Rare cytogenetic abnormalities in MDS evolving from fanconi anemia-A case report

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Case Report

Author Details : Nidhi Rajendra*, Subbaiah Ramanathan, Vishal Ashok, Srivalli BS

Volume : 7, Issue : 4, Year : 2022

Article Page : 252-254

https://doi.org/10.18231/j.jdpo.2022.059

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Abstract

Fanconi anemia (FA) is a genetically heterogenous rare autosomal recessive disorder. Mutations in FANCA gene are the most frequent among FA patients accounting for 60-65%. FA is characterised by congenital malformations, progressive bone marrow failure (BMF) and increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The risk of developing hematological abnormalities in FA patients is around 98% by 40 years of age. The risk of clonal cytogenetic abnormalities during BMF is around 67% by 30 years of age and risk of developing MDS or AML is 52% by 40 years of age. The frequent chromosomal abnormalities are 1q+, monosomy 7 and gains of 3q. Partial duplications/triplications of chromosome 1q are known to represent a nonrandom chromosomal anomaly in myeloid disorders.

Keywords: Fanconi anemia (FA), inherited bone marrow failure syndrome (IBMFS), Myelodysplastic syndrome (MDS)

How to cite : Rajendra N, Ramanathan S, Ashok V, Srivalli Bs, Rare cytogenetic abnormalities in MDS evolving from fanconi anemia-A case report. IP J Diagn Pathol Oncol 2022;7(4):252-254

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