一名黑色素细胞病变患者意外发现 PTPN11 基因突变,且伴有体细胞 MAP2K1 突变。是否巧合?

IF 1.6 4区 医学 Q3 DERMATOLOGY
Sven van der Woude, J. S. Klein Wassink-Ruiter, Joost Kluiver, Marthe de Jonge, Gilles F. H. Diercks
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引用次数: 0

摘要

黑色素细胞肿瘤是一类多种多样的病变,传统上根据临床表现和组织学检查综合进行分类。最近,分子诊断已成为目前世卫组织标准中区分不同黑色素细胞病变的一个日益重要的部分。然而,这种分子检测可能会导致意想不到的结果。在本报告中,我们描述了对临床非典型黑色素细胞病变的分子检测结果,结果显示 MAP2K1 基因发生了突变,而且 PTPN11 基因也发生了意想不到的种系突变,这表明该患者患有努南综合征。根据这些结果,我们得出结论,患者患有与 MAP2K1 相关的黑色素细胞病变,而努南综合征只是偶然发现。黑色素瘤通常与努南综合征无关。然而,我们假设 PTPN11 基因的种系突变和 MAP2K1 基因的体细胞二次突变可能与上述病变的形成有关。因为它们都是 RAS-MAPK 通路的一部分。此外,随着黑色素瘤分子诊断技术的发展,我们预计意外(种系)突变会越来越多。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

An Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not?

An Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not?

Melanocytic tumors are a diverse group of lesions and are traditionally classified based on a combination of clinical presentation as well as histological examination. More recently, molecular diagnostics has become an increasingly important part of differentiating different melanocytic lesions in the current WHO standards. This molecular testing, however, can result in unexpected findings. In this report, we describe that molecular testing of a clinical atypical melanocytic lesion showed a mutation in the MAP2K1 gene as well as an unexpected germline mutation in PTPN11, indicative of Noonan syndrome. Based on these findings we concluded that the patient had a MAP2K1 associated melanocytic lesion with Noonan syndrome as an incidental finding. Melanomas are classically not associated with Noonan syndrome. However, we hypothesized that the germline mutations of PTPN11 and the somatic second hit mutation in the MAP2K1 genes might be involved in the formation of the aforementioned lesion. As they are both part of the RAS-MAPK pathway. Furthermore, with the expansion of molecular diagnostics in melanomas, we expect to find an increase in unexpected (germline) mutations.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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