Radiation Therapy in a Perineal Squamous Cell Carcinoma in a Patient With Fanconi Anemia: A Case Report and Review of Literature

摘要

Fanconi anemia (FA) is a rare genetic syndrome characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. 1 Life expectancy for patients with FA used to be very poor, with death typically supervening between 20 and 30 years of age, but bone marrow transplantation has trans- formed the prognosis: most patients with FA now live for more than 30 years after transplantation. 2 The condition is caused by a defect in 1 of the proteins of the FA pathway, which in the healthy individual governs homologous recombination repair and translesion bypass in response to DNA covalent linkage induced by cross-linking agents. 3 The defective proteins prevent DNA damage from being correctly repaired, which leads to increased chromosomal instability and the predisposition to malig- nant disease (mostly squamous cell carcinomas [SCCs] and acute myeloid leukemia). Every cell in the body of a patient with FA is thus also exquisitely sensitive to radi- ation therapy, and to chemotherapies such as mitomycin C and cisplatin, which induce covalent linkages, so severe toxicity must be anticipated should these therapies be deployed.