BACKGROUND Malignant small round cell tumor(MSRCT)metastasis to the common bile duct associated with recurrent biliary hemorrhage is extremely rare.Thus far,there have been no reports of metastatic small round cell tu...BACKGROUND Malignant small round cell tumor(MSRCT)metastasis to the common bile duct associated with recurrent biliary hemorrhage is extremely rare.Thus far,there have been no reports of metastatic small round cell tumors of the common bile duct.CASE SUMMARY Herein,we report the case of a 77-year-old female patient with an MSRCT in the common bile duct.The patient was admitted to hospital due to gastrointestinal hemorrhage and abdominal pain.We found a neoplasm in the common bile duct with active bleeding through a spyglass.We performed biopsy through the spyglass and placed a metal stent to stop bleeding.The pathological result suggested that it was an MSRCT metastasized from the back to the common bile duct.Later,we found using fluorescence in situ hybridization that the SS18 gene break test was negative,ruling out the diagnosis of synovial sarcoma.CONCLUSION MSRCT is a group of tumors with similar cell morphology and diffuse histological structure.Complete tumor resection results in improved survival in patients with MSRCT.Roux-en-Y cholangiojejunostomy was performed.After excision of the common bile duct tumor,the patient felt that the abdominal pain improved and hemorrhage disappeared.The patient underwent routine fecal examination one month after surgery,indicating a negative fecal occult blood test.On May 22,2023,the patient was reexamined by abdominal computed tomography,and no abdominal space occupying lesions or abdominal lymphadenopathy was found.展开更多
Desmoplastic small round cell tumor （DSRCT） is a rare, highly aggressive malignancy with distinctive histological features： a nesting pattern of cellular growth within dense desmoplastic stroma, occurring in young ...Desmoplastic small round cell tumor （DSRCT） is a rare, highly aggressive malignancy with distinctive histological features： a nesting pattern of cellular growth within dense desmoplastic stroma, occurring in young population with male predominance. The mean survival period is only about 1.5-2.5 years. The tumor has co-expressed epithelial, muscle, and neural markers in immunohistochemical studies. This work reports a 27-year-old man presenting with hematemesis and chronic constipation. Serial studies including endoscopy, upper gastrointestinal series, abdominal computed tomography and barium enema study showed disseminated involvement of visceral organs. The patient underwent aggressive surgery and received postoperative adjuvant chemotherapy consisting of 5-fluorouracil, cyclophosphamide, etoposide, doxorubicin, and cisplatin. He survived without any disease for 20 mo after the surgery. No standard treatment protocol has been established. Aggressive surgery combined with postoperative multi-agent adjuvant chemotherapy is justified not only to relieve symptoms but also to try to improve the outcome in this advanced DSRCT young patient.展开更多
To investigate the clinical and computed tomography(CT)features of desmoplastic small round cell tumor(DSRCT),we retrospectively analyzed the clinical presentations,treatment and outcome,as well as CT manifestations o...To investigate the clinical and computed tomography(CT)features of desmoplastic small round cell tumor(DSRCT),we retrospectively analyzed the clinical presentations,treatment and outcome,as well as CT manifestations of four cases of DSRCT confirmed by surgery and pathology.The CT manifestations of DSRCT were as follows:(1)multiple soft-tissue masses or diffuse peritoneal thickening in the abdomen and pelvis,with the dominant mass usually located in the pelvic cavity;(2)masses without an apparent organbased primary site;(3)mild to moderate homogeneous or heterogeneous enhancement in solid area on enhanced CT;and(4)secondary manifestations,such as ascites,hepatic metastases,lymphadenopathy,hydronephrosis and hydroureter.The prognosis and overall survival rates were generally poor.Commonly used treatment strategies including aggressive tumor resection,polychemotherapy,and radiotherapy,showed various therapeutic effects.CT of DSRCT shows characteristic features that are helpful in diagnosis.Early discovery and complete resection,coupled with postoperative adjuvant chemotherapy,are important for prognosis of DSRCT.Whole abdominopelvic rather than locoregional radiotherapy is more effective for unresectable DSRCT.展开更多
A desmoplastic small round cell tumor (DSRCT) is a rare, aggressive mesenchymal neoplasm. Although a DSRCT can develop at various sites, the intraabdominal site is the most common location. These tumors are found most...A desmoplastic small round cell tumor (DSRCT) is a rare, aggressive mesenchymal neoplasm. Although a DSRCT can develop at various sites, the intraabdominal site is the most common location. These tumors are found most commonly among young adolescents and the prognosis is extremely poor. Multimodal treatment with surgery, chemotherapy and radiotherapy is very important for these rare cases, and this treatment can improve patient survival. In this report, we describe the case of an 8-year-old boy diagnosed with DSRCT located in the retroperitoneal space. The patient has undergone surgical resection and adjuvant chemoradiation therapy, and is currently alive without disease recurrence.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
Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive variety of sarcoma arising typically from abdominal or pelvic peritoneum. Diagnosis and treatment approaches of this entity are complex and r...Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive variety of sarcoma arising typically from abdominal or pelvic peritoneum. Diagnosis and treatment approaches of this entity are complex and require a skilled, experienced, multidisciplinary team. Authors report their experience with a case of an intraabdominal DSRCT arising in a 37-year-old young man in order to discuss the clinico-pathological and radiological behavior of this tumor and underline diagnostic and therapeutic difficulties.展开更多
The tumor desmoplastic small round cell in women is rare. Ovarian its location is exceptional. We report a patient of 20 years, the originalNorth Africawho consulted for an increase in abdominal volume with impaired g...The tumor desmoplastic small round cell in women is rare. Ovarian its location is exceptional. We report a patient of 20 years, the originalNorth Africawho consulted for an increase in abdominal volume with impaired general condition. Pelvic ultrasonography and computed tomography were in favor of multiple peritoneal masses with ascites. After surgical exploration, the histological and immunohistochemical data for diagnosis small round cell desmoplastic tumor of ovarian the patient was a candidate for poly chemotherapy but she was died a month later. Diagnosis relies on histological and immunohistochemical data. The demonstration of a nonrandom translocation t (11;22) (p13;q12) is specific for the disease. The management is multidisciplinary and combining surgery, a poly aggressive chemotherapy and radiotherapy. The prognosis remains poor.展开更多
Desmoplastic small round cell tumor （DSRCT） is a clinically and morphologically well-defined neoplasm. This highly aggressive malignant small cell neoplasm tends to affect adolescents and young adults and occurs pre...Desmoplastic small round cell tumor （DSRCT） is a clinically and morphologically well-defined neoplasm. This highly aggressive malignant small cell neoplasm tends to affect adolescents and young adults and occurs predominantly in the abdomen, pelvis, and omentum. DSRCT in the lung is extremely rare. Here we present a case of pulmonary DSRCT with description of its histopathological characteristics and discuss its differential diagnosis.展开更多
Background:Desmoplastic small round cell tumor(DSRCT)is a rare,aggressive,and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1(EWSR1)-W...Background:Desmoplastic small round cell tumor(DSRCT)is a rare,aggressive,and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1(EWSR1)-Wilm’s tumor suppressor(WT1)translocation.We used whole-exome sequencing to interrogate six consecutive pretreated DSRCTs whose gene expression was previously investigated.Methods:DNA libraries were prepared from formalin-fixed,paraffin-embedded archival tissue specimens following the Agilent SureSelectXT2 target enrichment protocol and sequenced on Illumina NextSeq 500.Raw sequence data were aligned to the reference genome with Burrows-Wheeler Aligner algorithm.Somatic mutations and copy number alterations(CNAs)were identified using MuTect2 and EXCAVATOR2,respectively.Biological functions associated with altered genes were investigated through Ingenuity Pathway Analysis(IPA)software.Results:A total of 137 unique somatic mutations were identified:133 mutated genes were case-specific,and 2 were mutated in two cases but in different positions.Among the 135 mutated genes,27%were related to two biological categories:DNA damage-response(DDR)network that was also identified through IPA and mesenchymal-epithelial reverse transition(MErT)/epithelial-mesenchymal transition(EMT)already demonstrated to be relevant in DSRCT.The mutated genes in the DDR network were involved in various steps of transcription and particularly affected pre-mRNA.Half of these genes encoded RNA-binding proteins or DNA/RNA-binding proteins,which were recently rec-ognized as a new class of DDR players.CNAs in genes/gene families,involved in MErT/EMT and DDR,were recurrent across patients and mostly segregated in the MErT/EMT category.In addition,recurrent gains of regions in chromosome 1 involving many MErT/EMT gene families and loss of one arm or the entire chromosome 6 affecting relevant immune-regulatory genes were recorded.Conclusions:The emerging picture is an extreme inter-tumor heterogeneity,characterized by the concurrent deregulation of the DDR and MErT/EMT dynamic and plastic programs that could favour genomic instability and explain the refractory DSRCT profile.展开更多
促结缔组织增生性小圆细胞肿瘤(desmoplastic small round cell tumor,DSRCT)是罕见的软组织来源的恶性肿瘤,1991年被正式命名,发病率低,目前尚无标准治疗方案,总体预后较差。DSRCT缺乏特异性临床表现,故确诊困难,大多数患者确诊时已发...促结缔组织增生性小圆细胞肿瘤(desmoplastic small round cell tumor,DSRCT)是罕见的软组织来源的恶性肿瘤,1991年被正式命名,发病率低,目前尚无标准治疗方案,总体预后较差。DSRCT缺乏特异性临床表现,故确诊困难,大多数患者确诊时已发生转移。DSRCT主要好发于青年男性,常累及腹腔和盆腔。精索区DSRCT极为罕见,现报道1例误诊为腹股沟斜疝的精索DSRCT患者的临床病理资料,以期为临床诊治提供参考。展开更多
文摘BACKGROUND Malignant small round cell tumor(MSRCT)metastasis to the common bile duct associated with recurrent biliary hemorrhage is extremely rare.Thus far,there have been no reports of metastatic small round cell tumors of the common bile duct.CASE SUMMARY Herein,we report the case of a 77-year-old female patient with an MSRCT in the common bile duct.The patient was admitted to hospital due to gastrointestinal hemorrhage and abdominal pain.We found a neoplasm in the common bile duct with active bleeding through a spyglass.We performed biopsy through the spyglass and placed a metal stent to stop bleeding.The pathological result suggested that it was an MSRCT metastasized from the back to the common bile duct.Later,we found using fluorescence in situ hybridization that the SS18 gene break test was negative,ruling out the diagnosis of synovial sarcoma.CONCLUSION MSRCT is a group of tumors with similar cell morphology and diffuse histological structure.Complete tumor resection results in improved survival in patients with MSRCT.Roux-en-Y cholangiojejunostomy was performed.After excision of the common bile duct tumor,the patient felt that the abdominal pain improved and hemorrhage disappeared.The patient underwent routine fecal examination one month after surgery,indicating a negative fecal occult blood test.On May 22,2023,the patient was reexamined by abdominal computed tomography,and no abdominal space occupying lesions or abdominal lymphadenopathy was found.
文摘Desmoplastic small round cell tumor （DSRCT） is a rare, highly aggressive malignancy with distinctive histological features： a nesting pattern of cellular growth within dense desmoplastic stroma, occurring in young population with male predominance. The mean survival period is only about 1.5-2.5 years. The tumor has co-expressed epithelial, muscle, and neural markers in immunohistochemical studies. This work reports a 27-year-old man presenting with hematemesis and chronic constipation. Serial studies including endoscopy, upper gastrointestinal series, abdominal computed tomography and barium enema study showed disseminated involvement of visceral organs. The patient underwent aggressive surgery and received postoperative adjuvant chemotherapy consisting of 5-fluorouracil, cyclophosphamide, etoposide, doxorubicin, and cisplatin. He survived without any disease for 20 mo after the surgery. No standard treatment protocol has been established. Aggressive surgery combined with postoperative multi-agent adjuvant chemotherapy is justified not only to relieve symptoms but also to try to improve the outcome in this advanced DSRCT young patient.
文摘To investigate the clinical and computed tomography(CT)features of desmoplastic small round cell tumor(DSRCT),we retrospectively analyzed the clinical presentations,treatment and outcome,as well as CT manifestations of four cases of DSRCT confirmed by surgery and pathology.The CT manifestations of DSRCT were as follows:(1)multiple soft-tissue masses or diffuse peritoneal thickening in the abdomen and pelvis,with the dominant mass usually located in the pelvic cavity;(2)masses without an apparent organbased primary site;(3)mild to moderate homogeneous or heterogeneous enhancement in solid area on enhanced CT;and(4)secondary manifestations,such as ascites,hepatic metastases,lymphadenopathy,hydronephrosis and hydroureter.The prognosis and overall survival rates were generally poor.Commonly used treatment strategies including aggressive tumor resection,polychemotherapy,and radiotherapy,showed various therapeutic effects.CT of DSRCT shows characteristic features that are helpful in diagnosis.Early discovery and complete resection,coupled with postoperative adjuvant chemotherapy,are important for prognosis of DSRCT.Whole abdominopelvic rather than locoregional radiotherapy is more effective for unresectable DSRCT.
文摘A desmoplastic small round cell tumor (DSRCT) is a rare, aggressive mesenchymal neoplasm. Although a DSRCT can develop at various sites, the intraabdominal site is the most common location. These tumors are found most commonly among young adolescents and the prognosis is extremely poor. Multimodal treatment with surgery, chemotherapy and radiotherapy is very important for these rare cases, and this treatment can improve patient survival. In this report, we describe the case of an 8-year-old boy diagnosed with DSRCT located in the retroperitoneal space. The patient has undergone surgical resection and adjuvant chemoradiation therapy, and is currently alive without disease recurrence.
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Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive variety of sarcoma arising typically from abdominal or pelvic peritoneum. Diagnosis and treatment approaches of this entity are complex and require a skilled, experienced, multidisciplinary team. Authors report their experience with a case of an intraabdominal DSRCT arising in a 37-year-old young man in order to discuss the clinico-pathological and radiological behavior of this tumor and underline diagnostic and therapeutic difficulties.
文摘The tumor desmoplastic small round cell in women is rare. Ovarian its location is exceptional. We report a patient of 20 years, the originalNorth Africawho consulted for an increase in abdominal volume with impaired general condition. Pelvic ultrasonography and computed tomography were in favor of multiple peritoneal masses with ascites. After surgical exploration, the histological and immunohistochemical data for diagnosis small round cell desmoplastic tumor of ovarian the patient was a candidate for poly chemotherapy but she was died a month later. Diagnosis relies on histological and immunohistochemical data. The demonstration of a nonrandom translocation t (11;22) (p13;q12) is specific for the disease. The management is multidisciplinary and combining surgery, a poly aggressive chemotherapy and radiotherapy. The prognosis remains poor.
文摘Desmoplastic small round cell tumor （DSRCT） is a clinically and morphologically well-defined neoplasm. This highly aggressive malignant small cell neoplasm tends to affect adolescents and young adults and occurs predominantly in the abdomen, pelvis, and omentum. DSRCT in the lung is extremely rare. Here we present a case of pulmonary DSRCT with description of its histopathological characteristics and discuss its differential diagnosis.
基金supported by Associazione Italiana Ricerca Cancro(IG201314102 to Silvana Pilotti).
文摘Background:Desmoplastic small round cell tumor(DSRCT)is a rare,aggressive,and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1(EWSR1)-Wilm’s tumor suppressor(WT1)translocation.We used whole-exome sequencing to interrogate six consecutive pretreated DSRCTs whose gene expression was previously investigated.Methods:DNA libraries were prepared from formalin-fixed,paraffin-embedded archival tissue specimens following the Agilent SureSelectXT2 target enrichment protocol and sequenced on Illumina NextSeq 500.Raw sequence data were aligned to the reference genome with Burrows-Wheeler Aligner algorithm.Somatic mutations and copy number alterations(CNAs)were identified using MuTect2 and EXCAVATOR2,respectively.Biological functions associated with altered genes were investigated through Ingenuity Pathway Analysis(IPA)software.Results:A total of 137 unique somatic mutations were identified:133 mutated genes were case-specific,and 2 were mutated in two cases but in different positions.Among the 135 mutated genes,27%were related to two biological categories:DNA damage-response(DDR)network that was also identified through IPA and mesenchymal-epithelial reverse transition(MErT)/epithelial-mesenchymal transition(EMT)already demonstrated to be relevant in DSRCT.The mutated genes in the DDR network were involved in various steps of transcription and particularly affected pre-mRNA.Half of these genes encoded RNA-binding proteins or DNA/RNA-binding proteins,which were recently rec-ognized as a new class of DDR players.CNAs in genes/gene families,involved in MErT/EMT and DDR,were recurrent across patients and mostly segregated in the MErT/EMT category.In addition,recurrent gains of regions in chromosome 1 involving many MErT/EMT gene families and loss of one arm or the entire chromosome 6 affecting relevant immune-regulatory genes were recorded.Conclusions:The emerging picture is an extreme inter-tumor heterogeneity,characterized by the concurrent deregulation of the DDR and MErT/EMT dynamic and plastic programs that could favour genomic instability and explain the refractory DSRCT profile.
文摘促结缔组织增生性小圆细胞肿瘤(desmoplastic small round cell tumor,DSRCT)是罕见的软组织来源的恶性肿瘤,1991年被正式命名,发病率低,目前尚无标准治疗方案,总体预后较差。DSRCT缺乏特异性临床表现,故确诊困难,大多数患者确诊时已发生转移。DSRCT主要好发于青年男性,常累及腹腔和盆腔。精索区DSRCT极为罕见,现报道1例误诊为腹股沟斜疝的精索DSRCT患者的临床病理资料,以期为临床诊治提供参考。
