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

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

Background Melanoma is the most lethal skin cancer, and its incidence has increased worldwide. About 10% of cases are classified as hereditary melanoma (HM). CDKN2A and CDK4 are the major high‐risk genes. Families are also more prone to develop pancreatic cancer, and different forms of oncological s...

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Published in:International journal of dermatology Vol. 62; no. 8; pp. 1060 - 1066
Main Authors: Arnaut, Joyce R. M. B., Guimarães, Isabella dos S., Santos, Anna Cláudia E., Rodrigues, Elizângela M., Machado, Jorge R. da S., Melo, Andreia C.
Format: Journal Article
Language:English
Published: England Blackwell Publishing Ltd 01-08-2023
Subjects:
3' Untranslated regions
5' Untranslated Regions
Adult
Brazil - epidemiology
Cancer
Criteria
Cross-Sectional Studies
Cyclin-dependent kinase 4
Cyclin-Dependent Kinase 4 - genetics
Cyclin-Dependent Kinase Inhibitor p16 - genetics
Exons
Genetic Predisposition to Disease
Genetics
Germ-Line Mutation
Humans
Melanoma
Melanoma - epidemiology
Melanoma - genetics
Melanoma - pathology
Melanoma, Cutaneous Malignant
Mutation
Nevus
Pancreatic cancer
Patients
Skin cancer
Skin Neoplasms - epidemiology
Skin Neoplasms - genetics
Skin Neoplasms - pathology
Sunburn
Tumors
Brazil
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Summary:Background Melanoma is the most lethal skin cancer, and its incidence has increased worldwide. About 10% of cases are classified as hereditary melanoma (HM). CDKN2A and CDK4 are the major high‐risk genes. Families are also more prone to develop pancreatic cancer, and different forms of oncological surveillance are recommended. Objectives Describe the prevalence of CDKN2A/CDK4 germline mutations in melanoma‐prone patients and their phenotypic and histopathological features. Methods A total of 69 patients meeting the clinical criteria for HM were included in this cross‐sectional descriptive study. Amplification by PCR and genomic sequencing were used. The variants were classified according to American College of Medical Genetics (ACMG) criteria. Results The mean age at first diagnosis of melanoma was 44.8 years (SD ± 17.83). Most patients had phototype II (44.9%), more than 50 melanocytic nevi (76.8%), atypical nevus syndrome (72.5%), history of sunburn (76.8%), and multiple primary melanomas without a family history of this tumor (74.3%). Two hundred melanomas were observed. Most tumors had a Breslow index ≤1.0 mm (84.5%), location in the trunk (60.5%), and superficial spreading histological subtype (22.5%). Four variants were found in CDKN2A exons in seven patients (c.305C>A, c.26T>A, c.361G>A e c.442G>A), two variants in the 5′UTR region in five patients (c.‐25C>T and c.‐33G>C), and two variants in the 3′UTR region in 21 patients (c.*29C>G and c.*69C>T). One likely pathogenic variant (c.305C>A) was identified in one patient (1.4%). No variant was found in CDK4. Conclusion The prevalence of CDKN2A mutations was 1.4% in Brazilian patients meeting clinical criteria for HM.
Bibliography:Conflict of interest: None.
Funding source: The Translational Research Laboratory of the Division of Clinical Research and Technological Development used its own financial resources for the development of this study.
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0011-9059
1365-4632
DOI:10.1111/ijd.16742