ACUTE LYMPHOID LEUKEMIA ASSOCIATED WITH MAFFUCCI SYNDROME

Purpose: Maffucci's syndrome is a nonhereditary congenital disorder as sociated with multiple enchondromas, soft tissue hemangiomas, or lymph angiomas. It carries an associated high risk of the development of mal ignant neoplasms, particularly sarcomatous transformation of an enchon droma, as well as other malignant mesodermal and nonmesodermal neoplas ms. Hematopoietic malignancies arising in Maffucci's syndrome are exce edingly rare. We report the case of a 14-year-old girl with Maffucci's syndrome who developed acute lymphoid leukemia. Patients and Methods: The patient presented at 18 months of age with enchondromatosis. Maff ucci's syndrome was established at 10 years of age after the appearanc e of multiple hemangiomas. Results: At 14 years of age the patient dev eloped fatigue, frequent nosebleeds, easy bruising, and weight loss, w ith circulating blasts in the peripheral blood. Bone marrow examinatio n showed replacement of marrow spaces with leukemic blasts. Immunohist ochemical and flow cytometric findings were consistent with a diagnosi s of acute lymphoblastic leukemia with myeloid antigen expression. Con clusions: The occurrence of acute leukemia in a patient with Maffucci' s syndrome may represent predisposition to yet another malignancy and reflect further expression of a generalized mesodermal dysplasia in th ese patients. It also emphasizes the need for aggressive surveillance in patients with Maffucci's syndrome.