Fusion Gene Profile of Biphenotypic Sinonasal Sarcoma: An Analysis of 44 Cases.

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Fusion Gene Profile of Biphenotypic Sinonasal Sarcoma: An Analysis of 44 Cases.

Histopathology. 2016 Jul 25;

Authors: Fritchie KJ, Jin L, Wang X, Graham RP, Torbenson MS, Lewis JE, Rivera M, Garcia JJ, Schembri-Wismayer DJ, Westendorf JJ, Chou MM, Dong J, Oliveira AM

Abstract
BACKGROUND: Biphenotypic sinonasal sarcoma (SNS) is a locally aggressive tumor that occurs in the sinonasal region. PAX3-MAML3 has recently been identified as a recurrent fusion gene event in this entity, however, a subset of tumors harbors alternate PAX3 rearrangement without involving MAML3.
DESIGN: Forty-four examples of SNS were screened by FISH and RT-PCR to better characterize its molecular profile and identify potential novel fusion genes.
RESULTS: Twenty-four were positive for PAX3-MAML3 (55%), 15 showed rearrangements of PAX3 without MAML3 involvement (34%), 1 showed rearrangement of MAML3 without PAX3 involvement, and 4 were negative for the involvement of either gene (9%). Among 15 cases with PAX3 involvement only, 3 were found to harbor PAX3-FOXO1. Two of these cases arose in the nasal cavities of female patients (ages 31 and 47 years) and one involved bilaterally the nasal cavities of a 35 year-old male. A fourth case involved the skull base of a 47 year-old male and exhibited a fusion of PAX3-NCOA1. A slightly older age were observed in patients with fusion negative tumors.
CONCLUSION: More than half of SNS in this series contain PAX3-MAML3 fusion genes. However, a subset of tumors may harbor alternate PAX3 fusion genes or show no involvement of the PAX3 gene. Except for a possible weak association between age and molecular profile, the overall morphologic and immunophenotypic features of all cases seem similar. Due to the rarity of these tumors, the impact of the molecular profile on the clinical course of these tumors remains to be determined. This article is protected by copyright. All rights reserved.

PMID: 27454570 [PubMed - as supplied by publisher]

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