Publications

Introduction: Fanconi anemia (FA) is an autosomal recessive syndrome characterized by genomic instability. It is associated with an increased susceptibility to develop leukemias, especially acute myeloid leukemia (AML). The usual period of development of AML is the late teenage years or young adulthood. AML in the setting of FA is associated with a grave prognosis.

Case report: In an eight-year-old boy who was diagnosed with FA seven months back, blast cells in peripheral blood were detected following a respiratory illness. Physical examination revealed polydactyly, hyperpigmentation of the tongue, café au lait macules and hepatosplenomegaly. Bone marrow morphology and flow cytometry were performed, which suggested the diagnosis of AML M4. After providing initial supportive measures, induction chemotherapy was started with Daunorubicin and Cytarabine. After induction, febrile neutropenia ensued, which was treated with multiple antibiotics and supportive measures. Despite these efforts, the child succumbed one month after starting chemotherapy.

Discussion: AML in the setting of FA is associated with an increased susceptibility to toxicity caused by chemotherapeutic agents due to their inherent DNA instability. Consequently, significant toxicity and prolonged periods of aplasia can develop following chemotherapy, resulting in a dismal outcome in these patients. Literature reviews show that newer and personalized treatment modalities like sequential chemotherapy followed by Hematopoietic Stem Cell Transplant can be attempted in these patients, which offer better outcomes. Our case report is unique since it depicts an early age of AML occurrence in the setting of FA and a short interval between their diagnoses.

Keywords: fanconi anemia, acute myeloid leukemia, chemotherapy, hematopoietic stem cell transplant