Zusammenfassung
Fanconi anaemia (FA) is a rare genetic syndrome characterized by progressive pancytopenia, variably expressed congenital abnormalities and susceptibility, amongst others, to solid tumours. Early detection by oral health professionals of a pathological process can have a critical impact on the clinical course of that condition. In this paper we report the case of a 27-year-old male patient with ...
Zusammenfassung
Fanconi anaemia (FA) is a rare genetic syndrome characterized by progressive pancytopenia, variably expressed congenital abnormalities and susceptibility, amongst others, to solid tumours. Early detection by oral health professionals of a pathological process can have a critical impact on the clinical course of that condition. In this paper we report the case of a 27-year-old male patient with tonsillar squamous cell carcinoma (cT4 cN2b cM0 G3) associated with FA. Due to the locally advanced growth of the tumour and the poor systemic condition we ruled out primary surgery and settled for primary radio- and chemotherapy. Given the poor clinical course a focus on the aspect of secondary prevention is reasonable, given that it is known that patients with FA are at higher risk of developing malignancy than the general population. A multi-disciplinary approach is necessary in which the prevention of, surveillance for and the treatment of malignancies are important aspects of management and may improve disease-free survival.
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