Abstract
BackgroundFanconi anemia (FA) is a rare genetic disorder characterized by congenital anomalies, progressive bone marrow failure and high susceptibility to various 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.MethodsWe present a case of a 33-year-old man with carcinoma of the 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 the 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.ResultsGenetic testing in the 23 FANC genes revealed two novel heterozygous mutations, c.367C>T (p.Gln123*) and c.3971_3972delCGinsTT (p.Pro13241.cu) 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 died of locoregional disease progression.ConclusionsThis 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 general, any decision on different modalities of management in such patients should be based on a balance between locoregional control and therapeutic toxicity.
Resident and bone marrow-derived mesenchymal stem cells in head and neck squamous cell carcinoma
