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Indian Journal of Medical and Paediatric Oncology
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Year : 2013  |  Volume : 34  |  Issue : 4  |  Page : 305-308

Fanconi anemia presenting as an "evolving" acute leukemia-diagnostic challenges

Department of Hematology, Super-specialty and Research Block, Sir Ganga Ram Hospital, New Delhi, India

Correspondence Address:
Swasti Sinha
Department of Hematology, Super-speciality and Research Block, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi - 110 060
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-5851.125251

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Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia and predisposition to both hematologic malignancies and solid tumors. We report, a 14-year-old boy who presented with clinical features of aplastic anemia (AA). Subsequent bone marrow examination and multiparametric flowcytometric immunophenotyping revealed an evolving hypoplastic acute myeloid leukemia. Chromosomal breakage studies using clastogenic agent mitomycin C showed 88% stress induced chromosomal/chromatid breaks, gaps and rearrangements revealing an underlying FA. The case emphasizes upon the role of a systematic clinico-investigative approach in diagnosing such patients who by clinical criteria appear to have idiopathic AA and appear phenotypically normal. A timely and accurate diagnosis becomes vital in these cases to implement appropriate therapy.

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