A FANCA mutation carrier with enhanced toxicity to cancer directed treatment - A case report and review of literature

Abstract

Chemotherapy and radiotherapy are backbones of cancer treatment. Genome instability syndromes are rare but an essential factor to be identified early in the treatment of malignancies. It can lead to the occurrence of multiple malignancies and impede treatment due to undue hypersensitivity, leading to extreme and often fatal toxicities. We, hereby, report a case of a middle-aged lady who was diagnosed with a carcinoma of the head and neck and planned for treatment with neoadjuvant chemotherapy followed by surgery or chemoradiation. However, she developed severe toxicity to all forms of treatment for cancer. Her gene-based panel screening test revealed a Fanconi anaemia, complementation group A (FANCA) gene abnormality which is associated with an autosomal recessive mode of inheritance. This case outlines the importance of considering the possibility and a high index of suspicion of a hereditary basis in cases of relatively early-onset malignancy before defining an oncological treatment strategy. The paucity of data except for case reports limits evidence-based management in such cases and requires a collective effort for treatment.