IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.
Bottom Line: We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma.We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues.This case is unique and supports the IDH2-dependent genetic pathway and second-hit model for gliomagenesis.
Affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.Show MeSH
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Mentions: A 24-year-old Japanese woman presented with an approximate 1-month history of headache. Her medical history included Maffucci syndrome with multiple enchondromas of several phalanges and metatarsal bones of the left hand (Fig.1a,b), combined with hemangiomas of soft tissue in the right foot (Fig.1c). She had skeletal deformities caused by enchondromas of the phalanges of the left fingers, particularly her index finger, appearing at 10 years of age, and hemangiomas on her right foot, appearing at 16 years of age. The left-hand deformities gradually worsened, and she underwent surgical excision of the proximal phalanx of the left index finger and complete removal of the hemangiomas in her right foot at 21 years of age. Pathological analysis revealed mesodermal dysplasia manifesting as a combination of enchondromatosis and hemangiomatosis. The enchondromas had a multinodular architecture characterized by islands of cartilage (Fig.1d).
Affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.