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Acute lymphoblastic leukemia in a child with Fanconi's anaemia
Naureen Mushtaq1, Rabia Wali, Zehra Fadoo
1Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan. naureen.mushtaq@aku.edu
Insights
Fanconi anaemia (FA) transformed into acute lymphoblastic leukemia (ALL) is a rare event. This case highlights the challenges in managing FA patients with ALL, emphasizing the need for careful treatment strategies.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Fanconi anaemia (FA) is a rare autosomal recessive disorder characterized by bone marrow failure and increased cancer risk.
- Hematological malignancies, such as acute myeloid leukemia and myelodysplastic syndrome, are common in FA patients.
- Transformation of FA into acute lymphoblastic leukemia (ALL) is exceptionally rare.
Observation:
- A 13-year-old girl with diagnosed FA and chromosomal breakage presented with a rare complication.
- She required frequent blood transfusions and faced challenges with hematopoietic stem cell transplantation (HSCT) due to donor-related chromosomal abnormalities.
- Peripheral smear and bone marrow examination confirmed pre-B ALL.
Findings:
- The patient developed pre-B acute lymphoblastic leukemia (ALL), a rare transformation in Fanconi anaemia.
- Treatment with chemotherapy led to complications and the patient's demise.
- The case underscores the complexity of managing rare hematological malignancies in FA.
Implications:
- This case emphasizes the critical need for conservative management approaches in FA patients.
- Developing safe and effective chemotherapy regimens for FA patients with ALL is crucial.
- Further research into the mechanisms of leukemogenesis in FA is warranted to improve patient outcomes.
Abstract:
Fanconi anaemia (FA) is an autosomal recessive inherited disorder with progressive bone marrow failure, associated congenital malformation and solid and haematological malignancies. Acute myeloid leukemia is the commonest haematological malignancy followed by myelodysplastic syndrome in children with FA. FA transformed into acute lymphoblastic leukemia (ALL) is a rare phenomenon and one of the rarest haematological malignancies associated with this disorder. We are reporting a 13 years old girl with FA and positive chromosomal breakage. She required regular blood product transfusion. She was planned for haematopoietic stem cell transplantation (HSCT) but the sibling-matched donor was found to have chromosomal breaks as well. Later on, her peripheral smear showed blast cell. Bone marrow showed pre-B ALL. She was started on chemotherapy but died shortly due to complications of the treatment. For this rare condition conservative management is indeed essential, however, safe and appropriate chemotherapy regimen is needed.
