Classic and molecular cytogenetic analyses reveal chromosomal gains and losses correlated with survival in head and neck cancer patients.
OBJECTIVE
Genetic biomarkers of head and neck tumors could be useful for distinguishing among patients with similar clinical and histopathologic characteristics but having differential probabilities of survival. The purpose of this study was to investigate chromosomal alterations in head and neck carcinomas and to correlate the results with clinical and epidemiologic variables.


METHODS
Cytogenetic analysis of short-term cultures from 64 primary untreated head and neck squamous cell carcinomas was used to determine the overall pattern of chromosome aberrations. A representative subset of tumors was analyzed in detail by spectral karyotyping and/or confirmatory fluorescence in situ hybridization analysis.


RESULTS
Recurrent losses of chromosomes Y (26 cases) and 19 (14 cases), and gains of chromosomes 22 (23 cases), 8 and 20 (11 cases each) were observed. The most frequent structural aberration was del(22)(q13.1) followed by rearrangements involving 6q and 12p. The presence of specific cytogenetic aberrations was found to correlate significantly with an unfavorable outcome. There was a significant association between survival and gains in chromosomes 10 (P = 0.008) and 20 (P = 0.002) and losses of chromosomes 15 (P = 0.005) and 22 (P = 0.021). Univariate analysis indicated that acquisition of monosomy 17 was a significant (P = 0.0012) factor for patients with a previous family history of cancer.


CONCLUSIONS
The significant associations found in this study emphasize that alterations of distinct regions of the genome may be genetic biomarkers for a poor prognosis. Losses of chromosomes 17 and 22 can be associated with a family history of cancer.
Bérgamo
Nádia Aparecida
NA
Department of Genetics, Institute of Biosciences and NeoGene Laboratory, Department of Urology, Faculty of Medicine, São Paulo State University, CEP 18618-999, Rua Botucatu, São Paulo, Brazil.
da Silva Veiga
Luciana Caricati
LC
dos Reis
Patricia Pintor
PP
Nishimoto
Inês Nobuko
IN
Magrin
José
J
Kowalski
Luiz Paulo
LP
Squire
Jeremy A
JA
Rogatto
Sílvia Regina
SR
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000401:mortality; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D003582:Cytogenetics; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000401:mortality; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D009367:Neoplasm Staging; D011379:Prognosis; D032681:Spectral Karyotyping; D015996:Survival Rate
D004273:DNA, Neoplasm