슈바흐만-다이먼드 증후군 (Schwachman-Diamond Syndrome) 에서 병발한 급성 골수성 백혈병에 대한 동종골수이식 증례보고

초록

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency, blood dyscrasia, and skeletal abnormalities. About one quarter of the patients develop leukemia. We experienced a case of acute myeloid leukemia, M2 on FAB classification, in a 21 year old woman affected by SDS. She was treated with remission induction chemotherapy consisting of cytarabine and idarubicin, consolidation chemotherapy consisting of high dose cytarbine and daunirubicin, and finally allogeneic bone marrow transplant after preparation with total body irradiation and high dose cyclophosphamide. GVHD prophylaxis consisted of short course of methotrexate and 6 months’ cyclosporine A. The treatment course was uneventful with no complications, and now she is thought to be cured of leukemia.