A novel method to assess copy number variations in melanocytic neoplasms: Droplet digital PCR for precise quantitation of MYC and MYB genes

被引：2

作者：

Ramos-Rodriguez, Alvaro J. ^{[1
,6
]}

Mcfadden, Jason R. ^{[2
]}

Momtahen, Shabnam ^{[1
]}

Leblanc, Robert E. ^{[1
]}

Yan, Shaofeng ^{[1
]}

Chaudhari, Advaita S. ^{[2
]}

Cloutier, Jeffrey M. ^{[1
]}

Stevanovic, Mirjana ^{[2
]}

Barney, Rachael ^{[1
,3
]}

Syku, Marie ^{[4
]}

Lozano-Franco, Mario ^{[5
]}

Hughes, Edward ^{[1
,3
]}

Sriharan, Aravindhan ^{[1
]}

机构：

[1] Dartmouth Hitchcock Med Ctr, Dept Pathol &Lab Med, Lebanon, NH USA

[2] Dartmouth Coll, Hanover, NH USA

[3] Dartmouth Hitchcock Med Ctr, Clin Genom & Adv Technol Lab, Lebanon, NH USA

[4] Dartmouth Hitchcock Med Ctr, Dept Med, Lebanon, NH USA

[5] Univ Cent Caribe, Sch Med, Bayamon, PR USA

[6] Dartmouth Hitchcock Med Ctr, Dept Pathol & Lab Med, Lebanon, NH 03766 USA

来源：

JOURNAL OF CUTANEOUS PATHOLOGY | 2024年 / 51卷 / 02期

关键词：

ambiguous melanocytic neoplasms; chromosomal microarray; copy number variations; droplet digital polymerase chain reaction; melanoma; molecular assays; multiplexed dddPCR assay; quantitation of MYC and MYB genes; IN-SITU HYBRIDIZATION; COMPARATIVE GENOMIC HYBRIDIZATION; MELANOMA; DIAGNOSIS; SENSITIVITY; FISH;

D O I：

10.1111/cup.14540

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Introduction While most melanocytic neoplasms can be classified as either benign or malignant by histopathology alone, ancillary molecular diagnostic tests can be necessary to establish the correct diagnosis in challenging cases. Currently, the detection of copy number variations (CNVs) by fluorescence in situ hybridization and chromosomal microarray (CMA) are the most popular methods, but remain expensive and inaccessible. We aim to develop a relatively inexpensive, fast, and accessible molecular assay to detect CNVs relevant to melanoma using droplet digital polymerase chain reaction (ddPCR) technology.Methods In this proof-of-concept study, we evaluated CNVs in MYC and MYB genes from 73 cases of benign nevi, borderline melanocytic lesions, and primary and metastatic melanoma at our institution from 2015 to 2022. A multiplexed ddPCR assay and CMA were performed on each sample, and the results were compared.Results Concordance analysis of ddPCR with CMA for quantification of MYC and MYB CNVs revealed a sensitivity and specificity of 89% and 86% for MYC and 83% and 74% for MYB, respectively.Conclusion We demonstrate the first use of a multiplexed ddPCR assay to identify CNVs in melanocytic neoplasms. With further improvement and validation, ddPCR may represent a low-cost and rapid tool to aid in the diagnosis of histopathologically ambiguous melanocytic tumors.

引用

页码：146 / 154

页数：9

共 20 条

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