Spinal ependymoma in a patient with Kabuki syndrome: a case report

Conclusion:
Kabuki syndrome is not considered a cancer predisposition syndrome. Nonetheless, a number of tumors have been reported in patients with Kabuki syndrome. Spinal ependymoma is a rare disease in the pediatric and young adult population. Whereas NF2 mutations are frequently associated to ependymoma such an association has never been described in Kabuki syndrome. To our knowledge this is the first case of ependymoma in a KMT2D mutated Kabuki syndrome patient. Despite KMT2D role in cancer has previously been described, no genetic data are available for previously reported Kabuki syndrome patients with tumors. Nonetheless, the association of two rare diseases raises the suspicion for a common determinant.

Source: BMC Medical Genetics - September 5, 2015 Category: Genetics & Stem Cells Authors: Davide RomaPaolo PalmaRossella CapolinoLorenzo Figà-TalamancaFrancesca Diomedi-CamasseiFrancesca LepriMaria DigilioCarlo MarrasRaffaella MessinaAndrea CaraiFranco RandiAngela Mastronuzzi Source Type: research