Infrequent genetic alterations of the tumor suppressor gene PTEN/MMAC1 in squamous cell carcinoma of the oral cavity.
BACKGROUND
Fifty tumor specimens from primarily untreated patients were analyzed to elucidate the involvement of the tumor suppressor gene PTEN/MMAC1 in the development of oral squamous cell cancer.


METHODS
Eight microsatellite markers, spanning 10 cM of genomic DNA located centromeric, telomeric or intragenic of PTEN/MMAC1 were used for loss of heterozygosity (LOH) and breakpoint analysis. The microsatellite panel within or in close proximity (1 cM) to the 10q23.3 locus showed a LOH rate of 12%. Complete sequence analysis of the genes coding region was performed in all 10 cases that exhibited LOH in one of the eight microsatellite markers within or around the PTEN/MMAC1 gene. Comparative multiplex PCR reactions served to screen for homozygous deletions.


RESULTS
There was no association between allelic loss of the gene, overall patient survival and recurrence-free survival. Sequencing did not reveal any mutation in the coding region of PTEN/MMAC1. Differential PCR analysis failed to detect any homozygous deletion.


CONCLUSIONS
We conclude that PTEN/MMAC1 gene alterations do not play a key role in tumorigenesis of oral squamous cell cancers.
Department of Oral Maxillofacial Surgery, University of Technology Dresden, Dresden, Germany.
A
A
Mavros
M
M
Hahn
I
I
Wieland
S
S
Koy
O N
ON
Koufaki
K
K
Strelocke
R
R
Koch
G
G
Haroske
H K
HK
Schackert
U
U
Eckelt
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002503:Centromere / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D018572:Disease-Free Survival; D005260:Female; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor / Q000502:physiology*; D005819:Genetic Markers / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D016014:Linear Models; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013223:Statistics as Topic; D018709:Statistics, Nonparametric; D015996:Survival Rate; D016615:Telomere / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D005819:Genetic Markers; D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human