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Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

Ciccarese G.
•
Dalmasso B.
•
Bruno W.
altro
Ghiorzo P.
2020
  • journal article

Periodico
JOURNAL OF TRANSLATIONAL MEDICINE
Abstract
BACKGROUND: The p.E318K variant of the Melanocyte Inducing Transcription Factor (MITF) has been implicated in genetic predisposition to melanoma as an intermediate penetrance allele. However, the impact of this variant on clinico-phenotypic, as well as on dermoscopic patterns features of affected patients is not entirely defined. The purpose of our study was to assess the association between the p.E318K germline variant and clinic-phenotypical features of MITF+ compared to non-carriers (MITF-), including dermoscopic findings of melanomas and dysplastic nevi. METHODS: we retrospectively analyzed a consecutive series of 1386 patients recruited between 2000 and 2017 who underwent genetic testing for CDKN2A, CDK4, MC1R and MITF germline variants in our laboratory for diagnostic/research purposes. The patients were probands of melanoma-prone families and apparently sporadic single or multiple primary melanoma patients. For all, we collected clinical, pathological information and dermoscopic images of the histopathologically diagnosed melanomas and dysplastic nevi, when available. RESULTS: After excluding patients positive for CDKN2A/CDK4 pathogenic variants and those affected by non-cutaneous melanomas, our study cohort comprised 984 cutaneous melanoma patients, 22 MITF+ and 962 MITF-. MITF+ were more likely to develop dysplastic nevi and multiple primary melanomas. Nodular melanoma was more common in MITF+ patients (32% compared to 19% in MITF-). MITF+ patients showed more frequently dysplastic nevi and melanomas with uncommon dermoscopic patterns (unspecific), as opposed to MITF- patients, whose most prevalent pattern was the multicomponent. CONCLUSIONS: MITF+ patients tend to develop melanomas and dysplastic nevi with histopathological features, frequency and dermoscopic patterns often different from those prevalent in MITF- patients. Our results emphasize the importance of melanoma prevention programs for MITF+ patients, including dermatologic surveillance with digital follow-up.
DOI
10.1186/s12967-020-02253-8
WOS
WOS:000515849900001
Archivio
http://hdl.handle.net/11368/2959055
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079334638
https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-020-02253-8
Diritti
open access
FVG url
https://arts.units.it/bitstream/11368/2959055/1/Pizzichetta MITF s12967-020-02253-8.pdf
Soggetti
  • Cancer genetic

  • Cutaneous melanoma

  • Dermoscopy

  • Dysplastic nevi

  • E318K

  • Germline variant

  • Melanocyte Inducing T...

  • Nevi

  • Renal cell carcinoma

  • Susceptibility

Scopus© citazioni
12
Data di acquisizione
Jun 7, 2022
Vedi dettagli
Web of Science© citazioni
17
Data di acquisizione
Mar 17, 2024
Visualizzazioni
3
Data di acquisizione
Apr 19, 2024
Vedi dettagli
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