Cargando…
EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review
EWSR1::SMAD3-rearranged fibroblastic tumor is a recently described entity that mostly occurs in acral locations. Only 15 cases have been reported in the English literature, with a wide age range and marked female predominance. The most common sites are the foot, followed by the hand and the distal l...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9798226/ https://www.ncbi.nlm.nih.gov/pubmed/36591513 http://dx.doi.org/10.3389/fonc.2022.1017310 |
_version_ | 1784860862897455104 |
---|---|
author | Yang, Li Fan, Linni Yin, Zhiyong Liu, Yixiong Zhao, Danhui Wang, Zhe Cheng, Hong |
author_facet | Yang, Li Fan, Linni Yin, Zhiyong Liu, Yixiong Zhao, Danhui Wang, Zhe Cheng, Hong |
author_sort | Yang, Li |
collection | PubMed |
description | EWSR1::SMAD3-rearranged fibroblastic tumor is a recently described entity that mostly occurs in acral locations. Only 15 cases have been reported in the English literature, with a wide age range and marked female predominance. The most common sites are the foot, followed by the hand and the distal lower leg. There are four cases that recurred locally during 5–120 months of follow-up, with no metastases to date. Herein, we presented a case of EWSR1::SMAD3-rearranged fibroblastic tumor that recurred twice in a 20-year-old man. The patient presented with a second recurrent painful nodule in the left plantar of the second toe. Grossly, the lesion was pale solid and well-defined, measuring 9 × 8 × 9 mm in size. Histological examination revealed a monomorphic spindle cell tumor composed of cellular fascicles of bland fibroblasts in a collagenous to myxoid stroma with low mitotic activity, which evoked a wide spectrum of differential diagnoses. Immunohistochemically, the tumor cells were diffusely and strongly positive for ERG while negative for S100, α-SMA, CD34, and other vascular markers. An unbalanced rearrangement of EWSR1 was demonstrated by fluorescence in situ hybridization (FISH), and a gene fusion between EWSR1 exon 7 and SMAD3 exon 6 was confirmed by RT-PCR and Sanger sequencing. This case recurred twice within 6 years with no sign of further relapse and metastasis at another 9-month follow-up since the last surgery, indicating that this tumor was benign but prone to local recurrence. Nevertheless, more cases and further studies are needed to better interpret the biological behavior of this new entity. |
format | Online Article Text |
id | pubmed-9798226 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-97982262022-12-30 EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review Yang, Li Fan, Linni Yin, Zhiyong Liu, Yixiong Zhao, Danhui Wang, Zhe Cheng, Hong Front Oncol Oncology EWSR1::SMAD3-rearranged fibroblastic tumor is a recently described entity that mostly occurs in acral locations. Only 15 cases have been reported in the English literature, with a wide age range and marked female predominance. The most common sites are the foot, followed by the hand and the distal lower leg. There are four cases that recurred locally during 5–120 months of follow-up, with no metastases to date. Herein, we presented a case of EWSR1::SMAD3-rearranged fibroblastic tumor that recurred twice in a 20-year-old man. The patient presented with a second recurrent painful nodule in the left plantar of the second toe. Grossly, the lesion was pale solid and well-defined, measuring 9 × 8 × 9 mm in size. Histological examination revealed a monomorphic spindle cell tumor composed of cellular fascicles of bland fibroblasts in a collagenous to myxoid stroma with low mitotic activity, which evoked a wide spectrum of differential diagnoses. Immunohistochemically, the tumor cells were diffusely and strongly positive for ERG while negative for S100, α-SMA, CD34, and other vascular markers. An unbalanced rearrangement of EWSR1 was demonstrated by fluorescence in situ hybridization (FISH), and a gene fusion between EWSR1 exon 7 and SMAD3 exon 6 was confirmed by RT-PCR and Sanger sequencing. This case recurred twice within 6 years with no sign of further relapse and metastasis at another 9-month follow-up since the last surgery, indicating that this tumor was benign but prone to local recurrence. Nevertheless, more cases and further studies are needed to better interpret the biological behavior of this new entity. Frontiers Media S.A. 2022-12-15 /pmc/articles/PMC9798226/ /pubmed/36591513 http://dx.doi.org/10.3389/fonc.2022.1017310 Text en Copyright © 2022 Yang, Fan, Yin, Liu, Zhao, Wang and Cheng https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Yang, Li Fan, Linni Yin, Zhiyong Liu, Yixiong Zhao, Danhui Wang, Zhe Cheng, Hong EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review |
title |
EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review |
title_full |
EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review |
title_fullStr |
EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review |
title_full_unstemmed |
EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review |
title_short |
EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review |
title_sort | ewsr1::smad3-rearranged fibroblastic tumor: a case with twice recurrence and literature review |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9798226/ https://www.ncbi.nlm.nih.gov/pubmed/36591513 http://dx.doi.org/10.3389/fonc.2022.1017310 |
work_keys_str_mv | AT yangli ewsr1smad3rearrangedfibroblastictumoracasewithtwicerecurrenceandliteraturereview AT fanlinni ewsr1smad3rearrangedfibroblastictumoracasewithtwicerecurrenceandliteraturereview AT yinzhiyong ewsr1smad3rearrangedfibroblastictumoracasewithtwicerecurrenceandliteraturereview AT liuyixiong ewsr1smad3rearrangedfibroblastictumoracasewithtwicerecurrenceandliteraturereview AT zhaodanhui ewsr1smad3rearrangedfibroblastictumoracasewithtwicerecurrenceandliteraturereview AT wangzhe ewsr1smad3rearrangedfibroblastictumoracasewithtwicerecurrenceandliteraturereview AT chenghong ewsr1smad3rearrangedfibroblastictumoracasewithtwicerecurrenceandliteraturereview |