In order to define more clearly the role of chromosome 9 loss in head
and neck squamous cell carcinoma (HNSCC), 29 invasive carcinomas and 1
7 preinvasive lesions were analyzed for loss of heterozygosity (LOH) o
n chromosome 9. We found LOH in 21 of 29 (72%) HNSCC tumors using high
ly polymorphic microsatellite markers. In 17 of 21, LOH was found at a
ll informative sites on the p arm with no LOH of the q arm. Further ma
pping in tumors, with partial LOH of the 9p arm, localized a common re
gion of loss between markers D9S165 and D9S156. Deletion of this regio
n on chromosome 9 has been found in several other tumor types implying
the presence of a tumor suppressor gene at this locus. The inactivati
on of a tumor suppressor gene an chromosome 9p may represent the most
commonly described genetic alteration in HNSCC. A similar incidence of
allelic loss on chromosome 9p was identified in 12 of 17 (71%) preinv
asive lesions. The identical frequency of loss in preinvasive and inva
sive lesions suggests that loss of 9p is an early event in HNSCC progr
ession.