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Open Access 01-12-2017 | Case report

Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy

Authors: Timothy M. Hoggard, Evita Henderson-Jackson, Marilyn M. Bui, Jamie Caracciolo, Jamie K. Teer, Sean Yoder, Odion Binitie, Ricardo J. Gonzalez, Andrew S. Brohl, Damon R. Reed

Published in: BMC Cancer | Issue 1/2017

Abstract

Background

Myoepithelial carcinoma of soft tissue is a rare, malignant neoplasm that is morphologically and immunophenotypically similar to its counterpart in salivary gland. It demonstrates myoepithelial differentiation, possessing both epithelial and myogenic characteristics. Thought to be chemotherapy insensitive, the optimal treatment regimen of this tumor has yet to be established and only a select few cases in the literature discuss treatment efficacy in detail.

Case presentation

Here we present a case of a young adult with metastatic myoepithelial carcinoma with an initial excellent response to systemic therapy utilizing carboplatin and paclitaxel with continued complete response after 3 years. The patient also underwent complete surgical excision and received adjuvant radiation to the primary site of disease. Exome sequencing revealed an inactivating mutation in RB1 which we believe to be the first such mutation to be reported in this cancer type.

Conclusions

Given increasing evidence suggesting RB1 loss is associated with responsiveness to conventional chemotherapies, particularly platinum-based regimens, we hypothesize that this genetic feature predisposed chemosensitivity in our patient’s tumor.

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Title: Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy
Authors: Timothy M. Hoggard
Evita Henderson-Jackson
Marilyn M. Bui
Jamie Caracciolo
Jamie K. Teer
Sean Yoder
Odion Binitie
Ricardo J. Gonzalez
Andrew S. Brohl
Damon R. Reed
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: BMC Cancer / Issue 1/2017
Electronic ISSN: 1471-2407
DOI: https://doi.org/10.1186/s12885-017-3249-x

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