University of Michigan Medical School, Ann Arbor, MI USA.
Johns Hopkins Bloomberg School of Public Health, Baltimore, MD USA.
J Natl Med Assoc. 2022 Feb;114(1):7-11. doi: 10.1016/j.jnma.2021.08.034. Epub 2021 Sep 9.
Acral lentiginous melanoma (ALM) is an aggressive subtype of cutaneous malignant melanomas that accounts for 50-80% of melanomas in ethnic minorities. Studies on the genetic profile of these tumors largely result from cohorts in Europe, Asia, and Latin America, few inclusive of Black patients.
We aim to describe the clinicopathological and genetic characteristics in a diverse cohort of ALM patients.
A retrospective analysis of 93 patients with a pathology confirmed diagnosis of ALM between March 1984 and October 2020 was conducted at a large tertiary care center. Melanoma mutation panel testing for frequently mutated regions of the BRAF, NRAS, KIT and PIK3CA genes were reviewed in patient records when available.
Of the 93 patients identified, 62.4% were Caucasian, 25.8% Black, 4.30% Hispanic, 4.30% Asian, and 3.22% identified as other. Fourteen of 17 patients receiving targeted or immunologic agents experienced disease progression during treatment, including all patients with a BRAF V600E mutation.
This was a single-center retrospective analysis.
Response to targeted and immunologic therapies in ALM patients was overwhelming poor, particularly in BRAF V600E-mutated tumors in contrast to the positive prognosis associated with BRAF V600E mutations in other advanced cutaneous melanoma subtypes.
肢端雀斑样黑素瘤（ALM）是一种侵袭性皮肤恶性黑素瘤亚型，占少数族裔人群黑素瘤的 50-80%。这些肿瘤的遗传特征研究主要来自欧洲、亚洲和拉丁美洲的队列，很少包括黑人患者。
我们旨在描述不同族裔 ALM 患者的临床病理和遗传特征。
对 1984 年 3 月至 2020 年 10 月期间在一家大型三级保健中心接受病理学证实的 ALM 诊断的 93 例患者进行回顾性分析。当患者病历中有记录时，回顾分析 BRAF、NRAS、KIT 和 PIK3CA 基因中经常发生突变的区域的黑色素瘤突变面板检测结果。
在 93 例患者中，62.4%为白种人，25.8%为黑人，4.30%为西班牙裔，4.30%为亚洲人，3.22%为其他。17 名接受靶向或免疫治疗的患者中有 14 名在治疗过程中出现疾病进展，包括所有携带 BRAF V600E 突变的患者。
这是一项单中心回顾性分析。
与其他晚期皮肤黑色素瘤亚型中 BRAF V600E 突变相关的积极预后相反，ALM 患者对靶向和免疫治疗的反应极差，特别是在 BRAF V600E 突变的肿瘤中。
