Mosaic aneuploidy in a patient with periocular basal cell carcinoma. Report of a case
Year: 2024
Type: article
Study design: Case Report
Abstract: Basal cell carcinoma constitutes approximately 80% of non-melanocytic skin tumors and originates in the basal layer of the epidermis and its appendages. Genetic alterations that affect neoplastic development have been identified, caused by external physical or chemical agents, hereditary, chromosomal rearrangements, allelic loss and gene amplification. This article presents a white-skinned male individual, 64 years old, with a diagnosis of periocular basal cell carcinoma, who underwent a cytogenetic study of the tumor tissue and a mosaic chromosomal aneuploidy was identified.The presence of mosaic aneuploidy in patients with periocular basal cell carcinoma suggests that chromosomal aberrations may play an important role in tumor progression and aggressiveness. This finding highlights the need to integrate cytogenetic studies in the clinical evaluation of skin tumors, facilitating a better understanding of the underlying biological mechanisms, opening new avenues for therapeutic research.
Authors: Enny Morales Rodríguez, Arlay Castelvi López, Damaris García Gómez, Odenis Fernández González, Doralis Sabó Sánchez
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4403793283