Recurrences and second primary tumours in the head and neck region: Differentiation by p53 mutation analysis

• Published in: Annals of oncology 1995-11, Vol.6 (9), p.933-939
• Main Authors: Gasparotto, D., Maestro, R., Barzan, L., Vukosavljevic, T., Doglioni, C., Sulfaro, S., Piccinin, S., Boiocchi, M.
• Format: Article
• Language: English
• Subjects: Adult; Aged; Base Sequence; Biological and medical sciences; Diagnosis, Differential; DNA Mutational Analysis; DNA, Neoplasm - analysis; Esophageal Neoplasms - genetics; Esophageal Neoplasms - pathology; Female; Genes, p53 - genetics; head and neck cancers; Head and Neck Neoplasms - genetics; Head and Neck Neoplasms - pathology; Humans; Immunohistochemistry; Laryngeal Neoplasms - genetics; Laryngeal Neoplasms - pathology; Male; Medical sciences; Middle Aged; Molecular Sequence Data; multiple primary tumours; Neoplasm Recurrence, Local - genetics; Neoplasm Recurrence, Local - pathology; Neoplasms, Second Primary - genetics; Neoplasms, Second Primary - pathology; Otorhinolaryngology (head neck, general aspects and miscellaneous); Otorhinolaryngology. Stomatology; p53; Polymerase Chain Reaction; recurrence; Sensitivity and Specificity; Tongue Neoplasms - genetics; Tongue Neoplasms - pathology; Tumors
• ISSN: 0923-7534; 1569-8041
• DOI: 10.1093/oxfordjournals.annonc.a059362

Background Patients with head and neck cancer are at high risk of developing additional primary tumours in the aero-digestive tract as a result of field cancerization phenomena. In this context, the appearance of a new neoplasm often poses a problem of differential diagnosis between recurrence and new primary tumour. The differentiation between the two entities is essentially clinical and conventionally based on the histological and spatio-temporal relations between the two lesions; however, the validity of these criteria has still to be assessed Design To evaluate whether field cancerization phenomena may affect the clinical diagnosis of relapse/metastasis in the head and neck region, p53 mutation pattern was analysed in a series of primary tumours and corresponding recurrences/metastases. The rationale was that, since p53 mutations are a very early and polymorphic phenomenon, a recurrence/metastasis must retain the same mutation as the primary tumour, whereas independent tumours are likely to display a different p53 gene status. Results Molecular analysis provided conclusive results in 9 of 12 cases analysed. The clinical diagnosis of recurrence was confirmed by molecular analysis in 4 of these cases. In contrast, a differential p53 mutation pattern supported an independent origin for 3 presumed local recurrences and 2 lung lesions. Conclusions The use of p53 mutation analysis as a clonality marker allowed us to ascertain the inadequacy of the current diagnostic criteria for the differentiation between a new independent tumour and recurrence/metastasis. These findings substantiate the relevance of field cancerization phenomena in the head and neck region and prompt the use of p53 mutation analysis as a fundamental tool to improve the diagnosis and management of head and neck cancers.