Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The ima...Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.展开更多
Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span...Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">rhabdoid tumors are highly malignant, rare </span><span style="font-family:Verdana;">and</span><span style="font-family:Verdana;"> aggressive. The prognosis is very poor, with a pejorative and rapidly lethal evolution. The objective of this study was to show </span><span style="font-family:Verdana;">diagnostic</span><span style="font-family:Verdana;"> and therapeutic approach through the report of four observations of </span><span style="font-family:Verdana;">rhabdoid</span><span style="font-family:Verdana;"> tumor of the kidney in children, treated in the oncology unit at the pediatric department CHU Hassan II Fez Morocco, collected </span><span style="font-family:Verdana;">over a period of</span><span style="font-family:Verdana;"> 10 years. The ages of the patients varied from 8 months and 5 and a half, with 3 girls and a boy. All </span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">children</span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">have </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">abdominal distention with the discovery of a mass on clinical examination. </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">patients were treated </span><span style="font-family:Verdana;">as</span><span style="font-family:Verdana;"> nephroblastoma by neoadjuvant chemotherapy followed by enlarged total nephrectomy. The pathological study confirmed the diagnosis of a teratoid</span></span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">rhabdoid tumor. Adjuvant chemotherapy was given in all four children combined with radiotherapy in three cases. The evolution was fatal in three children. Malignant rhabdoid tumors are a particular pathological entity requiring a well codified therapeutic protocol to improve survival which does not exceed 15% to 20%.展开更多
Atypical teratoid/rhabdoid tumor (AT/RT) is an embryonic central nervous system tumor. It has a low incidence with a high degree of malignancy and a poor prognosis. Five years ago, we successfully treated a child with...Atypical teratoid/rhabdoid tumor (AT/RT) is an embryonic central nervous system tumor. It has a low incidence with a high degree of malignancy and a poor prognosis. Five years ago, we successfully treated a child with AT/RT. Treatment comprised total tumor resection, 6 MV X 3D conformal radiotherapy (DT: 36Gy/18FX) and six courses of chemotherapy, including teniposide 25 mg (qd × 5d), ACNU 25 mg (qd × 1d), vincristine 1 mg (qd × 1d). There was no tumor recurrence after 5 years of follow-up. We adjusted the previous AT/RT regimen to make it more suitable for the individual treatment of this patient, and now the patient has achieved a cure. So we think this regimen is effective and it is worthy of recommendation.展开更多
Rhabdoid tumor of kidney (RTK) is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and w...Rhabdoid tumor of kidney (RTK) is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and was defined as an independent disease in 1981. In the reported literatures, there were less in adolescents and extremely rare in adults.展开更多
Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy;these treatm...Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy;these treatments have poor prognoses and challenging side effects. The pivotal genetic event in AT/RT pathogenesis comprises the inactivation ofSMARCB1 orSMARCA4. Recent epigenetic studies have demonstrated mutual and subtype-specific epigenetic derangements that drive tumorigenesis;the exploitation of these potential targets might improve the dismal treatment outcomes of AT/RTs. This review aims to summarize the literature concerning targeted molecular therapies for pediatric AT/RTs.展开更多
Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epitheli...Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.展开更多
BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition o...BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition of this group of tumors as yet, and our overall understanding of its morphological features, therapeutic regimen and prognosis is limited.CASE SUMMARY A 34-year-old male patient was referred to our hospital to address a 2-mo history of hematuria and progressive dysuria. Pelvic computed tomography scan revealed a 6.0 cm × 5.2 cm × 7.2 cm mass in the prostate, with bladder invasion.The patient underwent transurethral prostatectomy as upfront therapy. He refused further treatment and died of uncontrollable tumor growth 3 mo after surgery. Pathology analysis revealed the stroma to be pleomorphic, with a huge number of atypical spindle cells. Rhabdomyoblastic cells, with abundant eosinophilic cytoplasm, were detected. The spindle cells were positive for vimentin, INI1 and β-catenin, and the rhabdomyoblastic cells were positive for MyoD1, myogenin and INI1. The spindle cells and epithelial cells were sporadically positive for P53.CONCLUSION The prostatic stromal sarcoma tumor was immunoreactive for β-catenin,suggesting a role for the Wnt/β-catenin pathway in this tumor type.展开更多
目的:探讨泛素结合酶2C(ubiquitin-conjugating enzyme 2 C,UBE2C)对肾恶性横纹肌样瘤(malignant rhabdoid tumor of the kidney,MRTK)的影响及作用机制。方法:采用蛋白免疫印迹(Western blot,WB)以及免疫荧光法在收集的MRTK临床标本以...目的:探讨泛素结合酶2C(ubiquitin-conjugating enzyme 2 C,UBE2C)对肾恶性横纹肌样瘤(malignant rhabdoid tumor of the kidney,MRTK)的影响及作用机制。方法:采用蛋白免疫印迹(Western blot,WB)以及免疫荧光法在收集的MRTK临床标本以及细胞系G401细胞中验证UBE2C的表达情况。从TARGET数据库下载MRTK的基因表达数据进行验证,Kaplan-Meier法(KM法)评估UBE2C与预后的关系。采用小干扰RNA(small interfering RNA,siRNA)抑制UBE2C在G401细胞中的表达。通过CCK-8检测转染后G401细胞增殖情况,流式细胞术检测细胞凋亡能力,划痕实验和Transwell实验分别检测细胞迁移和侵袭能力的改变。采用基因集富集分析(Gene Set Enrichment Analysis,GSEA)探索UBE2C调控的相关通路,并通过WB验证通路蛋白的表达。结果:在MRTK临床标本中,UBE2C表达量是癌旁对照组的(3.189±1.900)倍(P=0.033)。G401细胞系中UBE2C表达量是HEK293细胞的(2.092±0.231)倍(P=0.000),KM生存分析显示,高表达UBE2C的患者预后更差(P=0.019),并且UBE2C在4期患者(680.9±167.7)中高于早期患者(560.5±166.9),差异有统计学意义(P=0.021)。采用siRNA成功将UBE2C的表达敲低至(0.446±0.058)倍(P=0.000),并且发现敲低UBE2C抑制了G401细胞增殖、侵袭、迁移以及促进了细胞凋亡(P=0.000)。GSEA富集分析发现UBE2C与Wnt/β-catenin信号通路相关(P=0.000),敲低UBE2C可以抑制Wnt/β-catenin信号通路及上皮间质转换(epithelial-mesenchymal transition,EMT)(P=0.000)。结论:UBE2C在MRTK中高表达与不良预后相关,参与调控Wnt/β-catenin信号通路,抑制UBE2C可以抑制MRTK的增殖、迁移、侵袭,EMT,促进其凋亡。展开更多
文摘Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.
文摘Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">rhabdoid tumors are highly malignant, rare </span><span style="font-family:Verdana;">and</span><span style="font-family:Verdana;"> aggressive. The prognosis is very poor, with a pejorative and rapidly lethal evolution. The objective of this study was to show </span><span style="font-family:Verdana;">diagnostic</span><span style="font-family:Verdana;"> and therapeutic approach through the report of four observations of </span><span style="font-family:Verdana;">rhabdoid</span><span style="font-family:Verdana;"> tumor of the kidney in children, treated in the oncology unit at the pediatric department CHU Hassan II Fez Morocco, collected </span><span style="font-family:Verdana;">over a period of</span><span style="font-family:Verdana;"> 10 years. The ages of the patients varied from 8 months and 5 and a half, with 3 girls and a boy. All </span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">children</span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">have </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">abdominal distention with the discovery of a mass on clinical examination. </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">patients were treated </span><span style="font-family:Verdana;">as</span><span style="font-family:Verdana;"> nephroblastoma by neoadjuvant chemotherapy followed by enlarged total nephrectomy. The pathological study confirmed the diagnosis of a teratoid</span></span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">rhabdoid tumor. Adjuvant chemotherapy was given in all four children combined with radiotherapy in three cases. The evolution was fatal in three children. Malignant rhabdoid tumors are a particular pathological entity requiring a well codified therapeutic protocol to improve survival which does not exceed 15% to 20%.
文摘Atypical teratoid/rhabdoid tumor (AT/RT) is an embryonic central nervous system tumor. It has a low incidence with a high degree of malignancy and a poor prognosis. Five years ago, we successfully treated a child with AT/RT. Treatment comprised total tumor resection, 6 MV X 3D conformal radiotherapy (DT: 36Gy/18FX) and six courses of chemotherapy, including teniposide 25 mg (qd × 5d), ACNU 25 mg (qd × 1d), vincristine 1 mg (qd × 1d). There was no tumor recurrence after 5 years of follow-up. We adjusted the previous AT/RT regimen to make it more suitable for the individual treatment of this patient, and now the patient has achieved a cure. So we think this regimen is effective and it is worthy of recommendation.
文摘Rhabdoid tumor of kidney (RTK) is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and was defined as an independent disease in 1981. In the reported literatures, there were less in adolescents and extremely rare in adults.
文摘Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy;these treatments have poor prognoses and challenging side effects. The pivotal genetic event in AT/RT pathogenesis comprises the inactivation ofSMARCB1 orSMARCA4. Recent epigenetic studies have demonstrated mutual and subtype-specific epigenetic derangements that drive tumorigenesis;the exploitation of these potential targets might improve the dismal treatment outcomes of AT/RTs. This review aims to summarize the literature concerning targeted molecular therapies for pediatric AT/RTs.
基金Supported by Department of Pathology,the University of Texas Health Science Center at Houston,United States
文摘Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.
文摘BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition of this group of tumors as yet, and our overall understanding of its morphological features, therapeutic regimen and prognosis is limited.CASE SUMMARY A 34-year-old male patient was referred to our hospital to address a 2-mo history of hematuria and progressive dysuria. Pelvic computed tomography scan revealed a 6.0 cm × 5.2 cm × 7.2 cm mass in the prostate, with bladder invasion.The patient underwent transurethral prostatectomy as upfront therapy. He refused further treatment and died of uncontrollable tumor growth 3 mo after surgery. Pathology analysis revealed the stroma to be pleomorphic, with a huge number of atypical spindle cells. Rhabdomyoblastic cells, with abundant eosinophilic cytoplasm, were detected. The spindle cells were positive for vimentin, INI1 and β-catenin, and the rhabdomyoblastic cells were positive for MyoD1, myogenin and INI1. The spindle cells and epithelial cells were sporadically positive for P53.CONCLUSION The prostatic stromal sarcoma tumor was immunoreactive for β-catenin,suggesting a role for the Wnt/β-catenin pathway in this tumor type.