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Comparative Whole-Genome Sequencing Analysis of In-situ and Invasive Acral Lentiginous Melanoma: Markedly Increased Copy Number Gains of GAB2 , PAK1 , UCP2 , and CCND1 are Associated with Melanoma Invasion.
Park, Hyung Keon; Choi, Yoo Duk; Shim, Hyun Jeong; Choi, Yoonjoo; Chung, Ik Joo; Yun, Sook Jung.
Afiliación
  • Park HK; Departments of Dermatology.
  • Choi YD; Pathology.
  • Shim HJ; Internal medicine, Division of Hemato-Oncology, Chonnam National University Medical School, Gwangju.
  • Choi Y; Combinatorial Tumor Immunotherapy MRC, Chonnam National University Medical School, Hwasun-gun, Jeonnam, Korea.
  • Chung IJ; Internal medicine, Division of Hemato-Oncology, Chonnam National University Medical School, Gwangju.
  • Yun SJ; Departments of Dermatology.
Am J Surg Pathol ; 48(9): 1061-1071, 2024 Sep 01.
Article en En | MEDLINE | ID: mdl-38916228
ABSTRACT
Acral lentiginous melanoma (ALM) is the most common subtype of acral melanoma. Even though recent genetic studies are reported in acral melanomas, the genetic differences between in-situ and invasive ALM remain unclear. We aimed to analyze specific genetic changes in ALM and compare genetic differences between in-situ and invasive lesions to identify genetic changes associated with the pathogenesis and progression of ALM. We performed whole genome sequencing of 71 tissue samples from 29 patients with ALM. Comparative analyses were performed, pairing in-situ ALMs with normal tissues and, furthermore, invasive ALMs with normal and in-situ tissues. Among 21 patients with in-situ ALMs, 3 patients (14.3%) had SMIM14 , SLC9B1 , FRG1 , FAM205A , ESRRA , and ESPN mutations, and copy number (CN) gains were identified in only 2 patients (9.5%). Comparing 13 invasive ALMs with in-situ tissues, CN gains were identified in GAB2 in 8 patients (61.5%), PAK1 in 6 patients (46.2%), and UCP2 and CCND1 in 5 patients (38.5%). Structural variants were frequent in in-situ and invasive ALM lesions. Both in-situ and invasive ALMs had very low frequencies of common driver mutations. Structural variants were common in both in-situ and invasive ALMs. Invasive ALMs had markedly increased CN gains, such as GAB2 , PAK1 , UCP2 , and CCND1 , compared with in-situ lesions. These results suggest that they are associated with melanoma invasion.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Biomarcadores de Tumor / Ciclina D1 / Quinasas p21 Activadas / Variaciones en el Número de Copia de ADN / Secuenciación Completa del Genoma / Melanoma / Invasividad Neoplásica Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Surg Pathol Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Biomarcadores de Tumor / Ciclina D1 / Quinasas p21 Activadas / Variaciones en el Número de Copia de ADN / Secuenciación Completa del Genoma / Melanoma / Invasividad Neoplásica Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Surg Pathol Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos