Genetic relationship between multiple squamous cell carcinomas arising in the oral cavity

Lucio Montebugnoli, Elisa Leonardi, Luca Morandi, Anna Farnedi, Davide Bartolomeo Gissi, Claudio Marchetti, Achille Tarsitano, Tiziana Balbi, Luciano Gentile, Roberto Cocchi, Maria Pia Foschini

Research output: Contribution to journalArticlepeer-review


Background Histological and clinical criteria are generally used to differentiate second primary tumors (SPTs) from local recurrences. The purpose of the present study was to apply mitochondrial DNA (mtDNA) D-loop analysis to differentiate SPTs from local recurrences and to validate the clinical classification. Methods The study population consisted of 20 consecutive patients presenting multiple oral neoplastic lesions for a total of 25 paired lesions. The mtDNA D-loop analysis was performed by direct sequencing and phylogenetic clusterization. Results Agreement between mtDNA analysis and clinical classification was found in 19 cases. Discrepancies arose in 6 cases in which the clinical criteria based only on the spatial or temporal distance of the second lesion from the index tumor had led to a diagnosis of SPT (2 cases) or local recurrence (4 cases). Conclusion The present data highlight the value of mtDNA analysis in establishing the clonal relationship between the index tumor and the second neoplastic lesion.

Original languageEnglish
Pages (from-to)94-100
Number of pages7
JournalHead and Neck
Issue number1
Publication statusPublished - Jan 2014


  • clonality
  • mitochondrial DNA D-loop
  • multiple tumors
  • oral cancer
  • second primary tumor

ASJC Scopus subject areas

  • Otorhinolaryngology


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