Blastomas,characterized by a mixture of mesenchymal,epithelial,and undifferentiated blastematous components,are rare malignant neoplasms originating from precursor blast cells.This review focuses on digestive system b...Blastomas,characterized by a mixture of mesenchymal,epithelial,and undifferentiated blastematous components,are rare malignant neoplasms originating from precursor blast cells.This review focuses on digestive system blastomas in adult patients,including gastroblastoma,hepatoblastoma,and pancreatoblastoma.Gastroblastoma is a biphasic,epitheliomesenchymal tumor,with only sixteen cases reported to date.In addition to the characteristic histology,metastasisassociated lung adenocarcinoma transcript 1-glioma-associated oncogene homolog 1 gene fusion is typical,although recently novel ewing sarcoma breakpoint region 1-c-terminal binding protein 1 and patched 1-glioma-associated oncogene homolog 2 fusions have been described.Hepatoblastoma is exceptionally rare in adults and can show a variety of histologic patterns which may cause diagnostic difficulty.Pancreatoblastoma,primarily a pediatric tumor,displays acinar differentiation and squamoid nests with other lines of differentiation also present,especially neuroendocrine.Diagnostic approaches for these blastomas include a combination of imaging modalities,histopathological examination,and molecular profiling.The treatment generally involves surgical resection,which may be supplemented by chemotherapy or radiotherapy in some cases.Prognoses vary with gastroblastoma generally showing favorable outcomes post-surgery whereas hepatoblastoma and pancreatoblastoma often have poorer outcomes,particularly in the setting of metastases.This review highlights the complexity of diagnosing and managing these rare adult blastomas as well as the need for ongoing research to better understand their pathogenesis and improve treatment strategies.展开更多
Pulmonary blastoma is an uncommon lung malignancy,usually presenting itself as a large chest mass causing pain, hemoptysis, cough and dyspnea; however, it is asymptomatic in up to 40% of patients. We present the case ...Pulmonary blastoma is an uncommon lung malignancy,usually presenting itself as a large chest mass causing pain, hemoptysis, cough and dyspnea; however, it is asymptomatic in up to 40% of patients. We present the case and suggestive images of a 37-year-old non-smoking lady with a monophasic pulmonary blastoma located in the lower lobe of the left lung who underwent a left posterolateral thoracotomy with lower lobectomy, hilar and mediastinal node dissection, followed by chemo and radiation therapy. After 36 mo, there is no disease progression and the patient is in good health, clinically stable and without significant chest pain.展开更多
Pleuropulmonary blastoma (PPB) is a very rare and very aggressive malignant tumor that affects children and adults. Though its presentation in children has been reported in literature, incidence is very low as compare...Pleuropulmonary blastoma (PPB) is a very rare and very aggressive malignant tumor that affects children and adults. Though its presentation in children has been reported in literature, incidence is very low as compared to adults. This neoplasm is characterized on histology by primitive blastema and a malignant mesenchymal stroma that often demonstrates multidirectional differentiation. Even though availability of multimodal therapy, the prognosis of patients with PPB remains poor.展开更多
The clinical data of 18 patients with PB from April 1989 to April 2013 was analyzed retrospectively,including 11 men and 7 women,aged 45 and 76 years old(mean 53 years).There were 12 eases of PB occurrlng in right lun...The clinical data of 18 patients with PB from April 1989 to April 2013 was analyzed retrospectively,including 11 men and 7 women,aged 45 and 76 years old(mean 53 years).There were 12 eases of PB occurrlng in right lung and other cases in left lung,AraBng them,3 patients had no symptoms,and 15 patients displayed symptoms of cough,chest pain,asthenia or minor hacmoptysis.Overall,11 patients had a preoperative diagnosis of lung cancer,7 patients were preoperatively diagnosed as the other disease,which included lung benign tumor(n=5)and mediastinal mass(n=2).All patients received a radical resection.Six patients received postoperative cisplalinbascd chemothcrapy,and two paticnts received postoperative irradiation with the dose of 55 Gy.Histologically.14 eases of 18 patients had biphasie pulmonary blastema and four cases had well differentiated fetal adenocarcinoma.A total of 12 patients died in a period of 6-36 months after operation,and 1 ease was lost after 2 years of follow up.The median survival time was 19 months,PB is a rare primary lung malignant embryonal neoplasm.Despite its assumed embyonal origin,the tumor has a predileetion for adults.A preoperative correct diagnosis is very difficult in spite of modern diagnostic imaging and biopsy techniques,Surgical resection is the main method for diagnosis and treatment.Postoperative chemotherapy or irradiation can help eliminate tumor remnants.Its prognosis is very poor,especially for the biphasie type.展开更多
OBJECTIVE To study the clinical and histopathological characteristics of pulmonary blastoma(PB),and to review the diagnostic criterion and treatment methods.METHODS Clinical and histopathological data from 15 cases of...OBJECTIVE To study the clinical and histopathological characteristics of pulmonary blastoma(PB),and to review the diagnostic criterion and treatment methods.METHODS Clinical and histopathological data from 15 cases of PB in this hospital,from 1990 to 2006,were retrospectively analyzed.RESULTS Surgical procedures were conducted in all 15 patients,including pulmonary lobectomy in 9,lobectomy of the 2 right pulmonary lobes in 2,excision of pulmonary segments in 1,lobectomy and bronchoplasty in 1,lobectomy and angioplasty in 1,and excision of the whole left lung in 1.Of the 15 cases,11 were misdiagnosed as lung cancer,2 were doubted to be a benign tumor before surgery,1 was suspected to be a malignant mesenchymoma,and only 1 was diagnosed as a PB.CONCLUSION Preoperative final diagnosis of PB is very difficult,since the clinical symptoms of the disease are nonspecific.To confirm the diagnosis,comprehensive consideration of the factors,such as the clinical manifestations,morphological characteristics and immunohistochemical tumor markers,should be taken.Surgery is the treatment of choice for PB,and a thorough removal is the key to a cure.PB has a high malignancy and o en recurs and metastasizes,usually with a poor prognosis.展开更多
Pulmonary blastoma （PB） is a relatively rare intrathoracic neoplasm that is composed of immature malignant epithelial and/or mesenchymal tissues whose features may resemble early embryological lung tissues . They ha...Pulmonary blastoma （PB） is a relatively rare intrathoracic neoplasm that is composed of immature malignant epithelial and/or mesenchymal tissues whose features may resemble early embryological lung tissues . They have been divided into three subgroups - classic biphasic pulmonary blastoma （BPB）, well-differentiated fetal ad enocarcinoma （WDFA） and pleuropulmonary blastoma （PPB） , among which BPB is the most common subtype and its prognosis is fairly poor, especially in case of accompanying local infiltration or distant metastasis. There have been several case reports about BPB with distant metastasis to brain, lung, kidney, even to pancrea. Here we reported a case of biphasic pulmonary blastoma with metastasis to adjacent rib.展开更多
Background:Pulmonary blastoma(PB)is a rare subtype of lung cancer.Currently,the underlying pathogenesis mechanisms of PB have not been fully illustrated,and the therapeutic approach for this entity is limited.Methods:...Background:Pulmonary blastoma(PB)is a rare subtype of lung cancer.Currently,the underlying pathogenesis mechanisms of PB have not been fully illustrated,and the therapeutic approach for this entity is limited.Methods:Whole-exome sequencing(WES),RNA sequencing,and DNA methylation profiling are applied to seven PB patients.Multi-omics data of pulmonary sarcomatoid carcinoma(PSC)and pituitary blastoma(PitB)from previous studies are invoked to illuminate the associations among PB and these malignacies.Results:We portray the genomic alteration spectrum of PB and find that DICER1 is with the highest alteration rate(86%).We uncover that DICER1 alterations,Wnt signaling pathway dysregulation and IGF2 imprinting dysregulation are the potential pathogenesis mechanisms of PB.Moreover,we reveal that the integrated molecular features of PB are distinct from PSC,and the molecular characteristics of PB are more similar to PitB than to PSC.Pancancer analysis show that the tumor mutation burden(TMB)and leukocyte fraction(LF)of PB are low,while some cases are positive for PD-L1 or have CD8-positive focal areas,implying the potential applicability of immunotherapy in selected PB patients.Conclusion:This study depicts the integrated molecular characteristics of PB and offers novel insights into the pathogenesis and therapeutic strategies of PB.展开更多
Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma(PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The fam...Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma(PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The family histories of 12 children with PPB recruited consecutively were surveyed. Blood samples from patients and their first-degree relatives were tested for DICER1 mutations. Whole-genome sequencing of blood samples and formalin-fixed and paraffin-embedded(FFPE) tumor tissue was performed in one family with twins. Twelve patients with PPB included six type II and six type III cases. Seven of the12 patients harbored DICER1 mutations, six of which were frameshift or nonsense mutations. Another case carried a germline DICER1 mutation affecting the splice site. FFPE sample had a nonsense mutation in TDG and missense mutations in DICER1.In addition, two cases with DICER1 mutations were found to have lung cysts preceding the diagnosis of PPB. Furthermore, one patient had a family history remarkable for thyroid diseases. Our results indicate that the germline mutation frequency in Chinese patients with PPB is similar to the ones reported for patients from USA, UK, and Japan. Moreover, our study strongly suggests that investigating the family history and detecting germline DICER1 mutations might be of benefit to increasing awareness and improving the accuracy of the differential diagnosis of PPB from non-malignant lung cysts.展开更多
文摘Blastomas,characterized by a mixture of mesenchymal,epithelial,and undifferentiated blastematous components,are rare malignant neoplasms originating from precursor blast cells.This review focuses on digestive system blastomas in adult patients,including gastroblastoma,hepatoblastoma,and pancreatoblastoma.Gastroblastoma is a biphasic,epitheliomesenchymal tumor,with only sixteen cases reported to date.In addition to the characteristic histology,metastasisassociated lung adenocarcinoma transcript 1-glioma-associated oncogene homolog 1 gene fusion is typical,although recently novel ewing sarcoma breakpoint region 1-c-terminal binding protein 1 and patched 1-glioma-associated oncogene homolog 2 fusions have been described.Hepatoblastoma is exceptionally rare in adults and can show a variety of histologic patterns which may cause diagnostic difficulty.Pancreatoblastoma,primarily a pediatric tumor,displays acinar differentiation and squamoid nests with other lines of differentiation also present,especially neuroendocrine.Diagnostic approaches for these blastomas include a combination of imaging modalities,histopathological examination,and molecular profiling.The treatment generally involves surgical resection,which may be supplemented by chemotherapy or radiotherapy in some cases.Prognoses vary with gastroblastoma generally showing favorable outcomes post-surgery whereas hepatoblastoma and pancreatoblastoma often have poorer outcomes,particularly in the setting of metastases.This review highlights the complexity of diagnosing and managing these rare adult blastomas as well as the need for ongoing research to better understand their pathogenesis and improve treatment strategies.
文摘Pulmonary blastoma is an uncommon lung malignancy,usually presenting itself as a large chest mass causing pain, hemoptysis, cough and dyspnea; however, it is asymptomatic in up to 40% of patients. We present the case and suggestive images of a 37-year-old non-smoking lady with a monophasic pulmonary blastoma located in the lower lobe of the left lung who underwent a left posterolateral thoracotomy with lower lobectomy, hilar and mediastinal node dissection, followed by chemo and radiation therapy. After 36 mo, there is no disease progression and the patient is in good health, clinically stable and without significant chest pain.
文摘Pleuropulmonary blastoma (PPB) is a very rare and very aggressive malignant tumor that affects children and adults. Though its presentation in children has been reported in literature, incidence is very low as compared to adults. This neoplasm is characterized on histology by primitive blastema and a malignant mesenchymal stroma that often demonstrates multidirectional differentiation. Even though availability of multimodal therapy, the prognosis of patients with PPB remains poor.
文摘The clinical data of 18 patients with PB from April 1989 to April 2013 was analyzed retrospectively,including 11 men and 7 women,aged 45 and 76 years old(mean 53 years).There were 12 eases of PB occurrlng in right lung and other cases in left lung,AraBng them,3 patients had no symptoms,and 15 patients displayed symptoms of cough,chest pain,asthenia or minor hacmoptysis.Overall,11 patients had a preoperative diagnosis of lung cancer,7 patients were preoperatively diagnosed as the other disease,which included lung benign tumor(n=5)and mediastinal mass(n=2).All patients received a radical resection.Six patients received postoperative cisplalinbascd chemothcrapy,and two paticnts received postoperative irradiation with the dose of 55 Gy.Histologically.14 eases of 18 patients had biphasie pulmonary blastema and four cases had well differentiated fetal adenocarcinoma.A total of 12 patients died in a period of 6-36 months after operation,and 1 ease was lost after 2 years of follow up.The median survival time was 19 months,PB is a rare primary lung malignant embryonal neoplasm.Despite its assumed embyonal origin,the tumor has a predileetion for adults.A preoperative correct diagnosis is very difficult in spite of modern diagnostic imaging and biopsy techniques,Surgical resection is the main method for diagnosis and treatment.Postoperative chemotherapy or irradiation can help eliminate tumor remnants.Its prognosis is very poor,especially for the biphasie type.
基金the Hebei Provincial Fund for Development of Oncology Faculty,based on High Scholarship and Creative Research Potential(No.[2005]52)
文摘OBJECTIVE To study the clinical and histopathological characteristics of pulmonary blastoma(PB),and to review the diagnostic criterion and treatment methods.METHODS Clinical and histopathological data from 15 cases of PB in this hospital,from 1990 to 2006,were retrospectively analyzed.RESULTS Surgical procedures were conducted in all 15 patients,including pulmonary lobectomy in 9,lobectomy of the 2 right pulmonary lobes in 2,excision of pulmonary segments in 1,lobectomy and bronchoplasty in 1,lobectomy and angioplasty in 1,and excision of the whole left lung in 1.Of the 15 cases,11 were misdiagnosed as lung cancer,2 were doubted to be a benign tumor before surgery,1 was suspected to be a malignant mesenchymoma,and only 1 was diagnosed as a PB.CONCLUSION Preoperative final diagnosis of PB is very difficult,since the clinical symptoms of the disease are nonspecific.To confirm the diagnosis,comprehensive consideration of the factors,such as the clinical manifestations,morphological characteristics and immunohistochemical tumor markers,should be taken.Surgery is the treatment of choice for PB,and a thorough removal is the key to a cure.PB has a high malignancy and o en recurs and metastasizes,usually with a poor prognosis.
文摘Pulmonary blastoma （PB） is a relatively rare intrathoracic neoplasm that is composed of immature malignant epithelial and/or mesenchymal tissues whose features may resemble early embryological lung tissues . They have been divided into three subgroups - classic biphasic pulmonary blastoma （BPB）, well-differentiated fetal ad enocarcinoma （WDFA） and pleuropulmonary blastoma （PPB） , among which BPB is the most common subtype and its prognosis is fairly poor, especially in case of accompanying local infiltration or distant metastasis. There have been several case reports about BPB with distant metastasis to brain, lung, kidney, even to pancrea. Here we reported a case of biphasic pulmonary blastoma with metastasis to adjacent rib.
基金supported by National Natural Sciences Foundation(grant number:82203827).
文摘Background:Pulmonary blastoma(PB)is a rare subtype of lung cancer.Currently,the underlying pathogenesis mechanisms of PB have not been fully illustrated,and the therapeutic approach for this entity is limited.Methods:Whole-exome sequencing(WES),RNA sequencing,and DNA methylation profiling are applied to seven PB patients.Multi-omics data of pulmonary sarcomatoid carcinoma(PSC)and pituitary blastoma(PitB)from previous studies are invoked to illuminate the associations among PB and these malignacies.Results:We portray the genomic alteration spectrum of PB and find that DICER1 is with the highest alteration rate(86%).We uncover that DICER1 alterations,Wnt signaling pathway dysregulation and IGF2 imprinting dysregulation are the potential pathogenesis mechanisms of PB.Moreover,we reveal that the integrated molecular features of PB are distinct from PSC,and the molecular characteristics of PB are more similar to PitB than to PSC.Pancancer analysis show that the tumor mutation burden(TMB)and leukocyte fraction(LF)of PB are low,while some cases are positive for PD-L1 or have CD8-positive focal areas,implying the potential applicability of immunotherapy in selected PB patients.Conclusion:This study depicts the integrated molecular characteristics of PB and offers novel insights into the pathogenesis and therapeutic strategies of PB.
基金supported by the Beijing Training Plan of TOP-notch Personnel (CIT&TCD201304189)
文摘Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma(PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The family histories of 12 children with PPB recruited consecutively were surveyed. Blood samples from patients and their first-degree relatives were tested for DICER1 mutations. Whole-genome sequencing of blood samples and formalin-fixed and paraffin-embedded(FFPE) tumor tissue was performed in one family with twins. Twelve patients with PPB included six type II and six type III cases. Seven of the12 patients harbored DICER1 mutations, six of which were frameshift or nonsense mutations. Another case carried a germline DICER1 mutation affecting the splice site. FFPE sample had a nonsense mutation in TDG and missense mutations in DICER1.In addition, two cases with DICER1 mutations were found to have lung cysts preceding the diagnosis of PPB. Furthermore, one patient had a family history remarkable for thyroid diseases. Our results indicate that the germline mutation frequency in Chinese patients with PPB is similar to the ones reported for patients from USA, UK, and Japan. Moreover, our study strongly suggests that investigating the family history and detecting germline DICER1 mutations might be of benefit to increasing awareness and improving the accuracy of the differential diagnosis of PPB from non-malignant lung cysts.
