Open Access Research article

Chromosomal aberrations and aneuploidy in oral potentially malignant lesions: distinctive features for tongue

Patrizio Castagnola1, Davide Malacarne1, Paola Scaruffi24*, Massimo Maffei1, Alessandra Donadini1, Emanuela Di Nallo1, Simona Coco2, Gian Paolo Tonini2, Monica Pentenero3, Sergio Gandolfo3 and Walter Giaretti1

Author Affiliations

1 Department of Diagnostic Oncology, Biophysics and Cytometry, National Institute for Cancer Research, Genoa, Italy

2 Department of Diagnostic Oncology, Translational Oncopathology, National Institute for Cancer Research, Genoa, Italy

3 Department of Clinical and Biological Sciences, Oral Medicine and Oral Oncology Section, University of Turin, Italy

4 Center of Physiopathology of Human Reproduction, Dept. Obstetrics and Gynecology, "San Martino" Hospital, Genoa, Italy

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BMC Cancer 2011, 11:445  doi:10.1186/1471-2407-11-445

Published: 13 October 2011



The mucosae of the oral cavity are different at the histological level but appear all equally exposed to common genotoxic agents. As a result of this exposure, changes in the mucosal epithelia may develop giving rise to Oral Potentially Malignant Lesions (OPMLs), which with time may in turn progress to Oral Squamous Cell Carcinomas (OSCCs). Therefore, much effort should be devoted to identify features able to predict the likeliness of progression associated with an OPML. Such features may be helpful in assisting the clinician to establish both appropriate therapies and follow-up schedules. Here, we report a pilot study that compared the occurrence of DNA aneuploidy and chromosomal copy number aberrations (CNAs) in the OPMLs from different oral anatomical subsites.


Samples from histologically diagnosed OPMLs were processed for high resolution DNA flow cytometry (hr DNA-FCM) in order to determine the relative DNA content expressed by the DNA index (DI). Additionally, array-Comparative Genomic Hybridization (a-CGH) analysis was performed on DNA obtained from diploid nuclei suspensions directly. When aneuploid nuclei were detected, these were physically separated from diploid nuclei on the base of their DI values by means of a DNA-FCM-Sorter in order to improve the a-CGH analysis.


Tongue OPMLs were more frequently associated with DNA aneuploidy and CNAs than OPMLs arising from all the other mucosal subsites.


We suggest that the follow-up and the management of the patients with tongue OPMLs should receive a distinctive special attention. Clearly, this hypothesis should be validated in a prospective clinical study.