Maffucci's syndrome and fibroadenoma of the breast: a case report

Introduction. Fibroadenomas are the most common benign tumors of the mammary glands in children and adolescents. In some cases, they may be part of hereditary tumor predisposition syndromes associated with a high risk of developing malignant neoplasms throughout life, and therefore genetic testing is relevant.The purpose of the study is to discribe the spectrum of genetic mutations in cancer-associated genes according to the results of next generation sequencing (NGS) in young patients with breast fibroadenomas.Matherials and methods. Sixteen teenage girls with fibroadenomas of the breast who were followed up in Research Institute of Pediatric Oncology and Hematology from 2020 to 2023 were enrolled in this study. Genetic testing by NGS was performed.Results. Pathogenic variants in cancer-associated genes were found in 4 (25 %) patients. In two cases, fibroadenomas were a part of Cowden’s syndrome associated with PTEN inactivation; two patients carried pathogenic variants in the BRCA1 and BRCA2 genes.Conclusion. Genetic testing of young patients with breast fibroadenomas is important to optimize the management strategy in order to reduce cancer risk in high-risk groups of patients.

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Maffucci's syndrome and fibroadenoma of the breast: a case report

Cited by 2 publications

References 9 publications

Young woman with multicentric bilateral fibroadenomas and enchondroma, a possible association with Maffucci syndrome

Young woman with multicentric bilateral fibroadenomas and enchondroma, a possible association with Maffucci syndrome

The relevance of genetic testing in young patients with breast fibroadenomas

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