article · Journal of Medical Case Reports
This clinical report details the management of acute myeloid leukaemia in a six-year-old patient from northern Tanzania who also presented with sickle cell anaemia and clinical indications of Fanconi anaemia. The patient exhibited physical features including short stature, hand malformations, and multiple café-au-lait spots, alongside symptoms of recurrent fever, weight loss, and abdominal distension. Clinical investigations confirmed acute myeloid leukaemia and sickle cell anaemia. The patient underwent standard institutional induction therapy for the leukaemia, but the treatment failed to achieve remission. Following prognostic discussions, the care plan transitioned to home-based palliative care supplemented by hospital admissions for blood transfusions, with the patient passing away seven months after discharge. The report highlights that malignant transformation linked to underlying cancer predisposition syndromes presents severe therapeutic challenges, demanding alternative treatment strategies to improve clinical outcomes.
Treating aggressive blood cancers is exceptionally challenging when patients also suffer from genetic blood disorders and inherited cancer predisposition syndromes. Standard chemotherapy regimens may prove ineffective in these complex cases. Documenting these real-world treatment responses informs clinical decision-making and emphasizes the urgent necessity to explore alternative, tailored medical approaches that can improve survival rates and care standards in resource-constrained medical environments.
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BACKGROUND: The transformation of Fanconi anemia into a hematological malignancy is consistent with the natural history of the disease. Few cases have been reported on acute myeloid leukemia, and even fewer cases involving coexistence with sickle cell anemia. Acute myeloid leukemia development is postulated to follow a multihit hypothesis where preleukaemic cells progress into leukemia through a second promotional mutation. Fever is a predominant clinical presentation, with blasts usually observed on peripheral blood smear and the immunophenotype confirmed with flow cytometry. In this case report from Tanzania, we present a case of acute myeloid leukemia with a failed induction in a patient with Sickle cell anemia and suspected Fanconi anemia. CASE PRESENTATION: A 6-year-old Haya boy from northern Tanzania presented to Muhimbili National Hospital with a congenital malformation of the left hand, short stature, and multiple café-au-lait spots distributed over the trunk, face, and limbs. He had experienced recurrent fever for 8 months, accompanied by headache, weight loss, and abdominal distension. Laboratory evaluation confirmed acute myeloid leukemia and sickle cell anemia with clinically suspicious features of Fanconi anemia. The patient was initiated on institutional treatment for acute myeloid leukemia. He had a failed induction and subsequently transitioned to home-based palliative care after prognostic counseling with the family. Thereafter, he had several admissions, mostly for blood product support, and eventually died 7 months post-discharge. CONCLUSION: The onset of acute myeloid leukemia in this case could be attributed to a malignant transformation from an underlying cancer predisposition syndrome. Our particular focus was on the leukemia treatment response where we observed a failed induction, prompting the need for alternative treatment approaches in this category of patients with acute myeloid leukemia in order to realize better treatment outcomes.
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DOI: 10.1186/s13256-025-05458-x
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