Successful treatment of esophageal squamous cell carcinoma in a patient with Fanconi anemia.

Fanconi anemia is a congenital syndrome characterized by hypoplasia of bone marrow and the development of aplastic anemia in childhood, followed by myelodysplastic syndrome and acute myelogenous leukemia in later life. We report here a patient first diagnosed with Fanconi anemia at age 10. Bone marrow transplantation was performed at age 23 and repeated after an episode of rejection at age 25. Hematologic findings returned to normal, but chronic graft-versus-host disease persisted. Esophageal cancer developed at age 35. Invasion of the bronchus and aorta by the tumor was suspected on computed tomography. Chemoradiotherapy was administered to down-stage the tumor, using low-dose cisplatin and 5-fluorouracil. After two courses of chemotherapy with cisplatin (total dose, 100 mg) and 5-fluorouracil (5000 mg) plus radiotherapy (30 Gy), Grade 3 diarrhea and bone marrow suppression developed, and treatment was discontinued. After resolution of toxicity, a good response to the neoadjuvant therapy was seen on computed tomography scan, and a subtotal esophagectomy was performed which demonstrated a complete response in the resected specimen. However, tongue cancer developed at age 40 years, and hemiglossectomy was performed. Patients with Fanconi anemia have a high risk of developing esophageal cancer while they are still young. Reduced doses of alkylating agents and radiotherapy are used in patients with Fanconi anemia. However, the optimal dosage of chemoradiotherapy and the treatment strategy for esophageal cancer in patients with Fanconi anemia remain unclear, and outcomes are generally extremely poor. In this patient, esophageal cancer associated with Fanconi anemia responded well to multidisciplinary therapy.