EWSR1-SMAD3-rearranged Fibroblastic Tumor An Emerging Entity in an Increasingly More Complex Group of Fibroblastic/Myofibroblastic Neoplasms

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10381710" target="_blank" >RIV/00216208:11110/18:10381710 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11140/18:10381710

Result on the web

<a href="https://doi.org/10.1097/PAS.0000000000001109" target="_blank" >https://doi.org/10.1097/PAS.0000000000001109</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/PAS.0000000000001109" target="_blank" >10.1097/PAS.0000000000001109</a>

Result language

angličtina

Original language name

EWSR1-SMAD3-rearranged Fibroblastic Tumor An Emerging Entity in an Increasingly More Complex Group of Fibroblastic/Myofibroblastic Neoplasms

Original language description

Three cases of superficial acral fibroblastic spindle cell neoplasms with EWSR1-SMAD3 fusion have been recently reported. Their differential diagnosis is broad, primarily comprising rare tumors from the fibroblastic/myofibroblastic category. The aim of this report is to present 4 new cases of this entity and to discuss the appropriate differential diagnosis. Also, as the ERG antibody seems to be a characteristic marker for these tumors, we analyzed ERG immunostaining characteristics in potential mimics of this entity. All cases in our cohort occurred in women aged 5 to 68 years (mean, 36.5 y). Two were located on the hand, 1 on foot, and the last case arose on the calf. The tumor size ranged from 1 to 1.5 cm in the greatest dimension, with a mean size of 1.2 cm. Except for one recent case, follow-up was available, ranging from 7 to 18 years (mean, 11.7 y), with a recurrence noted in 1 case after 10 years. All tumors were subcutaneous and showed 2 main components. One consisted of bland, spindled cells with elongated nuclei which were round when observed on the cross-section. These cells mostly grew in relatively hypercellular, well-organized, and intersecting fascicles. The second component was prominently hyalinized and paucicellular, but lacked calcifications. Both components showed either a distinct zonation pattern, or they were randomly intermingled with each other. In all 3 analyzable tumors, next-generation sequencing showed EWSR1-SMAD3 gene fusion in each case. By fluorescence in situ hybridization, one tested case also revealed unbalanced rearrangement of the EWSR1 gene. All 4 cases showed strong, diffuse nuclear expression of ERG, whereas none of the mimics stained with this antibody except for weak to moderate staining in calcifying aponeurotic fibromas (9/10 cases). Two tumors showed focal weak to moderate expression of SAT-B2. The 4 herein presented cases further broaden the clinicopathologic spectrum of tumors with EWSR1-SMAD3 gene fusion. They also confirm that they represent a novel entity for which we propose the name EWSR1-SMAD3-rearranged fibroblastic Tumor. Our study also proves that in the context of fibroblastic/myofibroblastic tumors, ERG immunohistochemistry is a relatively specific marker for these neoplasms.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30109 - Pathology

Project

<a href="/en/project/LO1503" target="_blank" >LO1503: BIOMEDIC</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

The American Journal of Surgical Pathology

ISSN

0147-5185

e-ISSN

—

Volume of the periodical

42

Issue of the periodical within the volume

10

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

1325-1333

UT code for WoS article

000445858300006

EID of the result in the Scopus database

2-s2.0-85049159988