Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex

Ferdosi, Samira; Saffari, Mojtaba; Alishahi, Razieh; Ghanadan, Alireza; Shirkohi, Reza

doi:10.31557/APJCP.2021.22.10.3347

Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex

Document Type : Research Articles

Authors

¹ Cancer Research Center, Cancer Research Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

² Department of Genetics, Faculty of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

³ Department of Dermatopathology, Razi Hospital, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

⁴ Department of Pathology, Cancer Institute of Iran, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

⁵ Cancer Biology Research Center, Cancer Research Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

10.31557/APJCP.2021.22.10.3347

Abstract

Objective: Malignant melanoma is a highly lethal melanocytic neoplasia with different predisposing factors. The genetic background in familial cases is an important issue in finding at risk family members. CDKN2A is one of these predisposing genes which have been estimated to be involved in germ line mutation in approximately 5-10% of familial melanoma cases. Materials and Methods: An inclusion criteria for familial melanoma was prepared according to the literature, and the age of onset was considered as a single criteria for selection. A total number of 322 melanoma cases were investigated regarding the criteria, among which 20 patients were chosen (<40 years). DNA was extracted from Formalin Fixed Paraffin Embed of normal tissues and DNA sequencing was performed for all coding sequences of CDKN2A (p16). Results: One of the cases showed a pathogenic mutation in codon 108, exon 2(322G >C; Asp108His). Further analysis of his offspring indicated no mutation in the next generation. Conclusion: As far as the authors of the present study are concerned, this was the first report on this germ-line mutation with mentioned amino acid alteration in the melanoma. Screening the CDKN2A gene for possible mutation could prevent the incidence of familial cases in at risk members.

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