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Published on: November 10, 2023
Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy
H Rama1, Devika Gupta1, Tathagata Chatterjee1
1Department of Pathology and Molecular Medicine, Army Hospital (Research & Referral), Dhaulakaun, New Delhi, 110010 India.
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).
Insights
Fanconi's Anemia, a rare genetic disorder causing bone marrow failure, can progress to acute myeloid leukemia. This case highlights Fanconi's Anemia with a rare monosomal karyotype, emphasizing diagnostic challenges.
Area of Science:
- Genetics
- Hematology
- Oncology
Background:
- Fanconi's Anemia (FA) is an autosomal recessive disorder.
- Characterized by congenital abnormalities and bone marrow failure.
- Increases risk for myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and solid tumors.
Observation:
- Patient presented with congenital deformities and pancytopenia.
- Bone marrow analysis and flow cytometry indicated MDS.
- Patient progressed to AML and died.
Findings:
- Diagnosis of Fanconi's Anemia confirmed.
- Rare association of Fanconi's Anemia with a monosomal karyotype.
- Demonstrated chromosomal instability via alkylating agent sensitivity.
Implications:
- Highlights the diagnostic utility of chromosomal breakage tests in FA.
- Underscores the aggressive progression of FA to AML.
- Emphasizes the prognostic significance of karyotype abnormalities in FA patients.
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