Journal
CANCER MANAGEMENT AND RESEARCH
Volume 13, Issue -, Pages 3145-3154Publisher
DOVE MEDICAL PRESS LTD
DOI: 10.2147/CMAR.S301582
Keywords
fanconi anemia; radiotherapy; cisplatin; head and neck squamous cell carcinoma; toxicity
Categories
Funding
- Department of Science and Technology of Sichuan Province [20YYJC3815, 20GJHZ0088]
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This case report describes a patient with Fanconi anemia who developed oral tongue cancer and experienced severe bone marrow failure after receiving cisplatin/radiation treatment. Genetic testing revealed novel mutations in the FANCA gene inherited from the patient's parents. Despite successful symptom relief with reduced-dose radiotherapy, the patient eventually died of disease progression.
Purpose: Fanconi anemia (FA) is a rare genetic disorder characterized by congenital anomalies, progressive bone marrow failure and high susceptibility to solid tumors, especially head and neck squamous cell carcinoma (HNSCC). Management of FA patients with head and neck cancer is a challenge due to increased risk of surgery, poor tolerance of chemotherapy, and severe myelotoxicity of radiotherapy. Patients and Methods: We present a case of a 33-year-old man with carcinoma of oral tongue (T1N2M0), who experienced prolonged and profound bone marrow failure as a consequence of concurrent cisplatin/radiation. The young patient who developed HNSCC without risk factors, the myelotoxicity after exposure to platinum-based agent cisplatin and the further evaluation of phenotypic characteristics raised suspicion of FA. Whole exome sequencing performed for the patient and parents ultimately established the diagnosis of FA. Results: Genetic testing in 23 FANC genes revealed two novel heterozygous mutations, c.367C>T and c.3971_3972delCGinsTT in FANCA gene of the patient, which were inherited from his father and mother, respectively. Radiotherapy with reduced dose has successfully alleviated the symptoms of tumor invasion and progression, and the radiation-related side effects were acceptable. Unfortunately, the patient eventually died of locoregional disease progression. Conclusion: This case highlights the importance of considering the diagnosis of FA in young patients who develop HNSCC in the absence of risk factors, thus permitting more effective oncological treatment strategies and improved outcomes. In conclusion, any decision on different modalities of management in such patients should be based on a balance between locoregional control and therapeutic toxicity.
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