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Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia - a case report
Background:
Fanconi's anemia (FA) is an inherited bone marrow failure syndrome that carries a higher risk of transformation to acute myeloid leukemia (AML) when compared with general population. AML is the initial presentation in approximately one third of patients.
Case Presentation:
A 17 year old male presented to the emergency room with history of high grade fever since two weeks. Examination revealed pallor, short stature and thumb polydactyly. There was no visceromegaly or lymphadenopathy. Complete blood count showed haemoglobin 3.4 gm/dl, MCV 100 fl and MCH 36 pg, white blood cell count 55.9 × 10 E9/L and platelet count 8 × 10E9/L. Peripheral blood smear revealed 26% blast cells. Bone marrow was hypercellular exhibiting infiltration with 21% blast cells. Auer rods were seen in few blast cells. These findings were consistent with acute myelomonocytic leukemia. These blasts cells expressed CD33, CD13, HLA-DR, CD117, CD34 antigens and cytoplasmic myeloperoxidase on immunophenotyping. Bone marrow cytogenetics revealed 46, XY, t (8:21) (q22; q22) [11] / 46, XY, add (2) (q37), t (8; 21) [4] / 46, XY [5]. Molecular studies showed positivity of FLT 3 D835 variant and negativity of NPM 1 and FLT3 ITD (internal tandem domain) mutation. Peripheral blood analysis for chromosomal breakage exhibited tri-radial and complex figures. He received induction chemotherapy with cytarabine and daunorubicin (3 + 7). Day 14 marrow revealed clearance of blast cells.
Conclusion:
The recognition of specific cytogenetic abnormalities present in FA known to predispose to AML is crucial for early haematopoietic stem cell transplant (HSCT) before transformation to leukemia.
Insights
Fanconi anemia (FA) patients have a higher risk of acute myeloid leukemia (AML). Early recognition of cytogenetic abnormalities in FA is key for timely hematopoietic stem cell transplant (HSCT) to prevent leukemia.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Fanconi anemia (FA) is an inherited bone marrow failure syndrome.
- FA significantly increases the risk of developing acute myeloid leukemia (AML) compared to the general population.
- AML presents initially in about one-third of FA patients.
Observation:
- A 17-year-old male with FA presented with high fever, pallor, short stature, and thumb polydactyly.
- Blood counts revealed severe anemia, leukocytosis with 26% blasts, and thrombocytopenia.
- Bone marrow examination showed hypercellularity with 21% myeloblasts, Auer rods, and specific immunophenotypic markers consistent with acute myelomonocytic leukemia.
Findings:
- Cytogenetic analysis revealed a 46,XY, t(8;21)(q22;q22) abnormality, a known predisposing factor in FA.
- Molecular studies were positive for FLT3 D835 variant but negative for NPM1 and FLT3 ITD mutations.
- Peripheral blood analysis demonstrated chromosomal breakage, characteristic of FA.
Implications:
- Early identification of cytogenetic abnormalities in FA is crucial.
- Timely hematopoietic stem cell transplant (HSCT) before leukemic transformation can improve outcomes for FA patients.
- This case highlights the importance of integrating genetic and hematologic findings for proactive management of FA-associated AML risk.
