Bérgamo Nádia Aparecida, da Silva Veiga Luciana Caricati, dos Reis Patricia Pintor, Nishimoto Inês Nobuko, Magrin José, Kowalski Luiz Paulo, Squire Jeremy A, Rogatto Sílvia Regina
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.
Clin Cancer Res. 2005 Jan 15;11(2 Pt 1):621-31.
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.
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.
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.
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.
头颈部肿瘤的基因生物标志物有助于区分临床和组织病理学特征相似但生存概率不同的患者。本研究旨在调查头颈部癌的染色体改变，并将结果与临床和流行病学变量相关联。
对64例未经治疗的原发性头颈部鳞状细胞癌的短期培养物进行细胞遗传学分析，以确定染色体畸变的总体模式。通过光谱核型分析和/或验证性荧光原位杂交分析对一组具有代表性的肿瘤进行详细分析。
观察到染色体Y（26例）和19（14例）的反复缺失，以及染色体22（23例）、8和20（各11例）的增加。最常见的结构畸变是del(22)(q13.1)，其次是涉及6q和12p的重排。发现特定细胞遗传学畸变的存在与不良预后显著相关。生存与染色体10（P = 0.008）和20（P = 0.002）的增加以及染色体15（P = 0.005）和22（P = 0.021）的缺失之间存在显著关联。单变量分析表明，获得单体17是有癌症家族史患者的一个显著（P = 0.0012）因素。
本研究中发现的显著关联强调，基因组不同区域的改变可能是预后不良的基因生物标志物。染色体17和22的缺失可能与癌症家族史有关。
