A Combined Cytogenetic and Molecular Approach to Diagnosis in a Case of Desmoplastic Small Round Cell Tumor with a Complex Translocation (11;22;21)

Roberts, Paul; Burchill, Susan A.; Beddow, Rachel; Wheeldon, John; Cullinane, Catherine; Lewis, Ian

doi:10.1016/s0165-4608(98)00103-4

Cited by 17 publications

(11 citation statements)

References 19 publications

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“…Immunohistochemical markers such as keratin, neural antigens, and desmin would be useful in the differential diagnosis of these two tumour types. 34 CCS is a rare and aggressive tumour, arising predominantly from the soft tissue of the extremities in young adults, and should be separated from ES/PNET. Most CCSs have a distinctive chromosomal rearrangement t(12;22)(q13;q12), associated with a EWS-ATF1 fusion.…”

Section: Discussionmentioning

confidence: 99%

A practical approach to the clinical diagnosis of Ewing’s sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue

et al. 2005

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Background: Over 90% of Ewing's sarcoma/primitive neuroectodermal tumour (ES/PNET) cases have the t(11;22) chromosomal rearrangement, which is also found in other small round cell tumours, including desmoplastic small round cell tumour (DSRCT) and clear cell sarcoma (CCS). Although this rearrangement can be analysed by fluorescence in situ hybridisation (FISH) using routinely formalin fixed, paraffin wax embedded (FFPE) tissues when fresh or frozen tissues are not available, a sensitive and convenient detection method is needed for routine clinical diagnosis. Aims: To investigate the usefulness of newly developed probes for detecting EWS rearrangement resulting from chromosomal translocations using FISH and FFPE tissue in the clinical diagnosis of ES/PNET, DSRCT, and CCS. Methods: Sixteen ES/PNETs, six DSRCTs, and six CCSs were studied. Three poorly differentiated synovial sarcomas, three alveolar rhabdomyosarcomas, and three neuroblastomas served as negative controls. Interphase FISH analysis was performed on FFPE tissue sections with a commercially available EWSR1 (22q12) dual colour, breakapart rearrangement probe. Results: One fused signal and one split signal of orange and green, demonstrating rearrangement of the EWS gene, was detected in 14 of 16 ES/PNETs, all six DRSCTs, and five of six CCSs, but not in the negative controls. Conclusions: Interphase FISH using this newly developed probe is sensitive and specific for detecting the EWS gene on FFPE tissues and is of value in the routine clinical diagnosis of ES/PNET, DSRCT, and CCS.

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Section: Discussionmentioning

confidence: 99%

A practical approach to the clinical diagnosis of Ewing’s sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue

et al. 2005

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“…The characteristic translocation t(11;22) (p13;q12) is specific for DSRCTs. This fusion product causes a loss of the tumor suppressor function of WT1 and a putative upregulation of various families of growth factors from the EWS gene [3]. The differential diagnosis includes other small round cell tumors, such as metastatic neuroblastoma, Ewing’s sarcoma, small cell carcinoma, and lymphoma, rhabdoid tumor, and small cell osteosarcoma.…”

Section: Discussionmentioning

confidence: 99%

Primary desmoplastic small round cell tumor of the duodenum

Liu¹,

Liu²,

Chen³

2014

Eur J Med Res

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The desmoplastic small round cell tumor (DSRCT) is an extremely rare tumor that mainly affects adolescents and mostly involves the abdominal and pelvic peritoneum. A 14-year-old girl presented with intermittent epigastric pain; abdominal computed tomography and upper gastrointestinal barium X-ray revealed an 8 cm × 10 cm space-occupying mass in the duodenal region. The patient underwent pancreaticoduodenectomy and the final pathologic diagnosis was DSRCT. Although multi-agent systemic chemotherapy was given, the patient died of metastasis 8 months later. Early diagnosis and surgical treatment with adjuvant chemotherapy seems to be the best treatment choice for this disease.

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“…Shen et al6 and Roberts et al7 described a variant where other chromosomes were involved in addition to chromosomes 11 and 22. The translocation t(11; 22)(p13; 12) involves the EWS gene in 22q24 and the WT1 gene in 11p13.…”

Section: Discussionmentioning

confidence: 99%

ThinPrep Cytological Findings of Desmoplastic Small Round Cell Tumor with Extensive Glandular Differentiation: A Case Study

et al. 2013

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Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive neoplasm. The cytological diagnosis of this tumor has only been reported in a few cases. In most of these cases, the diagnosis was made using fine-needle aspiration cytology. Most DSRCTs resemble disseminated carcinomatoses in their clinical manifestation as well as cytomorphologically, even in young-adult patients. These authors report a case of using peritoneal-washing and pleural-effusion ThinPrep cytology to diagnose DSRCT, with extensive glandular differentiation and mucin vacuoles. We found that fibrillary stromal fragment, clinical setting, and adjunctive immunocytochemical staining were most helpful for avoiding misdiagnosis.

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A Combined Cytogenetic and Molecular Approach to Diagnosis in a Case of Desmoplastic Small Round Cell Tumor with a Complex Translocation (11;22;21)

Cited by 17 publications

References 19 publications

A practical approach to the clinical diagnosis of Ewing’s sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue

A practical approach to the clinical diagnosis of Ewing’s sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue

Primary desmoplastic small round cell tumor of the duodenum

ThinPrep Cytological Findings of Desmoplastic Small Round Cell Tumor with Extensive Glandular Differentiation: A Case Study

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