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

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.

• Authors: Swasti Sinha, Manorama Bhargava
• Journal: Indian journal of medical and paediatric oncology : official journal of Indian Society of Medical & Paediatric Oncology (Indian J Med Paediatr Oncol) Vol. 34 Issue 4 Pg. 305-8 (Oct 2013) ISSN: 0971-5851 [Print] Germany
• PMID: 24604962 (Publication Type: Case Reports)