Hereditary melanoma: a five-year study of Brazilian patients in a cancer referral center - phenotypic characteristics of probands and pathological features of primary tumors

Abstract

BACKGROUNDApproximately five to 10% of all melanomas occur in families with hereditary predisposition and the main high-risk melanoma susceptibility gene is the CDKN2A.OBJECTIVESTo describe, after a five-years study, the clinical data of patients (probands) from familial melanoma kindreds, and the pathological characteristics of their melanoma.METHODSThe inclusion criteria were melanoma patients with a family history of melanoma or pancreatic cancer (first- or second-degree relatives) or patients with multiple primary melanomas (MPM).RESULTSA total of 124 probands were studied, where 64 were considered familial cases and 60 MPM. Mean age at diagnosis was 50 years. Our results show that the following characteristics were prevalent: skin phototype I/II (89.5%), sunburn during childhood (85.5%), total number of nevi ≥50 (56.5%), Breslow thickness ≤1.0mm (70.2%), tumors located on the trunk (53.2%) and superficial spreading melanomas (70.2%).STUDY LIMITATIONSAnalyses of probands’ relatives will be demonstrated in future publication.CONCLUSIONSOur findings are in agreement with previous familial melanomas reports. Fifteen new melanomas in 11 patients were diagnosed during follow up, all of which were ≤1.0 mm. This is the largest dataset of Brazilian melanoma prone kindreds to date, thus providing a complete database for future genetic studies.

CDKN2A/CDK4 status in Brazilian patients meeting clinical criteria for hereditary melanoma: a cross‐sectional descriptive trial

“…These data partially differ from the findings described in other melanoma and HM cohorts, in which the most common site was the trunk, followed by the lower limbs. 3,32,34 The histopathological findings were in agreement with other studies with HM patients. 32,[34][35][36] This study has identified an A102E variant in one patient meeting clinical criteria for HM.…”

“…However, in the current cohort the most common location was the trunk among both men and women, followed by the upper limbs. These data partially differ from the findings described in other melanoma and HM cohorts, in which the most common site was the trunk, followed by the lower limbs 3,32,34 . The histopathological findings were in agreement with other studies with HM patients 32,34–36 …”

“…28,30 Regarding the phenotypic characteristics observed, it is worth noting that the study population had a higher proportion of patients with multiple melanocytic nevi and atypical nevus syndrome when compared to other HM cohorts in Latin America. 31,32 Considering the anatomical location, it is reported in the literature that melanomas in men are more common in the trunk. In women, they are more frequent in the lower limbs.…”

Fatores De Risco, Patogenia E Aspectos Clínicos Do Melanoma No Brasil: Uma Revisão Integrativa

“…Ele pode apresentar reduzida pigmentação e é de difícil diagnóstico devido a sua semelhança com outras doenças cutâneas. 9 A produção de melanina é responsável pelo acúmulo de peróxido de hidrogênio no interior dos melanócitos, levando a mutações e dano do DNA. A malignização dos melanócitos está diretamente relacionada à exposição crônica da radiação solar, levando a danos ao DNA, por meio da absorção de moléculas endógenas.…”

Antimelanoma effect of manool in 2D cell cultures and reconstructed human skin models

“…[7] The predisposition to melanoma is related to genetic, phenotypic, and environmental factors, considering that the concept of melanoma risk is dynamic and multifaceted, due to the diverse etiology and heterogeneous nature of the disease. [8,9] Genome-wide sequencing approaches have identified remarkable genetic complexity in melanoma, [10] and there are several genes mutated in melanoma, with the BRAF (v-raf murine sarcoma viral oncogene homolog B1) V600E mutation being the most frequently observed (50% of the cases). [11,12] BRAF is involved in the control of cell growth and migration.…”