Mutational profile of the KIT gene and its heterogeneity in primary and metastatic melanomas.

IF 1.6 4区 医学 Q3 DERMATOLOGY
Jesús José André Quintana Castillo, Gilles Landman, Mariana Fernandes, Denise Barcelos
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引用次数: 0

Abstract

Background: This study investigates the mutational profile of the KIT gene in primary and metastatic melanomas, highlighting the significance of genetic heterogeneity.

Methods: This research is a retrospective cohort that includes formalin-fixed and paraffin-embedded melanoma samples obtained from Hospital São Paulo, Brazil, between the years of 1996 and 2010. The research encompasses primary melanomas of the superficial spreading (SSM) and acral lentiginous (AL) subtypes and their metastases, using next-generation sequencing to explore genetic heterogeneity.

Results: Despite losing 57 samples due to quality issues, 27 samples from 20 patients were analyzed, revealing a nearly equal distribution between AL and SSM subtypes. Both histological subtypes revealed KIT gene variants, including previously undescribed variants and polymorphisms, emphasizing the role of such mutations in melanoma pathogenesis and the potential for targeted therapies. Tumor heterogeneity was also observed in both histological subtypes.

Conclusions: The study underscores the complexity of melanoma, driven by diverse mutational landscapes within and across tumors and advocates for personalized treatment approaches based on detailed molecular profiling. Despite limitations like sample size, this research lays the groundwork for further investigation into melanoma's genetic intricacies and therapeutic vulnerabilities.

原发性和转移性黑色素瘤中 KIT 基因的突变情况及其异质性。
背景:本研究调查了原发性和转移性黑色素瘤中 KIT 基因的突变情况:本研究调查了原发性和转移性黑色素瘤中 KIT 基因的突变情况,强调了基因异质性的重要性:本研究是一项回顾性队列研究,包括1996年至2010年间从巴西圣保罗医院获得的福尔马林固定和石蜡包埋黑色素瘤样本。研究对象包括浅表扩散型(SSM)和尖状扁平型(AL)亚型的原发性黑色素瘤及其转移瘤,并利用新一代测序技术探讨遗传异质性:尽管因质量问题损失了57个样本,但仍对来自20名患者的27个样本进行了分析,结果显示AL亚型和SSM亚型的分布几乎相等。这两种组织学亚型都发现了KIT基因变异,包括以前未曾描述过的变异和多态性,强调了此类变异在黑色素瘤发病机制中的作用以及靶向治疗的潜力。在两种组织学亚型中还观察到了肿瘤的异质性:这项研究强调了黑色素瘤的复杂性,即肿瘤内部和肿瘤之间存在不同的突变景观,并提倡基于详细分子图谱的个性化治疗方法。尽管存在样本量等限制,但这项研究为进一步研究黑色素瘤错综复杂的基因和治疗弱点奠定了基础。
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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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