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

Abstract

Maffucci syndrome is a rare non-familial condition characterized by enchondromas/chondrosarcomas and soft tissue hemangiomas. Multiple fibroadenomas in young women has been described in patients with Maffucci syndrome. IDH1/2 somatic mutations have been identified in tumors arising in a context of Maffucci syndrome in small case series. We present the case of a 20-year-old woman with multicentric bilateral breast fibroadenomas and history of finger enchondroma although a next generation sequencing study failed to demonstrate IDH1/2 gene mutations. The combination of enchondroma and multiple and bilateral breast fibroadenomas in a young patient should warrant consideration of Maffucci syndrome. Given the possibility of genetic mosaicism in tumor cells and lack of IDH1/2 somatic mutations in certain Maffucci-related tumors, closer and longer patient follow up is indicated in such patient.

Keywords

• Maffucci syndrome
• Fibroadenoma
• Enchondroma
• IDH1 mutation
• IDH2 mutation