Childhood Kaposi Sarcoma — A Rare Genetic Predisposition Explained

An ethnogeographic predisposition to classic Kaposi sarcoma (KS) is well established in people of Mediterranean descent. Until now, an autosomal recessive predisposition has also been suspected (but not established) in otherwise-healthy individuals with the exceptionally rare condition of childhood-onset KS unrelated to immunodeficiency.

Byun and colleagues have identified an underlying cause of genetic predisposition to KS in an HIV-negative Turkish woman born to consanguineous parents who presented with classic KS at age 14. Unlike patients with childhood KS related to Wiskott-Aldrich syndrome or IFN-γ receptor 1 deficiency, she had no history of primary immunodeficiency. Comparative whole exome sequencing of her, her parents, and an unaff…