One step at a time: Melanocytic differentiation in fusion-driven cutaneous neoplasms.


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:
Dec 2023
Historique:
revised: 16 06 2023
received: 10 05 2023
accepted: 26 09 2023
medline: 10 11 2023
pubmed: 17 10 2023
entrez: 16 10 2023
Statut: ppublish

Résumé

As dermatopathologists, we routinely diagnose melanocytic nevi, melanomas, and occasionally melanocytomas in our daily clinical practice. However, it is now clearly established that the presence of melanocytic differentiation in a tumor does not necessarily indicate any of the aforementioned diagnoses. Tumors such as clear cell sarcoma, malignant melanotic nerve sheath tumor, PEComa, melanotic neuroectodermic tumor of infancy, and even certain translocation-associated renal cell carcinomas all share the common characteristic of melanin synthesis. Over the past two decades, with the advent of molecular diagnostics, there has been an explosion of new data and discoveries in this field. Examples such as CRTC1::TRIM11 cutaneous tumors and MITF pathway-activated melanocytic tumors (ACTIN::MITF and MITF::CREM) have been incorporated into the latest edition of the WHO classification of skin tumors (5th ed). In a recent issue, Alexandrescu et al. reported another case of a dermal/subcutaneous melanocytic tumor harboring a MITF::CREM1 translocation. In a separate paper within the current issue, Li et al. present a case of clear cell sarcoma with the rare EWSR1::CREM fusion, which had initially been misdiagnosed as melanoma with regional and distant metastases. We warmly welcome these two very interesting and high-quality articles to our journal, and we eagerly anticipate what the future holds for this fascinating category of tumors.

Identifiants

pubmed: 37844955
doi: 10.1111/cup.14543
doi:

Substances chimiques

Biomarkers, Tumor 0
TRIM11 protein, human EC 2.3.2.27
Tripartite Motif Proteins 0
Ubiquitin-Protein Ligases EC 2.3.2.27

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1116-1118

Informations de copyright

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

Références

Enzinger FM. Clear-cell sarcoma of tendons and aponeuroses. An analysis of 21 cases. Cancer. 1965;18:1163-1174.
Segal NH, Pavlidis P, Noble WS, et al. Classification of clear-cell sarcoma as a subtype of melanoma by genomic profiling. J Clin Oncol. 2003;21(9):1775-1781.
Dermawan JK, Vanoli F, Herviou L, et al. Comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovers prognostically significant recurrent genetic alterations and methylation-transcriptional correlates. Mod Pathol. 2022;35(8):1055-1065.
Cellier L, Perron E, Pissaloux D, et al. Cutaneous melanocytoma with CRTC1-TRIM11 fusion: report of 5 cases resembling clear cell sarcoma. Am J Surg Pathol. 2018;42(3):382-391.
Hanna J, Ko JS, Billings SD, et al. Cutaneous melanocytic tumor with CRTC1::TRIM11 translocation: an emerging entity analyzed in a series of 41 cases. Am J Surg Pathol. 2022;46(11):1457-1466.
de la Fourchardière A, Pissaloux D, Tirode F, Karanian M, Fletcher CDM, Hanna J. Clear cell tumor with melanocytic differentiation and ACTIN-MITF translocation: report of 7 cases of a novel entity. Am J Surg Pathol. 2021;45(7):962-968.
de la Fourchardière A, Pissaloux D, Tirode F, Hanna J. Clear cell tumor with melanocytic differentiation and MITF-CREM translocation: a novel entity similar to clear cell sarcoma. Virchows Arch. 2021;479(4):841-846.
Alexandrescu S, Imamovic-Tuco A, Janeway K, Hanna J. Clear cell tumor with melanocytic differentiation and MITF::CREM translocation. J Cutan Pathol. 2023;50(7):619-622.
Li P, Busam K. Compound clear cell sarcoma with EWSR1::CREM fusion. J Cutan Pathol. 2023. doi:10.1111/cup.14390
Raghavan SS, Wang JY, Toland A, et al. Diffuse PRAME expression is highly specific for malignant melanoma in the distinction from clear cell sarcoma. J Cutan Pathol. 2020;47(12):1226-1228.
Schaefer KL, Brachwitz K, Wai DH, et al. Expression profiling of t(12;22) positive clear cell sarcoma of soft tissue cell lines reveals characteristic up-regulation of potential new marker genes including ERBB3. Cancer Res. 2004;64(10):3395-3405.
Deyrup AT, Althof P, Zhou M, et al. Paraganglioma-like dermal melanocytic tumor: a unique entity distinct from cellular blue nevus, clear cell sarcoma, and cutaneous melanoma. Am J Surg Pathol. 2004;28(12):1579-1586.

Auteurs

Konstantinos Linos (K)

Department of Pathology & Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

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Classifications MeSH