Extensive “halo naevi” phenomenon and regression of melanin during nivolumab treatment in metastatic melanoma: A predictor of a better outcome?

Cavallo, Francesco; Roccuzzo, Gabriele; Avallone, Gianluca; Conforti, Claudio; Zalaudek, Iris; Giordano, Silvia; Rubatto, Marco; Fava, Paolo; Ribero, Simone; Quaglino, Pietro

doi:10.1111/dth.15559

Cited by 3 publications

(1 citation statement)

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“…Currently, an estimated 132,000 new cases occur each year worldwide, along with approximately 58,000 deaths [6][7][8]. Concurrent with rising incidence trends, the mortality rate in most of the world has been rising, yet the therapeutic landscape of unresectable stage III and IV melanoma has been recently revolutionized by immunotherapies and targeted therapies, which have markedly improved survival, compared to traditional chemotherapy regimens [9][10][11]. Similar to other cancers, melanoma has a multifactorial etiology, as its genesis results from the association of intrinsic and extrinsic risk factors [12,13].…”

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confidence: 99%

Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in A Third-Level Center

Roccuzzo

Giordano

Granato

et al. 2023

Cancers

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Cutaneous melanoma is a highly aggressive skin cancer. It is estimated that 5% to 10% of the underlying mutations are hereditary and responsible for familial (or hereditary) melanoma. These patients are prone to the early development and higher risk of multiple melanomas. In recent years, an increasing number of genes have been identified thanks to genetic testing, allowing the subsequent surveillance of individuals at risk, yet it is still difficult to predict the presence of these mutations on a clinical basis. In this scenario, specific phenotypic and dermoscopic features could help clinicians in their identification. The aim of this work has been to correlate mutations to prevalent dermoscopic patterns, paving the way for reference models useful in clinical practice. In our cohort, out of 115 patients referred to genetic counseling for melanoma, 25 tested positive (21.7%) for critical mutations: CDKN2A (n = 12), MITF (n = 3), BAP1 (n = 1), MC1R (n = 3), PTEN (n = 1), TYR (n = 2), OCA2 (n = 1), and SLC45A2 (n = 2). The phenotype profiles obtained through the digital acquisition, analysis, and description of both benign and malignant pigmented lesions showed a predominance of the type II skin phenotype, with an elevated mean total nevus number (182 moles, range 75–390). As for dermoscopic features, specific mutation-related patterns were described in terms of pigmentation, areas of regression, and vascular structures. Although further studies with larger cohorts are needed, our work represents the beginning of a new approach to the study and diagnosis of familial melanoma, underlining the importance of clinical and dermoscopic patterns, which may constitute a reference model for each gene, enabling comparison.

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