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Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature

BACKGROUND: Primary pulmonary myxoid sarcoma (PPMS) is an extremely rare lung sarcoma that is characterized in most cases by recurrent balanced chromosomal translocation t(2;22)(q33;q12) leading to the oncogenic fusion gene EWSR1-CREB1. CASE PRESENTATION: We report a case of PPMS with molecular conf...

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Autores principales: Chen, Zhenwei, Yang, Yihui, Chen, Rongming, Ng, Chi Sing, Shi, Hongqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008573/
https://www.ncbi.nlm.nih.gov/pubmed/32039736
http://dx.doi.org/10.1186/s13000-020-00930-2
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author Chen, Zhenwei
Yang, Yihui
Chen, Rongming
Ng, Chi Sing
Shi, Hongqi
author_facet Chen, Zhenwei
Yang, Yihui
Chen, Rongming
Ng, Chi Sing
Shi, Hongqi
author_sort Chen, Zhenwei
collection PubMed
description BACKGROUND: Primary pulmonary myxoid sarcoma (PPMS) is an extremely rare lung sarcoma that is characterized in most cases by recurrent balanced chromosomal translocation t(2;22)(q33;q12) leading to the oncogenic fusion gene EWSR1-CREB1. CASE PRESENTATION: We report a case of PPMS with molecular confirmation using fluorescence in situ hybridization (FISH) and DNA sequencing in a 45-year-old female patient. Computer tomography (CT) scanning revealed a peripheral circumscribed solid mass of 2.1 × 2 cm in the right lung superior lobe. Histologically, the tumor cells ranged from stellate, polygonal to chondrocyte-like or physaliferous-like, forming reticular network of delicate lace-like cellular strands and cords in abundant myxoid stroma. The tumor cell immunophenotype was positive for vimentin, EMA and negative for CK-pan, TTF-1, CAM5.2, S-100, calponin, SMA, desmin, ALK, CD31 and CD34. Molecular analysis demonstrated EWSR1-CREB1 gene fusion in this tumor. During 38 months of follow-up, the patient was alive with no clinical or radiological evidence of recurrence or metastasis. CONCLUSION: PPMS is a rare low-grade sarcoma with distinct histological and genetic features. We add another case to the literature of this rare tumor and report for the first time occurrence of chondrocyte-like and physaliferous-like tumor cells in this tumor, thus enriching its morphologic and cytologic spectrum.
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spelling pubmed-70085732020-02-13 Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature Chen, Zhenwei Yang, Yihui Chen, Rongming Ng, Chi Sing Shi, Hongqi Diagn Pathol Case Report BACKGROUND: Primary pulmonary myxoid sarcoma (PPMS) is an extremely rare lung sarcoma that is characterized in most cases by recurrent balanced chromosomal translocation t(2;22)(q33;q12) leading to the oncogenic fusion gene EWSR1-CREB1. CASE PRESENTATION: We report a case of PPMS with molecular confirmation using fluorescence in situ hybridization (FISH) and DNA sequencing in a 45-year-old female patient. Computer tomography (CT) scanning revealed a peripheral circumscribed solid mass of 2.1 × 2 cm in the right lung superior lobe. Histologically, the tumor cells ranged from stellate, polygonal to chondrocyte-like or physaliferous-like, forming reticular network of delicate lace-like cellular strands and cords in abundant myxoid stroma. The tumor cell immunophenotype was positive for vimentin, EMA and negative for CK-pan, TTF-1, CAM5.2, S-100, calponin, SMA, desmin, ALK, CD31 and CD34. Molecular analysis demonstrated EWSR1-CREB1 gene fusion in this tumor. During 38 months of follow-up, the patient was alive with no clinical or radiological evidence of recurrence or metastasis. CONCLUSION: PPMS is a rare low-grade sarcoma with distinct histological and genetic features. We add another case to the literature of this rare tumor and report for the first time occurrence of chondrocyte-like and physaliferous-like tumor cells in this tumor, thus enriching its morphologic and cytologic spectrum. BioMed Central 2020-02-10 /pmc/articles/PMC7008573/ /pubmed/32039736 http://dx.doi.org/10.1186/s13000-020-00930-2 Text en © The Author(s) 2020 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Chen, Zhenwei
Yang, Yihui
Chen, Rongming
Ng, Chi Sing
Shi, Hongqi
Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature
title Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature
title_full Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature
title_fullStr Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature
title_full_unstemmed Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature
title_short Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a case report and review of the literature
title_sort primary pulmonary myxoid sarcoma with ewsr1-creb1 fusion: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008573/
https://www.ncbi.nlm.nih.gov/pubmed/32039736
http://dx.doi.org/10.1186/s13000-020-00930-2
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