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10.1097/PAS.0000000000000492

http://scihub22266oqcxt.onion/10.1097/PAS.0000000000000492
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suck abstract from ncbi


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pmid26371783      Am+J+Surg+Pathol 2016 ; 40 (1): 51-9
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  • Novel PAX3-NCOA1 Fusions in Biphenotypic Sinonasal Sarcoma With Focal Rhabdomyoblastic Differentiation #MMPMID26371783
  • Huang SC; Ghossein RA; Bishop JA; Zhang L; Chen TC; Huang HY; Antonescu CR
  • Am J Surg Pathol 2016[Jan]; 40 (1): 51-9 PMID26371783show ga
  • Sarcomas arising in the sinonasal region are uncommon and encompass a wide variety of tumor types, including the newly described biphenotypic sinonasal sarcoma (BSNS), which is characterized by a monomorphic spindle cell proliferation with dual neural and myogenic phenotypes. Most BSNSs harbor a pathognomonic PAX3-MAML3 fusion driven by t(2;4)(q35;q31.1), whereas the alternative fusion partner gene remains unidentified in a subset of PAX3-rearranged cases. As NCOA1 on 2p23 is a known partner in PAX3-related fusions in other tumor types (ie, alveolar rhabdomyosarcoma), we investigated its status by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction assays in 2 BSNS cases showing only PAX3 gene rearrangements. Novel PAX3-NCOA1 fusions were identified in these 2 index cases showing an inv(2)(q35p23) by FISH and confirmed by reverse transcription polymerase chain reaction. Five additional BSNS cases with typical morphology were studied by FISH, revealing a PAX3-MAML3 fusion in 4 cases and only PAX3 rearrangement in the remaining case without abnormalities in MAML3 or NCOA1 gene. Except for 1 case with surface ulceration, all other tumors lacked increased mitotic activity or necrosis, and all cases immunohistochemically coexpressed S100 protein and actin, but lacked SOX10 reactivity. Interestingly, the 2 PAX3-NCOA1-positive cases showed desmin reactivity and displayed a small component of rhabdomyoblastic cells, which were not seen in the more common PAX3-MAML3 fusion cases. In conclusion, we report a novel PAX3-NCOA1 fusion in BSNS, which appears to be associated with focal rhabdomyoblastic differentiation and should be distinguished from PAX3-NCOA1-positive alveolar rhabdomyosarcoma or malignant Triton tumor. SOX10 immunohistochemistry is a useful marker in distinguishing BSNS from peripheral nerve sheath tumors.
  • |*Cell Differentiation[MESH]
  • |*Gene Fusion[MESH]
  • |Adult[MESH]
  • |Aged[MESH]
  • |Biomarkers, Tumor/analysis/*genetics[MESH]
  • |Cell Proliferation[MESH]
  • |Diagnosis, Differential[MESH]
  • |Female[MESH]
  • |Humans[MESH]
  • |Immunohistochemistry[MESH]
  • |In Situ Hybridization, Fluorescence[MESH]
  • |Male[MESH]
  • |Middle Aged[MESH]
  • |Neoplasms, Muscle Tissue/chemistry/*genetics/pathology[MESH]
  • |New York City[MESH]
  • |Nuclear Receptor Coactivator 1/*genetics[MESH]
  • |PAX3 Transcription Factor[MESH]
  • |Paired Box Transcription Factors/*genetics[MESH]
  • |Paranasal Sinus Neoplasms/chemistry/*genetics/pathology[MESH]
  • |Phenotype[MESH]
  • |Predictive Value of Tests[MESH]
  • |Reverse Transcriptase Polymerase Chain Reaction[MESH]
  • |SOXE Transcription Factors/analysis[MESH]
  • |Sarcoma/chemistry/*genetics/pathology[MESH]


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