Lymphoblastic lymphoma and excessive toxicity from chemotherapy: An unusual presentation for fanconi anemia

A 30-month-old boy presented with fryer, lymphadenopathy, hepatosplenomegaly, leukocytosis, and thrombocytopenia. A lymph node biopsy revealed the diagnosis of T-cell lymphoblastic lymphoma. The boy exhibited an extreme sensitivity to cytotoxic chemotherapy, which led to the diagnosis of Fanconi anemia (FA). A chromosomal fragility test showed excessive breakage and radial forms consistent with the diagnosis of FA. Refractory disease exhibiting an unusual translocation, t(11;14)(p13;q32), developed in the patient. Despite therapeutic interventions, the boy died of rapidly progressive disease. Lymphoid malignancies are very uncommon in patients with FA, but as this case demonstrates, they can be the first manifestation of this disorder. Patients with a hematologic malignancy who also manifest physical abnormalities associated with FA should he evaluated for FA before the initiation of chemotherapy. This case further shows the value in Looking for underlying chromosome fragility syndromes in normal-appearing children who experience excessive toxicity when treated with standard chemotherapy.