A spectrum of BAP1 expression from naevus to melanoma in a patient with BAP1 tumour predisposition syndrome

被引：1

作者：

Ogura, Yasuaki ^{[1
]}

Shimauchi, Takatoshi ^{[1
]}

Sugiyama, Tomoko ^{[1
]}

Sugimura, Yuki ^{[2
]}

Nakagawa, Masahiro ^{[2
]}

Osawa, Harumo ^{[3
]}

Kojima, Risa ^{[3
]}

Iwaizumi, Moriya ^{[3
]}

Honda, Tetsuya ^{[1
]}

机构：

[1] Hamamatsu Univ, Sch Med, Dept Dermatol, Hamamatsu, Japan

[2] Hamamatsu Univ, Sch Med, Dept Plast & Reconstruct Surg, Hamamatsu, Japan

[3] Hamamatsu Univ, Clin & Mol Genet Ctr, Sch Med, Hamamatsu, Japan

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2025年 / 50卷 / 06期

关键词：

FAMILIES;

D O I：

10.1093/ced/llaf004

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

BAP1 tumour predisposition syndrome (BAP1-TPDS) is a rare autosomal dominant disorder characterized by germline loss-of-function mutations in the BAP1 tumour suppressor gene, and patients with BAP1-TPDS are at an increased risk of developing various tumours, including melanoma. We report a case of melanoma on the scalp in a patient with BAP1-TPDS. Based on the BAP1 expression pattern and cell morphology, we identified four distinct melanocytic populations within the lesion. We believe these findings provide us with important clues to understand the developmental mechanism of melanoma arising from naevi following a BAP1 mutation.

引用

页码：1236 / 1238

页数：3

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