Cutaneous myoepithelioma with EWSR1 gene rearrangement and its differentials: A diagnostic challenge.


Journal

Journal of cutaneous pathology
ISSN: 1600-0560
Titre abrégé: J Cutan Pathol
Pays: United States
ID NLM: 0425124

Informations de publication

Date de publication:
Jul 2023
Historique:
revised: 08 03 2023
received: 22 11 2022
accepted: 23 03 2023
medline: 14 6 2023
pubmed: 15 4 2023
entrez: 14 4 2023
Statut: ppublish

Résumé

Cutaneous myoepithelioma is a rare benign soft tissue neoplasm of myoepithelial cells involving the skin and subcutis. These tumors can be diagnostically challenging. The plasticity of myoepithelial cells leads to wide variability in the cytomorphology, immunophenotype, and genetic features of myoepithelioma. Their protean presentations may mimic malignant neoplasms. Therefore, distinction from malignancy is essential. Herein, we report a case of cutaneous myoepithelioma presenting similarly to Ewing sarcoma, with small round blue cells and an EWSR1 rearrangement. Our case highlights the important morphologic, immunohistochemical, and cytogenetic features of this benign basaloid cutaneous tumor.

Identifiants

pubmed: 37057381
doi: 10.1111/cup.14433
doi:

Substances chimiques

Biomarkers, Tumor 0
RNA-Binding Protein EWS 0
EWSR1 protein, human 0

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

632-636

Informations de copyright

© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Références

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Boland JM, Folpe AL. Cutaneous neoplasms showing EWSR1 rearrangement. Adv Anat Pathol. 2013;20(2):75-85. doi:10.1097/PAP.0B013E31828625BF
Hornick JL, Fletcher CDM. Cutaneous myoepithelioma: a clinicopathologic and immunohistochemical study of 14 cases. Hum Pathol. 2004;35(1):14-24. doi:10.1016/j.humpath.2003.08.016
Mentzel T, Requena L, Kaddu S, Soares de Aleida LM, Sangueza OP, Kutzner H. Cutaneous myoepithelial neoplasms: clinicopathologic and immunohistochemical study of 20 cases suggesting a continuous spectrum ranging from benign mixed tumor of the skin to cutaneous myoepithelioma and myoepithelial carcinoma. J Cutan Pathol. 2003;30(5):294-302. doi:10.1034/j.1600-0560.2003.00063.x
Evangelou Z, Zhang L, Tafe LJ, Azzouz L, Grada Z, Linos K. Primary cutaneous Ewing sarcoma with diffuse S100/SOX10 positivity and pseudoalveolar pattern: an extraordinarily rare case highlighting a potential pitfall with significant repercussions. J Cutan Pathol. 2021;48(2):302-308. doi:10.1111/CUP.13788
Jo VY. EWSR1 fusions: Ewing sarcoma and beyond. Cancer Cytopathol. 2020;128(4):229-231. doi:10.1002/CNCY.22239
Brandal P, Panagopoulos I, Bjerkehagen B, et al. Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma. Genes Chromosomes Cancer. 2008;47(7):558-564. doi:10.1002/gcc.20559
Fisher C. The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review. Histopathology. 2014;64(1):134-150. doi:10.1111/his.12269
Flucke U, Palmedo G, Blankenhorn N, Slootweg PJ, Kutzner H, Mentzel T. EWSR1 gene rearrangement occurs in a subset of cutaneous myoepithelial tumors: a study of 18 cases. Mod Pathol. 2011;24(11):1444-1450. doi:10.1038/modpathol.2011.108
Jo VY. Myoepithelial tumors: an update. Surg Pathol Clin. 2015;8(3):445-466. doi:10.1016/j.path.2015.05.005
Miettinen M, McCue PA, Sarlomo-Rikala M, et al. SOX10-a marker for not only schwannian and melanocytic neoplasms but also myoepithelial cell tumors of soft tissue: a systematic analysis of 5134 tumors. Am J Surg Pathol. 2015;39(6):826-835. doi:10.1097/PAS.0000000000000398
Parra O, Thuraisingam R, Baker ML, Kerr DA, Linos K. Adding perplexity to rarity: diffuse S100-protein and SOX10 expression in a molecularly confirmed PAX7-positive primary cutaneous Ewing sarcoma. Am J Dermatopathol. 2021;43(12):984-989. doi:10.1097/DAD.0000000000002000

Auteurs

Chiamaka L Okorie (CL)

Geisel School of Medicine at Dartmouth College, Lebanon, New Hampshire, USA.

Shaofeng Yan (S)

Geisel School of Medicine at Dartmouth College, Lebanon, New Hampshire, USA.
Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.

Darcy A Kerr (DA)

Geisel School of Medicine at Dartmouth College, Lebanon, New Hampshire, USA.
Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.

Laura J Tafe (LJ)

Geisel School of Medicine at Dartmouth College, Lebanon, New Hampshire, USA.
Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.

Aravindhan Sriharan (A)

Geisel School of Medicine at Dartmouth College, Lebanon, New Hampshire, USA.
Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.

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Classifications MeSH