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CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2013; 34(04): 305-308
DOI: 10.4103/0971-5851.125251
CASE REPORT

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

Swasti Sinha
Department of Hematology, Super-specialty and Research Block, Sir Ganga Ram Hospital, New Delhi, India
,
Manorama Bhargava
Department of Hematology, Super-specialty and Research Block, Sir Ganga Ram Hospital, New Delhi, India
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Abstract

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.

Keywords

Acute myeloid leukemia - chromosomal breaks fanconi - cytogenetics - flowcytometric immunophenotyping - hypocellular - mitomycin C


Publication History

Article published online:
19 July 2021

© 2013. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)

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