Distinct genetic and phenotypic characteristics of not otherwise specified (NOS) melanoma.

作者：C Goldberger, Faisal Fa’ak, Chen Lyu, Richard L. Shapiro, Russell S. Berman, Erica B. Friedman, Ann Y. Lee, Erol C. Bayraktar, George Jour, Kelsey R. Monson, Robert Ferguson, Tomas Kirchhoff, Judy Zhong, Iman Osman · 发表于：Journal of Clinical Oncology · 年份：2023 · DOI：10.1200/jco.2023.41.16_suppl.e21571 · 被引用次数：2 · 研究领域：Cutaneous Melanoma Detection and Management

e21571 Background: We previously reported on the biological relevance of melanoma histologic subtypes (Lattanzi et al, JNCI 2019). However, a substantial percentage of primary melanoma is histologically subtyped as NOS. The impact of this designation on clinical outcome is untested but casually believed not to have an impact considering the increasing reliance of molecular subclassification of melanoma tumor that might eliminate the need for histologic characterization. We also reported our data that supported a role for melanoma germline prognostic factors independent of known prognostic criteria (Chat et al, Front Oncol 2023). In this study, we sought to determine if NOS represents phenotypically and genetically distinct subtype or its clinical behavior is determined by AJCC criteria. Methods: We studied primary melanoma patients prospectively accrued and followed up using an IRB approved protocol at NYULH. We tested the association between NOS and baseline characteristics (e.g. thickness, ulceration, stage, Mitotic Index, TIL) and its association with recurrence free survival (RFS), and overall survival (OS) using Kaplan-Meier and multivariable Cox regression analyses. We also performed Principal Component Analysis (PCA) to test the clustering of NOS compared to other subtypes. We then examined the association between germline genetic variants and the development of NOS melanoma. Analyzing imputed SNP data generated using global screening array (GSA) from blood DNA we comp...