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Rama H, Gupta D, Chatterjee T, et al. Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy. Indian J Hematol Blood Transfus. 2014;30:379-82doi: 10.1007/s12288-014-0424-y.
Rama, H., Gupta, D., Chatterjee, T., & Gupta, S. (2014). Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, 30379-82. https://doi.org/10.1007/s12288-014-0424-y
Rama, H, et al. "Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy." Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion vol. 30 (2014): 379-82. doi: https://doi.org/10.1007/s12288-014-0424-y
Rama H, Gupta D, Chatterjee T, Gupta S. Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy. Indian J Hematol Blood Transfus. 2014 Sep;30:379-82. doi: 10.1007/s12288-014-0424-y. Epub 2014 Jul 01. PMID: 25332625; PMCID: PMC4192240.
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Indian J Hematol Blood Transfus. 2014 Sep;30:379-82. doi: 10.1007/s12288-014-0424-y. Epub 2014 Jul 01.

Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion

H Rama, Devika Gupta, Tathagata Chatterjee, Srishti Gupta

Affiliations

  1. Department of Pathology and Molecular Medicine, Army Hospital (Research & Referral), Dhaulakaun, New Delhi, 110010 India.

PMID: 25332625 PMCID: PMC4192240 DOI: 10.1007/s12288-014-0424-y

Abstract

Fanconi's Anemia is primarily an autosomal recessive genetic disorder characterized by congenital abnormalities, defective haematopoiesis leading to bone marrow failure and increased risk of development of Myelodysplastic syndrome, acute myeloid leukemia and solid tumours. Chromosomal instability can be demonstrated by breakage caused by alkylating agents and forms the basis of diagnosis. Our patient presented with structural deformities associated with features of bone marrow failure in form of pancytopenia. Bone marrow analysis and flow cytometry done on aspirate was suggestive of MDS. He subsequently progressed to frank acute myeloid leukemia and succumbed to the illness. The case is being reported for its rarity especially, Fanconi's Anemia associated with monosomal karyotype (one monosomy plus one more structural abnormality).

Keywords: AML; Chromosomal anomalies; Chromosomal breakage syndrome; Fanconi’s anemia

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