Department of Dermatology, Université d'Auvergne, CHU, Clermont-Ferrand, France.
Dermatology. 2012;225(2):168-71. doi: 10.1159/000342506. Epub 2012 Oct 24.
Desmoplastic malignant melanoma (DM) is a rare variant of melanoma. BRAF gene mutations have been poorly explored in this entity.
To detect BRAF gene mutation in a series of DM.
This is a single-center retrospective study of ten patients with DM, with a biomolecular analysis of BRAF mutation.
The male:female ratio was 2.3:1, with a mean patient age of 66.5 years. Melanoma arose in the head and neck region in 3 cases. The mean tumor thickness was 7.97 mm, Clark level was IV or V in all cases. Six melanomas were of the pure DM variant. Three patients had at least one local recurrence, two had regional node metastases, and two experienced systemic metastases which they died of (average follow-up 34.1 months). A V600E BRAF mutation was detected in only one patient.
BRAF mutation seems to be a rare event in DM contrary to other melanoma variants.
促结缔组织增生性恶性黑色素瘤（DM）是一种罕见的黑色素瘤变异型。BRAF 基因突变在这种实体瘤中研究甚少。
检测一系列 DM 中的 BRAF 基因突变。
这是一项单中心回顾性研究，纳入了 10 名 DM 患者，对 BRAF 突变进行了生物分子分析。
男女比例为 2.3:1，患者平均年龄为 66.5 岁。3 例黑色素瘤发生于头颈部。平均肿瘤厚度为 7.97mm，所有病例均为 Clark 分级 IV 或 V。6 例为纯 DM 变异型。3 例至少有 1 次局部复发，2 例发生区域淋巴结转移，2 例发生全身转移并死亡（平均随访 34.1 个月）。仅 1 例患者检测到 V600E BRAF 突变。
与其他黑色素瘤变异型相比，DM 中 BRAF 突变似乎是罕见事件。
