Abstract
Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). FA patients may also display a low tolerance to oncologic treatments. The authors present a case of mandibular squamous cell carcinoma in a young FA patient. Because of the aggressive nature of the SCC and complex treatment options, we recommend a strict lifelong follow-up for all FA patients to detect early changes in the oral mucosa.
Highlights
Fanconi anemia (FA) is a rare genetic disorder with an estimated prevalence of 1 : 160 000 at birth
The disease is characterized by progressive bone marrow failure, hyperpigmentation, pancytopenia, predisposition to both solid tumors and hematological malignancies, and different kinds of congenital malformations [1,2,3]
Majority of the tumors are oral squamous cell carcinomas (OSCC), and the patients are unusually young at disease presentation [3]
Summary
Fanconi anemia (FA) is a rare genetic disorder with an estimated prevalence of 1 : 160 000 at birth. It is inherited mainly via an autosomal recessive pathway [1]. The disease is characterized by progressive bone marrow failure, hyperpigmentation, pancytopenia, predisposition to both solid tumors and hematological malignancies (i.e., acute myeloid leukemia), and different kinds of congenital malformations [1,2,3]. Majority of the tumors are oral squamous cell carcinomas (OSCC), and the patients are unusually young at disease presentation [3]. Considering the cumulative risk of carcinoma development and increased survival in FA, frequency of OSCCs associated with this rare disorder can be expected to increase in the future [3,4,5]
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