Saada-Bouzid Esma, Milano Gérard, Thariat Juliette
Centre Antoine-Lacassagne, département d'oncologie médicale, 33, avenue de Valombrose, 06189 Nice, France; Centre Antoine-Lacassagne, laboratoire d'onco-pharmacologie, 33, avenue de Valombrose, 06189 Nice, France.
Centre Antoine-Lacassagne, laboratoire d'onco-pharmacologie, 33, avenue de Valombrose, 06189 Nice, France.
Bull Cancer. 2018 Sep;105(9):820-829. doi: 10.1016/j.bulcan.2018.05.011. Epub 2018 Jun 22.
Squamous cell carcinomas are the most frequent subgroup among head and neck malignant tumors (HNSCC). Tobacco (±alcohol) and HPV infection, the two main risk factors, define two entities with distinct anatomo-clinical and genetic features. HPV-positive, non-tobacco-related HNSCCs are associated with a better prognosis, a rather simple genomic profile, frequent activating mutations of genes involved in pi3kinase-pathway, and the scarcity of mutations of tumor suppressor genes. HPV-negative, tobacco-related HNSCC are genetically more complex, are characterized by almost mandatory inactivating mutations/deletions of tumor suppressor genes (TP53, CDKN2A) and the possible, but less frequent, activating mutations or amplifications of some oncogenes that encode for cell cycle proteins or receptors with tyrosine kinase activity. This review describes the genetic features of HNSCC and discusses how these abnormalities could be incorporated into a therapeutic approach.
鳞状细胞癌是头颈部恶性肿瘤（HNSCC）中最常见的亚组。烟草（±酒精）和人乳头瘤病毒（HPV）感染这两个主要危险因素，定义了具有不同解剖临床和遗传特征的两个实体。HPV阳性、与烟草无关的HNSCC预后较好，基因组图谱相对简单，参与pi3激酶途径的基因频繁发生激活突变，且肿瘤抑制基因的突变较少。HPV阴性、与烟草相关的HNSCC在基因上更为复杂，其特征是肿瘤抑制基因（TP53、CDKN2A）几乎必然发生失活突变/缺失，以及一些编码细胞周期蛋白或具有酪氨酸激酶活性受体的癌基因可能发生激活突变或扩增，但频率较低。本综述描述了HNSCC的遗传特征，并讨论了如何将这些异常纳入治疗方法。
