Of note, rarely one may see small round cell tumors with the polyphenotypia and desmoplasia of desmoplastic small round cell tumor but containing an ewsfli1 fusion. In an undifferentiated tumor, showing a small round blue cell morphology, using the mnemonic mr sleep helps to highlight tumors to consider. The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells with few distinguishing histologic features. Small round blue cell sarcoma of bone mimicking atypical ewings sarcoma. We report the case of a small blue round cell tumor with an ews gene rearrangement detected by fluorescent in situ hybridization fish analysis that mimicked ewing sarcoma, but. Small blue round cell tumor an overview sciencedirect.
Biopsies are usually small and limited, resulting in considerable. Over time, numerous approaches have been proposed for the treatment of dsrct, and the best results have been obtained with the. The group of small round blue cell tumors of childhood represents a descriptive category of malignant pediatric neoplasms characterized by the presence of morphologically poorly differentiated cells containing large hyperchromatic nuclei and scant cytoplasm. Primary desmoplastic small round cell tumor of the. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive mesenchymal tumor that was first described as a separate identity in 1989 by gerald and rosai. Small round cell tumor diagnostic approach dr niharika singh md pathology ii yearresident gandhi medical college. A desmoplastic small round cell tumor dsrct is an extremely rare and highly aggressive cancer that affects adolescents and young adults. A 14yearold girl presented with intermittent epigastric pain. Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and. Small blue round cell tumour definition of small blue. The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells. Desmoplastic small round cell tumour dsrct is a rare sarcoma typically affecting young males and usually widely metastatic at presentation.
Desmoplastic small round cell tumor in the abdomen and pelvis. A practical approach to the differential diagnosis of small round. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive disease, that can be described as a member of the family of small round blue cell tumors. This category classically includes certain subtypes of sarcomas, carcinomas, lymphomas, melanoma, and neuroblastoma box 8. The desmoplastic small round cell tumor dsrct is an extremely rare tumor that mainly affects adolescents and mostly involves the abdominal and pelvic peritoneum. Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Patients typically present with symptoms of abdominal sarcomatosis. Tumors are formed by small, round cancer cells and are surrounded by scarlike tissue. One of the most challenging diagnostic categories within tumors of the sinonasal tract is the small round blue cell tumors. Highgrade malignant poorly differentiated tumor composed of small round cells. A 49yearold japanese man noticed a mass in the right parotid gland. Desmoplastic small round cell tumor dsrct is a rare type of soft tissue cancer sarcoma that usually begins in the abdomen. Desmoplastic small round cell tumor in the abdomen and. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive neoplasm.
Small round blue cell tumor srbct or a small round cell tumour srct is a group of malignant neoplasms which are seen more often in children 020 yearsold than in adults. Desmoplastic small round cell tumor dsrct is a rare neoplasm that was first described by gerald and rosai in 1989. Dsrct causes multiple tumors to form in the abdomen and pelvis area, but exactly where it begins usually is not known. Ultrasound examination revealed a solid tumor about 2 cm in diameter. Ewing sarcoma and dsrct are treated similarly due to similar oncogene activation pathways, and dsrct has been represented in very limited numbers in sarcoma studies. An update on recent molecular genetic advances shi wei, md, phd and gene p. Desmoplastic small round cell tumor dsrct is a rare soft tissue tumor that generally involves the retroperitoneum, pelvis, omentum and mesentery in younger patients.
Desmoplastic small round cell tumor dsrct is a type of cancer. Soft tissue small round blue cell tumors of childhood. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive mesenchymal tumor that develops in the abdominal cavity of young men adults. Small round blue cell tumors of the sinonasal tract. The tumor shows positive immunostaining with antibodies to cytokeratin, vimentin, and desmin, a pattern unique to desmoplastic small round cell tumor.
Oct 19, 20 small round blue cell tumors srbcts mnemonic. Definition group of highly aggressive malignant neoplasm which are composed predominantly of small, round and monotonous undifferentiated cells with high nuclearcytoplasmic ratio. Histologically, many of the pediatric neoplasms have more primitive origin characterized by sheets of cells,with small, round nuclei. Sep 09, 2016 desmoplastic small round cell tumor dsrct is a rare type of soft tissue cancer sarcoma that usually begins in the abdomen. Approximately 85% of ewing sarcomas harbor the t11. The cytological diagnosis of these tumors can be difficult because they show morphological features quite similar to other small round blue cells tumors. Desmoplastic small round cell tumor dsrct is a rare but highly aggressive neoplasm that afflicts mainly adolescents and young adults. First described in 1989 2, 3, dsrcts name derives from its distinctive histological findings, which include clusters of undifferentiated, small round blue cells surrounded by abundant desmoplasia. Alkylator and anthracyclines based regimens are widely used as therapy and an initial response is common. Immunohistochemistry of small blue round cell tumors. It is formed by small, round cancer cells surrounded by scarlike tissue and is often found in the tissue peritoneum that lines the inside.
We retrospectively analysed 41 patients treated at or referred to two regional referral centres in the uk between 1991 and 2012. These tumors were subjected to methylation profiling and could be assigned to ewing sarcoma in 14 47%, to small blue round cell tumors with cic alteration in 6 20%, to small blue round cell. It primarily affects children and young adults and is more common in males. Small round blue cell tumors radiology reference article. The tumor usually begins and spreads over the surface of the peritoneum 4, 12, 15, 16.
Desmoplastic small round cell tumor of the parotid gland. Fewer than 200 cases have been reported in the literature, and only a few have included a description of radiologic findings 16. The diagnosis and management of desmoplastic small round cell. Desmoplastic small round cell tumors dsrct are a type of softtissue sarcoma. Sometimes other tumor types are included in this group. It is characterized by a distinct immunohistochemical profile and a recurrent, specific, chromosomal translocation. We present a case of a 10yearold caucasian boy with a desmoplastic small round cell tumor refractory to conventional treatment who exhibited a good response. Dsrct mainly develops in adolescent and young adults with a strong male predominance. From virchow onward, surgical pathologists have been well acquainted with the diagnostic conundrum known as the small round blue cell tumor, so named for. Despite multimodal treatment approaches, the prognosis for dsrct is extremely poor.
Modern diagnosis of small cell malignancies of children surgical. It is formed by small, round cancer cells surrounded by scarlike tissue and is often found in the tissue peritoneum that lines the inside of the abdomen and pelvis. Mar 10, 2019 desmoplastic small round cell tumor is an extremely rare and aggressive cancer that affects mainly adolescents and young adults. Mechanism of action of trabectedin in desmoplastic small. A molecular hallmark of dsrct is the ewswt1 reciprocal translocation. Pnets belong to the ewings sarcoma family of tumors, based on shared chromosomal translocation at ewsr1 ewing sarcoma breakpoint region 1. Many other centres have used aggressive combination chemotherapy alkylating chemotherapyp6 protocol, and. Bone marrow infiltration in small blue cell tumours. Small blue round cell turners sbrcts are a set of malignancies that have a particular proclivity for the pediatric age group.
Desmoplastic smallroundcell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive neoplasm described as a distinct clinicopathologic entity in 1989 by gerald and rosai 1. It is usually found in the abdomen belly, but it can also occur in other parts of the body. It is an extremely rare, highgrade tumor that most often causes diffuse involvement of the abdominal cavity and visceral organs. Pdf round cell tumors as the name suggest are comprised round cells with increased nuclearcytoplasmic ratio. Desmoplastic small round cell tumor is a rare malignant neoplasm. It is an aggressive and often misdiagnosed neoplasm of children and young adult. These ewinglike sarcomas also show polyphenotypia, aggressiveness, and drug resistance similar to desmoplastic small round cell tumor. Arraybased dnamethylation profiling in sarcomas with. Smallblueroundcell tumor an overview sciencedirect topics.
Differential diagnosis of paediatric small round and blue. The current definition includes several historical entities, such as ewing sarcoma, peripheral primitive neuroectodermal tumor pnet, askins tumor ewing sarcoma of the chest wall, and adamantinomalike ewing sarcoma, all of which share the same oncogenic. The diagnosis and management of desmoplastic small round. Desmoplastic small round cell tumors dsrct md anderson. May 18, 2019 desmoplastic small round cell tumor dsrct is a rare soft tissue tumor that generally involves the retroperitoneum, pelvis, omentum and mesentery in younger patients. Primitive neuroectodermal tumors pnets are smallblueroundcell malignancies, predominantly arising in the soft tissues or bones in children and young adults. Desmoplastic small round cell tumor dsrct is a rare and aggressive mesenchymal malignancy. Desmoplastic small round cell tumour dsrct is a rare but highly aggressive neoplasm that typically occurs in adolescent and young males. Differential diagnosis of paediatric small round and blue cell tumors an update ivo leuschner kiel paediatric tumor registry dept. These tumors are notoriously difficult to distinguish by histologic evaluation alone, and in recent years a number of new immunohistochemical markers have emerged that can aid in the correct categorization of these lesions.
Small blue round cell tumor of the interosseous membrane. Desmoplastic small round cell tumor dsrct was first described in 1989 by gerald and rosai who described a distinct type of small round blue cell tumor with a predilection for serosal surfaces such as the peritoneum and the tunica vaginalis that affected mostly caucasian males in the second or third decade of life. Dec 21, 2018 the small round blue cell tumors include neuroblastoma, rhabdomyosarcoma, nonhodgkins lymphoma, and the ewings family of tumors. The small round blue cell tumors include neuroblastoma, rhabdomyosarcoma, nonhodgkins lymphoma, and the ewings family of tumors. Trabectedin for desmoplastic small round cell tumours.
Despite aggressive therapy, median survival ranges from. Desmoplastic small round cell tumor genetic and rare. In histopathology, a smallblueroundcell tumour abbreviated sbrct, also known as a smallroundbluecell tumor srbct or a smallroundcell tumour srct, is any one of a group of malignant neoplasms that have a characteristic appearance under the microscope, i. The cytoplasm of these cells is pale blue and contains variable numbers of. Pdf thoracic presentations of small round blue cell tumors. A number of tumors share similar histology, composed of relatively uniform primitive small round blue cells. The most common location is the peritoneal cavity, although tumors arising from other sites have been described. Medulloblastoma melanoma rhabdomyosarcoma retinoblastoma. Primary pnets of the lung are extremely rare, with fewer. The current definition includes several historical entities, such as ewing sarcoma, peripheral primitive neuroectodermal tumor pnet, askins tumor ewing sarcoma of the chest wall, and adamantinomalike ewing sarcoma, all of which share the same oncogenic fusions and similar biologic.
Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic. Keywords small round cell tumor, chromosomal translocation, molecular. Despite multiple therapeutic strategies, most patients have resistant disease with very poor survival rates. Request pdf the diagnosis and management of desmoplastic small round cell tumor. Nov 26, 20 desmoplastic small round cell tumour dsrct is a rare but frequently fatal sarcoma, and many of its characteristics still require further clarification. Small blue round cell tumour definition of small blue round. Round cell tumors of bone are a divergent group of neoplasms that largely constitute ewing sarcomaprimitive neuroectodermal tumor, small cell osteosarcoma, langerhans cell his. Primitive neuroectodermal tumor pnet of the lung in an. Biopsies are usually small and limited, resulting in.
The term small round blue cell tumors is used to refer to a group of generally highly aggressive malignant neoplasms, seen under the microscope as monotonous proliferations of small cells with scant cytoplasm. Because of their primitive histologic appearance many childhood tumor have been collectively referred to as. Article information, pdf download for a practical approach to the differential diagnosis. Small blue round cell tumor of the interosseous membrane bearing. Pdf the term small round blue cell is frequently used as a cursory. Usually affecting young males and presenting as an abdominal mass, the tumor grows along serosal membranes with multiple nodules attached to the peritoneal surface 2. Arraybased dnamethylation profiling in sarcomas with small. Small round blue cell tumor with cicdux4translocation antonescu, 20 cd99. A generic term for tumours almost invariably malignant characterised by sheets of relatively homogenous small cells with scant cytoplasm and prominent blue nuclei, which cannot be reliably differentiated by light microscopy and require ancillary studiesin particular, immunohistochemistryto identify cell. The first case of a dsrct was recorded in 1989, and about 200 cases have been diagnosed since then. Smallblueroundcell tumor an overview sciencedirect. Small blue cells, bone marrow infiltration, staging introduction the small round blue cell tumors are a group of neoplasms occurring usually in children and adolescents and are characterized by small round relatively undifferentiated cells. Smallroundbluecell tumor srbct or a smallroundcell tumour srct is a group of malignant neoplasms which are seen more often in children 020 yearsold than in adults.
Only 850 such patients were reported in the medical literature. The group of small round blue cell tumors of childhood represents a descriptive category of malignant pediatric neoplasms characterized by the presence of morphologically poorly differentiated cells containing large. An earlier study has found a maletofemale ratio of approximately 5 to 1 and a mean age at diagnosis of 22 years. In any case, small round blue cell tumors are malignant tumors that are hard to distinguish from each other using conventional microscopic analysis.
Desmoplastic small round cell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. We described four cases of dsrct with cytological sampling. Metastatic small round blue cell tumors in children and young women have been the subject of multiple case reports and small studies. Irinotecan and vincristine for the treatment of refractory. Small blue round cell tumor an overview sciencedirect topics.
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