Korean J Hematol.  2000 Nov;35(3-4):297-301.

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

Affiliations
  • 1Department of Clinical Pathology, Dong-A University College of Medicine, Pusan, Krorea.
  • 2Department of Internal Medicine, Dong-A University College of Medicine, Pusan, Krorea.
  • 3Department of Clinical Pathology, Pusan Adventist Hospital, Busan, Korea.
  • 4Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

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.

Keyword

Rhabdomyosarcoma; Leukemic presentation; Tumor cytogenetics; t(2;13) (q35;q14); FISH

MeSH Terms

Adolescent
Adult
Anemia
Bone Marrow*
Child
Cytogenetic Analysis
Cytogenetics*
Diagnosis
Female
Fluorescence
Humans
Immunophenotyping
In Situ Hybridization
Leukemia*
Metaphase
Paint
Rhabdomyosarcoma*
Rhabdomyosarcoma, Alveolar
Thrombocytopenia
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