Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1783495495165935616 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7008573 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT chenzhenwei primarypulmonarymyxoidsarcomawithewsr1creb1fusionacasereportandreviewoftheliterature AT yangyihui primarypulmonarymyxoidsarcomawithewsr1creb1fusionacasereportandreviewoftheliterature AT chenrongming primarypulmonarymyxoidsarcomawithewsr1creb1fusionacasereportandreviewoftheliterature AT ngchising primarypulmonarymyxoidsarcomawithewsr1creb1fusionacasereportandreviewoftheliterature AT shihongqi primarypulmonarymyxoidsarcomawithewsr1creb1fusionacasereportandreviewoftheliterature |