(WGS) was used to process karyotyping and genomic microdeletion and microduplication analysis.Results: the result of fetal amniotic fluid chromosome karyotype is 46,XY,rec(18),dup(18)(q12.3q23);his mother's chromosome karyotype is 46,XX,inv(18)(P11.3q12);and his father's chromosome karyotype is normal.Conclusions:A male newborn with partial trisomy 18q variation was detected in a fetus whose mother with abnormal pregnancy history, that was combined with traditional chromosome karyotype and WGS. The WGS technology has an important clinical value in the prevention of fetal birth defects of abnormal pregnancy history family in prenatal diagnosis.
文摘Background and Objective:Colorectal cancer is one of the most common malignant cancers in the world.Although the clinicopathologic staging is the golden criterion for the prognosis at present,the optimum prognostic criteria for colorectal cancer should be a combination of the clinicopathologic staging and the molecular markers.However,there are currently no molecular markers available for the prognosis of colorectal cancer.Several tumor-suppressor genes associated with colorectal cancer have been mapped at the 18q21-23 region.In this study we detected the frequency of loss of heterozygosity(LOH)at chromosome 18q and investigated the relationship between LOH and clinicopathologic features and its prognostic value for patients with stageⅡcolon cancer.Methods:A total of 106 samples of tumor tissues and corresponding normal mucosa from patients with sporadic stage-Ⅱcolon cancer were included in this study.All the samples were formalin-fixed and paraffin-embedded.DNA was extracted from tumor tissues and LOH of D18S474,D18S55,D18S58,D18S61 and D18S64 at chromosome 18q was analyzed using polymerase chain reaction(PCR),polyacrylamide gel-electrophoresis,and DNA sequencing method.Multivariate analysis for association between LOH and prognosis in colon cancer patients was performed with Cox proportional hazards regression model.Results:The median follow-up time was 68 months.For 106 patients,5-year survival rate was 83.6%,which was associated with age and gross tumor type(P=0.011 and 0.034,respectively).Among 102 patients who were eligible for LOH information,the overall frequency of LOH is 49.0%(50/102),and that of LOH at 5 microsatellite loci of D18S474,D18S55,D18S58,D18S61,and D18S64 was 30.2%(26/86),23.4%(18/77),28.6%(20/70),35.0%(28/80),and 20.8%(15/72),respectively.The occurrence of LOH was significantly associated with tumor location and histopathologic grade(P=0.023,0.016 and 0.005,respectively).LOH was more frequent on the left-side,poorly-differentiated adenocarcinoma,and nonmucinous colon cancers.The occurrence of 18q-LOH was significantly associated with 5-year overall survival rate and disease free survival rate(P=0.008 and 0.006,respectively).The occurrence of 18q-LOH at the loci of D18S474 and D18S61 was significantly associated with 5-year overall survival rate(P=0.010 and 0.005,respectively).The multivariate analysis showed that only the occurrence of 18q-LOH was significantly associated with prognosis(P=0.021).Conclusions:There is a high occurrence of LOH at the loci of 18q.The expression of LOH is significantly associated with tumor location and histopathologic grade.The occurrence of 18q-LOH is an independent poor prognostic factor for the patients with stage-Ⅱcolon cancer.
