黑素细胞肿瘤分子遗传学的最新进展以及分子遗传学技术在其诊断和治疗中的当前应用

An Update Regarding the Molecular Genetics of Melanocytic Neoplasms and the Current Applications of Molecular Genetic Technologies in Their Diagnosis and Treatment.

作者信息

Kiavash Katrin, Bluth Martin H, Thompson Andrew David

机构信息

Department of Pathology, Wayne State University, 4160 John R Street, Detroit, MI 48201, USA; Department of Pathology and Laboratory Medicine, Detroit Medical Center University Laboratories, 4160 John R Street, Detroit, MI 48201, USA.

Department of Pathology, Wayne State University, 4160 John R Street, Detroit, MI 48201, USA; Department of Pathology, Wayne State University, School of Medicine, 540 East Canfield Street, Detroit, MI 48201, USA; Pathology Laboratories, Michigan Surgical Hospital, 21230 Dequindre Road, Warren, MI 48091, USA.

出版信息

Clin Lab Med. 2018 Jun;38(2):385-399. doi: 10.1016/j.cll.2018.02.002.

DOI:10.1016/j.cll.2018.02.002

PMID:29776637

Abstract

Molecular genetic technologies are used to aid in diagnosis and treatment of borderline melanocytic tumors as an adjuvant to the gold standard histopathologic evaluation. A specific set of fluorescence in situ hybridization probes is widely used to aid in diagnosing challenging melanocytic lesions. New melanoma probe cocktails have revealed increased sensitivity and specificity in ambiguous melanocytic cases. Array comparative genomic hybridization is a more complex technology used for the work-up of diagnostically problematic Spitzoid melanocytic proliferations. Cutting-edge technologies, including next-generation sequencing and cell-free nucleic acid analysis, are promising biomarker applications for mutation detection towards personalized patient management.

摘要

分子遗传技术作为金标准组织病理学评估的辅助手段，用于辅助诊断和治疗交界性黑素细胞肿瘤。一组特定的荧光原位杂交探针被广泛用于辅助诊断具有挑战性的黑素细胞病变。新的黑色素瘤探针组合在模棱两可的黑素细胞病例中显示出更高的敏感性和特异性。阵列比较基因组杂交是一种更复杂的技术，用于诊断有问题的Spitzoid黑素细胞增殖的检查。包括下一代测序和游离核酸分析在内的前沿技术，有望成为用于个性化患者管理的突变检测的生物标志物应用。