Desmoplastic small round cell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. An organoid growth pattern is also potentially apparent figs. Small blue round cell tumor an overview sciencedirect. Apr 25, 2019 a neuroendocrine tumor net is a rare type of tumor that arises from specialized body cells called neuroendocrine cells. The genomics of desmoplastic small round cell tumor. However, recent clinicopathologic and molecular genetic analyses indicate that cds is an independent disease entity from es. The objective of our study was to determine the diagnostic accuracy of fine needle aspiration biopsy in small round cell tumors of childhood, keeping histopathology as the gold standard. Desmoplastic small round cell tumor in the abdomen and. Immunohistochemical expression of wt1 by desmoplastic small round cell tumor. Sixty biopsies of small cell lesions of bone and adjacent soft tissue were drawn from the consultation files of the armed forces institute of pathology and the rhode island hospital. Pdf the small round blue cell tumors of the sinonasal area. Antiangiogenic effects in patients with progressive. Although classical histological features are generally highly suggestive of tumor type, on occasion these tumors may be indistinguishable by light microscopy, making a definitive. Malignant small round cell tumors small blue cell malignancies prototypically are composed of cells with round to oval nuclei, scant cytoplasm, and often extensive cellular dissociation.
Electron microscopy and other ancillary techniques in the diagnosis of small round cell tumors. Ewing sarcoma shows considerable histologic overlap with other round cell tumors. An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or. A malignant serosa related small round cell tumor with an epithelial growth pattern in a desmoplastic stroma first described by gerald and rosai in 1989 pediatr pathol 1989.
Desmoplastic small round blue cell tumors dsrcts originate from a cell with multilineage potential. Usually, it is provided by request, typically from the peds hemeonc team relayed to dr. Desmoplastic small round cell tumors symptoms and causes. Nov 28, 2018 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 ewsr1wilms tumor suppressor wt1 translocation. Pathology outlines desmoplastic small round cell tumor. Per normal english punctuation, it should be smallblueroundcell tumour or smallroundbluecell tumour, and this is found in aberrant leukocyte common antigen expression in metastatic small cell lung carcinoma. In histopathology, a small blue round cell tumour abbreviated sbrct, also known as a small round blue cell tumor srbct or a small round cell tumour srct, is any one of a group of malignant neoplasms that have a characteristic appearance under the microscope, i. Because of their primitive histologic appearance many childhood tumor have been collectively referred to as small round blue cell tumor.
Histologically, dsrct consisted of nests of small round cells of primitive. Prominent nuclei eccentrically located in a strongly basophilic cytoplasm. Even though questions remain regarding cell of origin and histogenesis, cytogenetic and molecular genetic studies have enhanced our understanding in bringing together some of these tumors. The term round cell tumor describes a group of highly aggressive malignant tumors composed of relatively small and monotonous undifferentiated cells with increased nuclearcytoplasmic ratio. Gerald, md, phd international journal of surgical pathology 2000 8. Twentynine of the cases were the subject, in part, of an earlier report of the immunohistochemical features of small round cell tumors of bone. The disparity in treatment modalities, and hence, clinical outcome in the different subsets of sbrcts makes the correct diagnosis crucial. Desmoplastic small round cell tumour dsrct is a rare but highly aggressive neoplasm that typically occurs in adolescent and young males. The small round cell tumors of childhood include neuroblastoma, the ewing family of tumors, rhabdomyosarcoma, lymphoma, and desmoplastic small round cell tumor.
It is an extremely rare, highgrade tumor that most often causes diffuse involvement of the abdominal cavity and visceral organs. Small round blue cell tumors radiology reference article. To study importance of immunohistochemistry pro files in malignant small round cell tumors. Ewing sarcoma primative neuroectodermal tumour pnet. The cell morphology and aggressive behavior of the neoplasm were compatible with malignant small round cell tumor msrct in humans, a term used for a group of neoplasms characterized by small. Desmoplastic small round cell tumors dsrct md anderson. Desmoplastic small round cell tumors dsrct are a type of softtissue sarcoma.
Fine needle aspiration biospy fnab is a simple, cost effective procedure, which can be carried out in the outpatient department. They often share similar morphology and sometimes show immunophenotypic overlap. Round nuclei possess dense, coarse chromatin with cartwheellike distribution. Aug, 2018 fine needle aspiration biospy fnab is a simple, cost effective procedure, which can be carried out in the outpatient department. Primary desmoplastic small round cell tumor of the duodenum. Malignant small round cell tumors pubmed central pmc. Cytology of desmoplastic small round cell tumor crapanzano. Malignant small round cell tumors msrct is a term used for tumors composed of malignant round cells that are slightly larger or double the size of red blood cells in airdried smears. Malignant small round cell tumors are characterised by small, round, relatively undifferentiated cells. Desmoplastic small round cell tumor dsrct was a soft tissue sarcoma of mesenchymal cell. Small blue round cell tumor an overview sciencedirect topics. We used wholeexome sequencing to interrogate six consecutive pretreated dsrcts whose gene expression was previously investigated.
Desmoplastic small round cell tumors occur most often in young men and boys, though they can occur at any age and can also affect women. The desmoplastic small round cell tumor dsrct is an extremely rare tumor that mainly affects adolescents and mostly involves the abdominal and pelvic peritoneum. Histologically, many of the pediatric neoplasms have more primitive origin characterized by sheets of cells,with small, round nuclei. Small round cell tumors of soft tissue are a group of malignant neoplasms composed of monotonous undifferentiated cells with high nuclearcytoplasmic ratio, which occur more frequently, although not exclusively, in childhood. A special biology kit for pediatric tumors may be available in the for pediatric tumors to be sent to bpc.
The genomics of desmoplastic small round cell tumor reveals. Differential diagnoses include all the small round cells tumors. Small round cell tumors of bone are a heterogeneous group of neoplasms with overlapping clinical, radiologic, morphologic, and immunohistochemical features. Desmoplastic small round cell tumor dsrct is a rare type of soft tissue cancer sarcoma that usually begins in the abdomen. The most common location is the peritoneal cavity, although tumors arising from other sites have been describe d. The most common type of round cell tumor is the mast cell tumor. A molecular hallmark of dsrct is the ewswt1 reciprocal translocation.
Diagnosis and classification of the small roundcell tumors. The tumor shows positive immunostaining with antibodies to cytokeratin, vimentin, and desmin, a pattern unique to desmoplastic small round cell tumor. Nkx22, a homeodomain transcription factor involved in neuroendocrineglial differentiation and a downstream. Small cell differentiation in ini1negative tumours a small cell differentiation is within the spectrum of rhabdoid tumours a genetic change in the smarca4 gene is found in a small subset of tumors instead of ini1 loss resulting in a loss of brg1 expression smarca4 gene changes are typically found in small cell. Malignant small round cell tumors rajwanshi a, srinivas r.
They also share many demographic, radiographic and clinical similarities. Primary small round cell tumors of the bone are a heterogeneous group of malignant neoplasms presenting predominantly in children and adolescents. Its clear that many authors have trouble with the name. Orbital desmoplastic small round cell tumor in an infant. Abstract desmoplastic small round cell tumor dsrct is a recently. Differential diagnosis of paediatric small round and blue cell tumors an update ivo leuschner kiel paediatric tumor registry dept. Cicdux4 sarcoma cds or cicrearranged sarcoma is a subcategory of small round cell sarcoma resembling the morphological phenotypes of ewing sarcoma es. The first case of a dsrct was recorded in 1989, and about 200 cases have been diagnosed since then. Certain breeds namely, those that are descended from bulldog lines have a much higher rate of tumor growth of this. Pediatric pathology grossing guidelines specimen procurement kit note. While many of these tumors were discussed in the article on translocationassociated sarcomas in this issue of seminars in oncology, as most of these sarcomas are translocationassociated, a number of points are worth emphasizing. Definition group of highly aggressive malignant neoplasm which are composed predominantly of small, round and monotonous undifferentiated cells with high nuclearcytoplasmic ratio. 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.
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. These aggressive cancers often form as multiple tumors in the tissue peritoneum that lines the inside of the abdomen and pelvis. Cicdux4 induces small round cell sarcomas distinct from. An external file that holds a picture, illustration, etc. A number of tumors share similar histology, composed of relatively uniform primitive small round blue cells. 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 cell neoplasms encompass nearly all diagnostic categories, including lymphoma, carcinomas, and sarcomas. 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.
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. Primary desmoplastic small round cell tumor of the tibia. It is formed by small, round cancer cells surrounded by scarlike tissue and is often found in the tissue peritoneum that lines the inside. Neuroendocrine tumor genetic and rare diseases information. A practical approach to the differential diagnosis of small round cell tumors of infancy using recent scientific and technical advances william l. Because a neuroendocrine tumor arises from cells that produce hormones, the tumor can also produce hormones. Small cell osteosarcoma of bone nakajima 1997 cancer. 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. This type of tumor accounts for roughly one quarter of all of the skin tumors that develop in dogs, and it usually strikes dogs that are older than 8 years of age. Desmoplastic small round cell tumor dsrct is a rare malignancy most commonly originating in the peritoneum. Differential diagnosis of paediatric small round and blue.
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 ewsr1wilms tumor suppressor wt1 translocation. Malignant small round cell tumors is a term used for tumors composed of malignant round cells that are slightly larger or double the size of red blood cells in airdried smears figure 6. Differential diagnosis of small round cell tumors is particularly difficult due to their. A short differential diagnosis of small round cell tumours. Evaluation of nkx22 expression in round cell sarcomas and.
Although initial management still needs standardization, many centers will use multimodal treatment including intensive chemotherapy, extensive surgical resection followed by radiotherapy. Dsrct mainly develops in adolescent and young adults with a strong male predominance. Small round blue cell tumor with cicdux4translocation antonescu, 20 cd99. Many of these tumor types are more common in young. Orbital desmoplastic small round cell tumor in an infant case. Despite aggressive therapy, median survival ranges from. We used wholeexome sequencing to interrogate six consecutive pretreated dsrcts whose gene expression was previously. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma. Primary desmoplastic small round cell tumor of the. Small cell osteosarcoma of bone, first defined in 1979, 1 is a rare form of osteosarcoma that poses unique diagnostic and treatment considerations.
Few ancillary markers have been used in the differential diagnosis of cds, and additional cdsspecific biomarkers. Sep 09, 2016 desmoplastic small round cell tumor dsrct is a rare type of soft tissue cancer sarcoma that usually begins in the abdomen. This category classically includes certain subtypes of sarcomas, carcinomas, lymphomas, melanoma, and neuroblastoma box 8. 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. Desmoplastic small round cell tumor dsrct is a rare neoplasm that was first described by gerald and rosai in 1989. Case report solidpattern desmoplastic small round cell tumor of.
A 14yearold girl presented with intermittent epigastric pain. Orbital desmoplastic small round cell tumor in an infant amy huang, bs,a and nishita patel, md b auniversity of central florida college of medicine, orlando. It primarily affects children and young adults and is more common in males. Most common small round cell tumour is nonhodgkin lymphoma. Nkx22, a homeodomain transcription factor involved in. Loose aggregations of small round cells with ovoid nuclei separated by collagenous bands of fine eosinophilic matrices.
A neuroendocrine tumor net is a rare type of tumor that arises from specialized body cells called neuroendocrine cells. Smallblueroundcell tumor an overview sciencedirect. This group of neoplasms is characterized by small, round, relatively undifferentiated cells. The documents contained in this web site are presented for information purposes only. An update on recent molecular genetic advances shi wei, md, phd and gene p. They include ewing sarcomaperipheral neuroectodermal tumor or ewing family tumors, lymphoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Few ancillary markers have been used in the differential diagnosis of cds, and additional cds.
Patients typically present with symptoms of abdominal sarcomatosis. 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. We retrospectively analysed 41 patients treated at or referred to two regional referral centres in the uk between 1991 and 2012. They quickly spread to other structures within the abdomen. Desmoplastic small round cell tumor dsrct is a very rare mesenchymal tumor that mainly affects teenagers and young adults with a mean age at diagnosis around 2025 years. An earlier study has found a maletofemale ratio of approximately 5 to 1 and a mean age at diagnosis of 22 years. These cells have traits of both nerve cells and hormoneproducing cells, and release hormones into the blood in response to signals from the nervous system. A practical approach to the differential diagnosis of. Desmoplastic small round cell tumor genetic and rare.
942 240 226 1386 686 1310 592 1303 1004 1270 342 1334 1512 462 667 1468 568 772 322 1415 981 1049 1374 201 75 184 6 1131 486 1184 341 631 1059 723