BAP1 – Inactivated Melanocytoma. Description of the Case and Overview of the Issue

Czech version

Authors: Z. Szép ^1,2; N. Majtánová ³; J. Majtán ^4,5
Authors‘ workplace: Katedra dermatovenerológie LF SZU a výučbové centrá Onkologický ústav sv. Alžbety s. r. o., Bratislava, a Dermatovenerologická klinika LF SZU a FNsP Trnava, vedúci katedry a prednosta kliniky doc. MUDr. Zoltán Szép, PhD., MPH ¹; Unilabs Slovensko, s. r. o., Diagnostické centrum patológie, Bratislava, vedúca oddelenia prim. MUDr. Iveta Mečiarová, PhD. ²; Očná klinika LF SZU a UNB – pracovisko Nemocnica sv. Cyrila a Metoda, Bratislava, prednosta prof. MUDr. Petr Kolář, PhD. ³; Ústav molekulárnej biológie SAV, v. v. i., Bratislava, riaditeľka Ing. Eva Kutejová, DrSc. ⁴; Ústav mikrobiológie LF SZU, Bratislava, prednostka prof. RNDr. Shubhada Bopegamage, CSc. ⁵
Published in: Čes-slov Derm, 99, 2024, No. 3, p. 126-131
Category: Case Reports

Overview

BAP1-inactivated melanocytoma is a rare melanocytic lesion that was first described by Thomas Wiesner in 2011. It belongs to the group of so-called melanocytomas, which represent a group of intermediate melanocytic lesions. It occurs mostly sporadically, but rarely it can be part of the so-called hereditary BAP1 tumor predisposition syndrome. We present the case of a 33-year-old woman with a solitary BAP1-inactivated melanocytoma.

Keywords:

melanocytoma – BAP1 – hereditary BAP1 tumor predisposition syndrome

Sources

ANDEA, A. A. Molecular testing for melanocytic tumors: a practical update. Histopathology, 2022, 80(1), p. 150–165.
CARBONE, M., FERRIS, L. K., BAUMANN, F. et al. BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med, 2012, 10, p. 179.
DONATI, M., MARTINEK, P., STEINER, P. et al. Novel insights into the BAP1-inactivated melanocytic tumor. Mod Pathol, 2022, 35(5), p. 664–675.
ELDER, D. E., BASTIAN, B. C., CREE, I. A., MASSI, D. et al. The 2018 World Health Organization Classification of Cutaneous, Mucosal, and Uveal Melanoma: detailed analysis of 9 distinct subtypes defined by their evolutionary pathway. Arch Pathol Lab Med, 2020, 144(4), p. 500–522.
FERNANDEZ-FLORES, A. Modern Concepts in Melanocytic Tumors. Actas Dermosifiliogr, 2023, 114(5), p. 402–412.
FERRARA, G., MARIANI, M. P., AURIEMMA, M. BAP1-inactivated melanocytic tumour with borderline histopathological features (BAP1-inactivated melanocytoma): A case report and a reappraisal. Australas J Dermatol, 2021, 62(1): e88–e91.
FOUCHARDIERE, A. D. L., BLOKX, W., KEMPEN, L. C. V. et al. ESP, EORTC, and EURACAN Expert Opinion: practical recommendations for the pathological diagnosis and clinical management of intermediate melanocytic tumors and rare related melanoma variants. Virchows Arch, 2021, 479(1), p. 3–11.
LINOS, K., ATKINSON, A. E., YAN, S. et al. A case of molecularly confirmed BAP1 inactivated melanocytic tumor with retention of immunohistochemical expression: a confounding factor. J Cutan Pathol, 2020, 47(5), p. 856–859.
MASOOMIAN, B., SHIELDS, J. A., SHIELDS, C. L. Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma. J Curr Ophthalmol, 2018, 30(2), p. 102–109.
URSO, C. Melanocytic Skin Neoplams: What Lesson From Genomic Abberations? Am J Dermatopathol, 2019, 41(9), p. 623–629.
WHO Classification of Skin Tumours. 4. vyd., WHO, 2018. 500 s. ISBN 978-92-832-2440-2.
WHO Classification of Skin Tumours. 5. vyd., WHO, 2023. Beta version ahead of print.
WIESNER, T., OBENAUF, A. C., MURALI, R. et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet, 2011, 43(10), p. 1018–1021.
YEH, I. Melanocytic nevi, melanocytomas and emerging concepts. Pathology, 2023, 55(2), p. 178–186.
YEH, I. New and evolving concepts of melanocytic nevi and melanocytomas. Mod Pathol, 2020, 33, Suppl.1, p. 1–14.
YEH, I. Update on classification of melanocytic tumors and the role of immunohistochemistry and molecular techniques. Semin Diagn Pathol, 2022, 39(4), p. 248–256.
ZHANG, A. J., RUSH, P. S., TSAO, H. et al. BRCA1-associated protein (BAP1)-inactivated melanocytic tumors. J Cutan Pathol, 2019, 46(12), p. 965–972.

Do redakce došlo dne 6. 11. 2023.

Adresa pro korespondenci:
doc. MUDr. Zoltán Szép, PhD, MPH
Onkologický ústav sv. Alžbety
Heydukova 10
812 50 Bratislava
Slovenská republika
e-mail: zoltan.szep@ousa.sk

Labels

Dermatology & STDs Paediatric dermatology & STDs

Hereditary Angioedema – Classification and Differential Diagnosis

Nail Changes Lasting 30 Years

CZECH AND SLOVAK DERMATOLOGY AND VENEREOLOGY

PERSONAL ANNOUNCEMENTS

FORTHCOMING EVENTS

Article was published in

Czech-Slovak Dermatology

2024 Issue 3