Rhabdomyosarcoma Presenting as Acute Leukemia Identified by Cytogenetic and FISH Analysis of Bone Marrow / 대한혈액학회지

ABSTRACT

Rhabdomyosarcoma is the most common malignant soft tissue tumor in children. In adults, however, it is extremely rare, with only a few cases observed. We describe a case of an adolescent who presented with hematologic findings compatible with acute leukemia. A 35-year-old woman was transferred to the Dong-A University Hospital for further evaluation of thrombocytopenia, anemia, and ovarian mass lesions. The peripheral blood film showed a leukoerythroblastic picture with circulating blasts. The bone marrow was markedly hypercellular and 85.6 % of all nucleated cells were atypical tumor cells. Immunophenotyping with both myeloid and lymphoid markers was all negative. With cytogenetic analysis of bone marrow 8 of 11 metaphases were characterized by a translocation t(2;13)(q35;q14), strongly indicated a diagnosis of alveolar rhabdomyosarcoma. Fluorescence in situ hybridization (FISH) using whole chromosome paints for chromosomes 2 and 13 confirmed the cytogenetic diagnosis.