Successful Treatment of Esophageal Squamous Cell Carcinoma in a Patient with Fanconi Anemia

Abstract

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.

Medical anticancer treatment of lung cancer associated with comorbidities: A review

“…Carboplatin was administered at reduced dosages because Fanconi anemia cells are hypersensitive to DNA cross-linking agents. Similar approaches have been described in other tumours treated by chemotherapy [27][28][29]. Concerning sickle cell anemia associated to lung cancer, a case report [30] about a 34-year-old man previously known with the homozygous disease since the age of 8 years which had required multiple hospitalizations for pain crises, aplastic crisis, priapism and hepatitis, was diagnosed with bronchoalveolar cell carcinoma and treated with bleomycin, vinblastine and cisplatin.…”

Squamous Cell Carcinomas of the Head and Neck in Fanconi Anemia: Risk, Prevention, Therapy, and the Need for Guidelines

“…This was probably due to hypomorphic mutations [11,25] or reversions/mosaicism in the hematopoietic system [3]. As FA cells are hypersensitive to standard genotoxic treatment approaches including the mono- and bifunctional alkylators such as cisplatin, mitomycin C and cyclophosphamide as well as irradiation, undiagnosed FA patients will experience severe complications under standard HNSCC therapy and develop lethal treatment-associated toxicities [7,11,25,69]. …”

Squamous cell carcinoma development in Fanconi anemia patients who underwent hematopoietic stem cell transplantation

“…We observed 2 esophagus SCC cases after 18 and 19 years of HSCT, who died due to therapy complications. Hosoya et al referred a FA patient with esophageal SCC 10 years after HSCT; who demonstrated a complete response after neoadjuvant therapy and a subtotal esophagectomy 25 …”