New Insights into Melanoma Tumor Syndromes

Sarem Rashid; Sameer Gupta; Shelley R McCormick; Hensin Tsao

doi:10.1016/j.xjidi.2022.100152

New Insights into Melanoma Tumor Syndromes

JID Innov. 2022 Sep 2;2(6):100152. doi: 10.1016/j.xjidi.2022.100152. eCollection 2022 Nov.

Authors

Sarem Rashid^{1

2}, Sameer Gupta³, Shelley R McCormick⁴, Hensin Tsao^{1

5}

Affiliations

¹ Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
² Boston University School of Medicine, Boston, Massachusetts, USA.
³ Department of Dermatology, The Warren Alpert Medical School, Brown University, Providence, Rhode Island, USA.
⁴ Mass General Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁵ Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA.

Abstract

Melanoma tumor syndromes (MTS) represent an important minority of familial melanoma cases. In these patients, the accumulation of sequence alterations in essential genes may prelude the risk of internal malignancies, in addition to melanoma. Although several host and environmental factors have been implicated in familial melanoma, the exact mechanisms of cancer predisposition-particularly in the context of mixed cancer syndromes-still remain unclear. In this paper, we review new insights into MTS and elucidate recent efforts that guide individualized prognostication and treatment for these diseases in the past quarter century.

Keywords: CI, confidence interval; CS, Cowden syndrome; E2F, E2 factor; FAMMM, familial atypical (multiple) mole melanoma; LFS, Li‒Fraumeni syndrome; LOF, loss-of-function; MTS, melanoma tumor syndrome; NGS, next-generation sequencing; PC, pancreatic cancer; PHTS, PTEN hamartoma tumor syndrome; TERT, telomerase reverse transcriptase; TPDS, tumor predisposition syndrome; UM, uveal melanoma; ssDNA, single-strand DNA.

Publication types

Review