Desmoplastic small round cell tumors, or dsrct, are tumors that grow in the abdomen and pelvic area of the body. We present a case of a small round blue cell tumor and discuss the diagnostic pitfalls, with particular attention to overlapping immunohistochemical features of tumors in the differential diagnosis. Metastatic small round blue cell tumors in children and young women have been the subject of multiple case reports and small studies. Small blue round cell tumor an overview sciencedirect. Desmoplastic small round cell tumour dsrct is a rare but highly aggressive neoplasm that typically occurs in adolescent and young males. The content on this site is intended for health professionals. Fewer than 200 cases have been reported in the literature, and only a few have included a description of radiologic findings 16. In addition to the wellknown family of small round blue cell tumors of childhood, other small cell neoplasms that may arise within the ovary or involve the ovary include intraabdominal desmoplastic small round cell tumor, metastatic small cell carcinoma, peripheral and central primitive neuroectodermal tumor, and endometrial stromal sarcoma. The small round blue cell tumors include neuroblastoma, rhabdomyosarcoma, nonhodgkins lymphoma, and the ewings family of tumors. Differential diagnosis of paediatric small round and blue.
Small round blue cell tumors of the sinonasal tract lester dr. Bone marrow infiltration in small blue cell tumours. Desmoplastic small round cell tumors dsrcts memorial. 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. Definition group of highly aggressive malignant neoplasm which are composed predominantly of small, round and monotonous undifferentiated cells with high nuclearcytoplasmic ratio. These tumors are seen more often in children than in adults.
They are most often found in white teenagers and young men between age 10 and 30. Accurate diagnosis of these cancers, which include neuroblastoma nb, rhabdomyosarcoma rms, nonhodgkins lymphoma, and the ewings family of tumors ews, is essential because. A molecular hallmark of dsrct is the ewswt1 reciprocal translocation. Differential diagnosis of paediatric small round and blue cell tumors an update ivo leuschner kiel paediatric tumor registry dept. Despite aggressive therapy, median survival ranges from. Other small round blue cell tumors, including rhabdomyosarcoma, ewing sarcomaprimitive neuroectodermal tumor, desmoplastic round. An earlier study has found a maletofemale ratio of approximately 5 to 1 and a mean age at diagnosis of 22 years. Blue cell tumor definition of blue cell tumor by medical.
In the case of dsrct, the translocation creates a unique fusion chimeric transcript in. Desmoplastic small round cell tumor in the abdomen and. This category classically includes certain subtypes of sarcomas, carcinomas, lymphomas, melanoma, and neuroblastoma box 8. An update on recent molecular genetic advances shi wei, md, phd and gene p. The small round blue cell tumors of the sinonasal area. Malignant neoplasms with highgrade monotonous small round cells, originally described in 1921 as round cell sarcoma of unknown origin, occur mostly as primary tumors of long tubular bones in children and adolescents but may also be extraskeletal. The predominance of blue staining is because the cells consist predominantly of nucleus, thus they have scant cytoplasm. 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. Thoracic presentations of small round blue cell tumors. Desmoplastic small round cell tumor genetic and rare. 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. A number of tumors share similar histology, composed of relatively uniform primitive small round blue cells. Desmoplastic small round cell tumors dsrcts, sometimes also referred to as small blue round cell tumor are a type of sarcoma that usually develops in the belly or pelvis. They also share many demographic, radiographic and clinical similarities.
Because of their primitive histologic appearance many childhood tumor have been collectively referred to as small round blue cell tumor. Smallblueroundcell tumor an overview sciencedirect. It primarily affects children and young adults and is more common in males. Small round cell tumor diagnostic approach dr niharika singh md pathology ii yearresident gandhi medical college. Advertisements on this site do not constitute a guarantee or endorsement by the journal, society, or publisher of the quality or value of such product or of the claims made for it by its manufacturer. 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 tumors dsrct are a type of softtissue sarcoma.
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. Small round blue cell tumor with cicdux4translocation antonescu, 20 cd99. This group of tumors encompasses a wide diversity of both benign and malignant neoplasms. This group of neoplasms is characterized by small, round, relatively undifferentiated cells. Pdf the diagnostic classification of small round blue cell tumors of the sinonasal area to include diverse malignancies of epithelial, hematolymphoid. One of the most challenging diagnostic categories within tumors of the sinonasal tract is the small round blue cell tumors. Smallblueroundcell tumor an overview sciencedirect topics. An organoid growth pattern is also potentially apparent figs. The most common location is the peritoneal cavity, although tumors arising from other sites have been described.
Genomic and proteomic alterations in desmoplastic small. The small round blue cell tumors srbcts constitute a heterogeneous group of malignant neoplasms characterized by a monotonous population of undifferentiated tumor cells with relatively smallsized nuclei and scant cytoplasm. Diagnosis of the small round blue cell tumors using. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma. Neuroblastoma aliena sohail, lubna naseem and amna imtiaz department of pathology, pakistan institute of medical sciences, islamabad abstract. Desmoplastic smallroundcell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Pdf the small round blue cell tumors of the sinonasal. 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. 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. Genomic and proteomic alterations in desmoplastic small round bluecell tumors introduction desmoplastic small round bluecell tumors dsrcts originate from a cell with multilineage potential and are defined by a molecular hallmark with ewswt1 reciprocal translocation. Accurate diagnosis of these cancers, which include neuroblastoma nb, rhabdomyosarcoma rms, nonhodgkins lymphoma, and the ewings family of tumors ews, is essential because the treatment options, responses to therapy, and prognoses vary widely.
Biopsies are usually small and limited, resulting in considerable. The cytoplasm of these cells is pale blue and contains variable numbers of. The small round blue cell tumors represent four of the most aggressive solid cancers in the pediatric population, and accurate diagnosis is critical to the management of these patients. In histopathology, a small blue cell tumor or small round blue cell tumors refer to tumors comprised of blue cell with very scant cytoplasm. Histologically, many of the pediatric neoplasms have more primitive origin characterized by sheets of cells,with small, round nuclei. Within the thorax, many srbcts appear as nonspecific pulmonary nodules or masses on imaging. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive mesenchymal tumor that develops in the abdominal cavity of young men adults. Therefore, accurate diagnosis relies on a combination of clinical presentation. Malignant small round cell tumors pubmed central pmc. Dsrct causes multiple tumors to form in the abdomen and pelvis area, but exactly where it begins usually is not known. Small round blue cell tumors lymphoma neuroblastoma rhabdomyosarcoma ewing sarcomaprimitive neuroectodermal tumor pnet desomplastic small round cell tumor poorly differententiated synovial sarcoma small cell osteosarcoma ddx. Thoracic presentations of small round blue cell tumors article pdf available in journal of clinical imaging science 61. Small round blue cell tumours of childhood include neuroblastoma nb, rhabdomyosarcoma, nonhodgkins lymphoma, ewings sarcoma and the closely.
Pdf the small round blue cell tumors of the sinonasal area. From the standpoint of karyotype, dsrct shows a characteristic balanced translocation involving chromosomes 11 and 22, similar to pnet and ewings sarcomas. The term small round blue cell tumors srbcts refers to similar appearing neoplasms composed of small, round, basophilic cells on hematoxylin and eosin h and e staining. In any case, small round blue cell tumors are malignant tumors that are hard to distinguish from each other using conventional microscopic analysis. Small round blue cell blue tumor srbct tumors characterized by small, round, relatively undifferentiated cells cytology is an excellent tool for the diagnosis of these tumors. Desmoplastic small round cell tumors dsrct national. The first case of a dsrct was recorded in 1989, and about 200 cases have been diagnosed since then. Desmoplastic small round blue cell tumors dsrcts originate from a cell with multilineage potential. Highly aggressive undifferentiated small round blue cell. Small round blue cell tumors radiology reference article. Small round cell tumors are generally malignant tumors, such as ewings sarcoma, peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, nonhodgkins lymphoma, and wilms tumor. 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. 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. 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.
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. Pax7 expression in rhabdomyosarcoma, related soft tissue tumors, and small round blue cell neoplasms. The highly malignant small round blue cell tumors srbcts occur in the pediatric, adolescent, and young adult populations in some cases. Histologically similar neoplasms with divergent gene expression patterns are often referred to as ewinglike family of tumors. Round cell tumors of bone are a divergent group of neoplasms that largely constitute ewing sarcomaprimitive neuroectodermal tumor, small cell osteosarcoma, langerhans cell his. The disparity in treatment modalities, and hence, clinical outcome in the different subsets of sbrcts makes the correct diagnosis crucial. Soft tissue small round blue cell tumors of childhood. Medulloblastoma melanoma rhabdomyosarcoma retinoblastoma. Sometimes other tumor types are included in this group. Desmoplastic small round cell tumor dsrct is a rare but highly aggressive neoplasm that afflicts mainly adolescents and young adults.
Patients typically present with symptoms of abdominal sarcomatosis. These ewinglike sarcomas also show polyphenotypia, aggressiveness, and drug resistance similar to desmoplastic small round cell tumor. Desmoplastic small round cell tumors are a type of soft tissue sarcoma, which is a type of cancer that forms in the connective tissue of the body. First described in 1989, it is characterised by clusters of poorly differentiated small round blue cells lying within an abundant. One such area is the small round blue cell tumor category.