A Case of Monosomy 7 Syndrome Transformed into Acute Myelocytic Leukemia / 대한소아혈액종양학회지

ABSTRACT

Monosomy 7 syndrome is a rare myeloproliferative disorder of children, and has a clinical presentation similar to JCML. Both syndromes present in children younger than 2 years of age. Pallor, lymphaenopathy, hepatosplenomegaly, recurrent infection, facial rash and petechial bleeding are frequently present. The hematologic picture is characterized by leukocytosis with monocytosis, anemia, thrombocytopenia. It is important to distinguish these two disorders because of their different natural courses. The course of JCML is brief, with most patients dying within 9 months. Patients with monosomy 7 syndrome often present initially with repeated bacterial infections and develop AML after a latent period of 3~6 years. We report a case of monosomy 7 syndrome with typical clinical course in a 3-year-old male patient. The patient experienced a malignant transformation into AML. To our knowledge, this is the first case report of malignant transformation in monosomy 7 syndrome of children in Korea.