Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes

A 16-year-old boy developed multiple rare skin tumours called atypical cutaneous fibrous histiocytomas (ACFHs). Genetic testing revealed he has two inherited cancer predisposition conditions: Li-Fraumeni syndrome (TP53 gene) and Birt-Hogg-Dubé syndrome (FLCN gene), a rare combination known as MINAS. His TP53 mutation was new (not inherited), while the FLCN mutation came from his father. This is the first known case linking ACFHs with both conditions. The findings highlight the importance of genetic testing in unusual tumour cases and the need for personalized screening plans. More research is needed to understand how multiple gene mutations affect tumour development. (By Dr. Schaida Schirwani, https://jmg.bmj.com/content/early/2025/09/03/jmg-2025-110820 )

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