Small blue round cell tumors of childhood rarely present in the foot or ankle. The tumor has a specific genetic abnormality that helps confirm the diagnosis. An earlier study has found a maletofemale ratio of approximately 5 to 1 and a mean age at diagnosis of 22 years. Desmoplastic small round cell tumor in the abdomen and pelvis. Small round blue cell tumours of childhood include neuroblastoma nb, rhabdomyosarcoma, nonhodgkins lymphoma, ewings sarcoma and the closely. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma. Small round blue cell tumor with cicdux4translocation antonescu, 20 cd99. Highgrade malignant poorly differentiated tumor composed of small round cells. 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. 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. Pathology reports of all srbct and their blocks were retrieved. Small blue round cell tumor an overview sciencedirect topics. Small round blue cell tumor of seminal vesicle in a young.
Differential diagnosis of paediatric small round and blue cell tumors an update ivo leuschner kiel paediatric tumor registry dept. Other small round blue cell tumors, including rhabdomyosarcoma, ewing sarcomaprimitive neuroectodermal tumor, desmoplastic round. Mota sections of oncological urology and pathology, araujo jorge hospital, goiania, goias, brazil abstract seminal vesicle tumor is a rare disease with unclear origin. This small, round, blue cell tumor is one of the most lethal of bone sarcomas. Small round blue cell tumours of childhood include neuroblastoma nb, rhabdomyosarcoma, nonhodgkins lymphoma, ewings sarcoma and the closely related primitive neuroectodermal tumour pnet and the blastemic component of wilms tumour.
Desmoplastic small round cell tumors dsrct national. In any case, small round blue cell tumors are malignant tumors that are hard to distinguish from each other using conventional microscopic analysis. Smallblueroundcell tumor an overview sciencedirect. 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. First described in 1989, it is characterised by clusters of poorly differentiated small round blue cells lying within an abundant. Pathology outlines desmoplastic small round cell tumor.
Desmoplastic small round cell tumor dsrct is a rare but highly aggressive neoplasm that afflicts mainly adolescents and young adults. Sometimes other tumor types are included in this group. 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. Small blue round cell tumor an overview sciencedirect. Because of their primitive histologic appearance many childhood tumor have been collectively referred to as small round blue cell tumor. One of the most challenging diagnostic categories within tumors of the sinonasal tract is the small round blue cell tumors. 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.
Medulloblastoma melanoma rhabdomyosarcoma retinoblastoma. Dec 21, 2018 the small round blue cell tumors include neuroblastoma, rhabdomyosarcoma, nonhodgkins lymphoma, and the ewings family of tumors. Desmoplastic small round blue cell tumors dsrcts originate from a cell with multilineage potential. It is usually found in the abdomen belly, but it can also occur in other parts of the body.
The first case of a dsrct was recorded in 1989, and about 200 cases have been diagnosed since then. The small round blue cell tumors include neuroblastoma, rhabdomyosarcoma, nonhodgkins lymphoma, and the ewings family of tumors. Histologically, many of the pediatric neoplasms have more primitive origin characterized by sheets of cells,with small, round nuclei. Small blue round cell tumor journal of the american. Highly aggressive undifferentiated small round blue cell. These ewinglike sarcomas also show polyphenotypia, aggressiveness, and drug resistance similar to desmoplastic small round cell tumor. Only 850 such patients were reported in the medical literature. 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. 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. This group of tumors encompasses a wide diversity of both benign and malignant neoplasms. Desmoplastic small round cell tumors dsrct md anderson. Round cell tumors of bone are a divergent group of neoplasms that largely constitute ewing sarcomaprimitive neuroectodermal tumor, small cell osteosarcoma, langerhans cell his.
Feb 28, 2017 desmoplastic small round cell tumor age. A molecular hallmark of dsrct is the ewswt1 reciprocal translocation. In the case of dsrct, the translocation creates a unique fusion chimeric transcript involving the wt1 wilms tumor and ews. Fewer than 200 cases have been reported in the literature, and only a few have included a description of radiologic findings 16. Bone marrow infiltration in small blue cell tumours. Dsrct causes multiple tumors to form in the abdomen and pelvis area, but exactly where it begins usually is not known. The following is a case presentation of an 18yearold male with a large softtissue mass of. Desmoplastic small round cell tumors, or dsrct, are tumors that grow in the abdomen and pelvic area of the body. Small blue round cell tumor with lobulated growth pattern and abundant neuropil homer wright pseudorosettes and flexnerwintersteiner rosettes may be seen the most important prognostic factors are hyams grade and kadish stage. Desmoplastic small round cell tumors dsrct are a type of softtissue sarcoma. Smallblueroundcell tumor an overview sciencedirect topics. 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. Despite aggressive therapy, median survival ranges from. 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 pubmed central pmc. Desmoplastic small round cell tumor dsrct is a type of cancer. Small blue round cell tumour definition of small blue round.
Small blue round cell tumour definition of small blue. Pelvic region and sometimes the entire tumor is limited to the paratesticular region other sites. Small round cell tumors of bone archives of pathology. Small round cell tumors are generally malignant tumors, such as ewings sarcoma, peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, nonhodgkins lymphoma, and wilms tumor. Small round blue cell tumors lymphoma neuroblastoma rhabdomyosarcoma ewing sarcomaprimitive neuroectodermal tumor pnet desomplastic small round cell tumor poorly differententiated synovial sarcoma. Biopsies are usually small and limited, resulting in considerable. 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. Ewings sarcoma and primitive neuroectodermal tumor. Small round blue cell tumors lymphoma tumor board november 6, 2015. Desmoplastic small round cell tumor in the abdomen and. 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. 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. The histologic and immunohistochemical differentiation of ewings sarcomaprimitive neuroectodermal tumor espnet from other small, blue, round cell tumors may be difficult.
The most common location is the peritoneal cavity, although tumors arising from other sites have been described. One such area is the small round blue cell tumor category. Nests and anastomosing cords of uniform appearing small blue cells within desmoplastic stroma, sometimes with tubules and pseudorosettes scant eosinophilic cytoplasm with prominent cell borders nuclei are round, oval or elongated or grooved with finely dispersed chromatin and one or two small nucleoli. Metastatic small round blue cell tumors in children and young women have been the subject of multiple case reports and small studies. 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. Generally, it is presented as a pelvic mass that can be detected. The appearance is that of small, round, primitive cells that stain blue with conventional staining techniques for biopsy analysis. Advantage cytologic diagnosis of poorly differentiated. It is an extremely rare, highgrade tumor that most often causes diffuse involvement of the abdominal cavity and visceral organs. Potential therapeutic genomic alterations in desmoplastic. It is proposed that this represents yet another member of the continuously enlarging and evolving family of small round blue cell tumors of infancy and childhood that features, more than any other member of this group, the capacity for. They also share many demographic, radiographic and clinical similarities. Desmoplastic smallroundcell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Pdf immunohistochemical characterization of small round blue.
An update on recent molecular genetic advances shi wei, md, phd and gene p. 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. 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. From the standpoint of karyotype, dsrct shows a characteristic balanced translocation involving chromosomes 11 and 22, similar to pnet and ewings sarcomas.
Small round blue cell tumors of the sinonasal tract lester dr. 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. 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. Oct 19, 20 small round blue cell tumors srbcts mnemonic.
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. The cytoplasm of these cells is pale blue and contains variable numbers of. Tumors are formed by small, round cancer cells and are surrounded by scarlike tissue. Desmoplastic small round cell tumor dsrct is a highly aggressive and rare mesenchymal tumor, around 200450 cases have been so described so far 1,2 despite aggressive therapy, median survival ranges from 17 to 25 month 2,8 a 5. Microscopic sections of the lesion consisted predominantly of sheets of poorly differentiated malignant neoplastic cells with moderately pleomorphic vesicular nuclei, scant clear cytoplasm and abundant mitotic activity. 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 radiology reference article. Bone marrow biopsy is indicated for staging the disease, and if marrow infiltration is detected, it is a poor prognostic indicator objective. Desmoplastic small round cell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. To evaluate the frequency and pattern of bone marrow infiltration by small round blue cell tumors. The following is a case presentation of an 18yearold male with a large softtissue mass of the foot with associated lung metastasis. In an undifferentiated tumor, showing a small round blue cell morphology, using the mnemonic mr sleep helps to highlight tumors to consider. 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. Small round blue cell tumor of seminal vesicle in a young patient adriano a.
Blue cell tumor definition of blue cell tumor by medical. Desmoplastic small round cell tumour dsrct is a rare but highly aggressive neoplasm that typically occurs in adolescent and young males. Intraoperative touch preparation of the lesional cut surface was suspicious for small round blue cell srbc tumor fig. Desmoplastic small round cell tumor dsrct is a rare and aggressive mesenchymal malignancy. Differential diagnosis of paediatric small round and blue. It accounts for approximately 6% of all malignant tumors, affecting patients in the first to third decades. 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.
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. Small round blue cell tumor of seminal vesicle in a young patient. Soft tissue small round blue cell tumors of childhood. Reviewarticle desmoplastic small round blue cell tumor. A number of tumors share similar histology, composed of relatively uniform primitive small round blue cells.
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