<i><scp>CDKN</scp>2A</i> mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: a clinical dermoscopic genetic study

Giorgi, Vincenzo De; Savarese, Imma; D’Errico, Antonietta; Gori, Alessia; Papi, Federica; Colombino, Maria; Sini, Maria Cristina; Stanganelli, Ignazio; Palmieri, Giuseppe; Massi, Daniela

doi:10.1111/jdv.12643

Cited by 9 publications

(5 citation statements)

References 23 publications

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“…Biallelic loss of CDKN2A has been proven to be an early event in melanomagenesis and is found in invasive melanomas. The presence of the CDKN2A melanoma susceptibility has been observed also in patients with multiple primary melanoma (MPM) [50].…”

Section: Familial Melanomamentioning

confidence: 99%

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Dermoscopic Criteria, Histopathological Correlates and Genetic Findings of Thin Melanoma on Non-Volar Skin

Massone

Hofman-Wellenhof

Chiodi

et al. 2021

Genes

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Dermoscopy is a non-invasive, in vivo technique that allows the visualization of subsurface skin structures in the epidermis, at the dermoepidermal junction, and in the upper dermis. Dermoscopy brought a new dimension in evaluating melanocytic skin neoplasms (MSN) also representing a link between clinical and pathologic examination of any MSN. However, histopathology remains the gold standard in diagnosing MSN. Dermoscopic–pathologic correlation enhances the level of quality of MSN diagnosis and increases the level of confidence of pathologists. Melanoma is one of the most genetically predisposed among all cancers in humans. The genetic landscape of melanoma has been described in the last years but is still a field in continuous evolution. Melanoma genetic markers play a role not only in melanoma susceptibility, initiation, and progression but also in prognosis and therapeutic decisions. Several studies described the dermoscopic specific criteria and predictors for melanoma and their histopathologic correlates, but only a few studies investigated the correlation among dermoscopy, pathology, and genetic of MSN. The aim of this work is to review the published data about dermoscopic features of melanoma, their histopathological correlates with regards also to genetic alterations. Particularly, this review will focus on low-CSD (cumulative sun damage) melanoma or superficial spreading melanoma, high-CSD melanoma, and nevus-associated melanoma.

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Section: Familial Melanomamentioning

confidence: 99%

“…For each patient with multiple primary melanomas harboring a CDKN2A germline mutation, it is possible to find the same kind of dermoscopical pattern among their melanocytic tumors [50].…”

Section: Familial Melanomamentioning

confidence: 99%

Dermoscopic Criteria, Histopathological Correlates and Genetic Findings of Thin Melanoma on Non-Volar Skin

Massone

Hofman-Wellenhof

Chiodi

et al. 2021

Genes

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“…Assim, famílias com elevado risco genético devem ser prontamente identificadas, estudadas e sujeitas a rastreios regulares do tegumento. [13][14][15] O risco de desenvolvimento de outras neoplasias malignas em doentes portadores de mutação no gene CDKN2A está estabelecido, particularmente no tumor do pâncreas. Porém, não existem medidas bem estabelecidas de prevenção e/ou diagnóstico precoce que melhorem a sobrevida dos doentes com cancro do pâncreas.…”

Section: Genes E Vias De Sinalização Importantes No Melanomaunclassified

Genes e Melanoma

Sanches

Soares‐de‐Almeida

Freitas

2018

SPDV

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RESUMO -A compreensão do desenvolvimento do melanoma tem sido alvo de avanços importantes na última década. A relevância fisiopatológica das alterações genéticas na oncogénese do melanoma bem como a evidência do risco familiar associado têm condicionado de forma positiva o tratamento e prognóstico dos doentes, nomeadamente nos doentes com doença avançada. Neste artigo os autores descrevem de forma sucinta e esquemática as diferentes vias de sinalização celular, com importância na oncogénese do melanoma e que se encontram subjacentes à génese dos novos alvos terapêuticos presentemente em utilização e em desenvolvimento. PALAVRAS-CHAVE -Genes; Melanoma; Oncogenes; Transdução de Sinais. Genes and Melanoma ABSTRACT -Major advances have been made in the understanding of melanoma in the past decade. The pathophysiology of genetic aberrations in melanoma oncogenesis as well as the evidence of family risk associated, have relevant implications in the treatment and prognosis of patients, namely in patients with advanced disease. In this paper the authors describe, in a schematic and precise way, the different molecular pathways implicated in oncogenetic events in melanoma, which are the molecular targets of new on-going and newly developed targeted therapies. KEYWORDS -Melanoma; Genes; OncogenesSignal Transduction. INTRODUÇÃOO cancro é uma doença do genoma, sendo a tumorigénese considerada classicamente o resultado da ativação de oncogenes e inativação de genes supressores tumorais. 1,2O melanoma maligno, tal como outras neoplasias comuns, tem aberrações cromossómicas frequentes e características que o distinguem de nevos pigmentados. Tipicamente os nevos melanociticos não têm aberrações cromossómicas ou têm um número restrito de alterações genéticas sem sobreposição às do melanoma. Dentro dos melanomas o risco de desenvolvimento da doença e os padrões de aberrações genéticas observáveis variam de forma dramática consoante o local anatómico, os padrões de exposição solar e a carga genética. 1,3 No que respeita à transmissão familiar da doença, cerca de 10% dos melanomas cutâneos têm história familiar, com pelo menos um ou dois familiares afectados. [3][4][5] Atualmente, com os progressos notórios em termos de reconhecimento de mutações e compreensão do perfil molecular das células tumorais do melanoma, há uma necessidade crescente de subdivisão genómica dos diversos tipos de melanoma. Desta forma, em 2015, a Cancer Genome Atlas Network propôs a classificação deste tumor de acordo com a mutação genética predominante, existindo assim quatro subtipos: BRAF mutado, RAS mutado, NF1 mutado e triplos selvagens ou wild type. Esta classificação poderá não só ajudar na compreensão dos diferentes comportamentos biológicos e clínicos dos diversos tipos de melanoma como criar uma forma útil e eficaz para avaliação dos doentes, com implicações terapêuticas importantes. 6 EPIDEMIOLOGIA Embora o melanoma corresponda apenas a 4% de todos os tumores cutâneos é responsável por 80% das mortes por neoplasias cutâneas.7,8 Segundo a American C...

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“…An increase in the frequency of CDKN2A mutations was observed in patients whose relatives had MPM. In fact, CDKN2A germline mutations have been identified in less than 2% of single primary melanoma cases, 8-12% of sporadic MPM cases and 47% of MPM patients with familial melanoma (fM) [4,5]. p16INK4A is produced from the transcript of exons 1a, 2 and 3 of the CDKN2A gene.…”

Section: Introductionmentioning

confidence: 99%

Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a caucasian family

et al. 2016

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Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes.In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree.From the analysis of the pedigree, we were able to identify a “protective” haplotype with respect to MPM, including MGMT p.I174V alteration. The second generation offspring is under strict follow up as some of them have a higher risk of developing MPM according to our model.

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CDKN2A mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: a clinical dermoscopic genetic study

Abstract: Even being aware of the limitations of this study, according to hereditary characters and their modes of transmissions, we could speculate that for each patient with a CDKN2A germline mutation, it is possible to find the same kind of dermoscopical pattern among their melanocytic tumours.

Cited by 9 publications

References 23 publications

Dermoscopic Criteria, Histopathological Correlates and Genetic Findings of Thin Melanoma on Non-Volar Skin

Dermoscopic Criteria, Histopathological Correlates and Genetic Findings of Thin Melanoma on Non-Volar Skin

Genes e Melanoma

Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a caucasian family

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