Cancer in Sotos syndrome: Report of a patient with acute myelocytic leukemia and review of the literature

Document Type





Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas. The NSD1 gene haploinsufficiency is associated with this syndrome. The authors report a case of acute myeloid leukemia developing in a child with Sotos syndrome. He was treated with standard chemotherapy and achieved sustained remission. On review of the literature, it was found that most malignancies in Sotos syndrome occur in childhood. In conclusion, because of their increased risk of developing malignancy, patients with Sotos syndrome should be followed closely for signs and symptoms of both hematologic and nonhematologic malignancies, at least during childhood.


This work was published before the author joined Aga Khan University

Publication (Name of Journal)

Journal of Pediatric Hematology/Oncology