Predictive genomic medicine enlarges the spectrum of predisposing mutations for head and neck cancers via a panel of 56 genes selected for human neoplasia in Southern Italy: a pilot study.

IF 3.7 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY
Federica Di Maggio, Giulia Togo, Ettore Pavone, Alessandra Calabrese, Petra Claudia Camilla D'Orsi, Maria Luisa Marciano, Giovanni Marino, Franco Ionna, Francesco Salvatore, Marcella Nunziato
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引用次数: 0

Abstract

Objectives: Oral squamous cell carcinoma (OSCC) is the most prevalent form of squamous cell carcinomas of the head and neck (SCCHN), accounting for over 90 % of all oral cavity malignancies (approximately 275,000 new cases are worldwide diagnosed annually). Early-stage oral squamous cell carcinoma (T1 and T2) has a 5-year survival rate of up to 80 %. Survival rates decrease to 20-30 % at later stages (T3-T4). Each year, there are between 275,000 and 300,000 new cases of OSCC, and over 150,000 deaths worldwide. OSCC are usually non-hereditary tumors, although familial epidemiology has been recently reported.

Methods: From 2022 to 2024, we enrolled 56 patients from the complex structure of maxillofacial surgery and ORL, National Cancer Institute - IRCCS - Fondazione G. Pascale. The individuals enrolled underwent molecular testing via a multigene panel of 56 genes related to cancer predisposition customized in our laboratory. The panel included BRCA1 and BRCA2.

Results: We identified a total of 7 pathogenic mutations annotated in clinical databases as ClinVar, in BRCA2 (two different variants), BRCA1, MUTYH, BRIP1, FANCM and FANCC genes (approximately 12.5 % of our patients). The results show a frequent predisposition to head and neck tumors similar to or even greater than that observed in other types of neoplasia, such as breast and ovarian cancers or colon cancer), with a predisposition of approximately 10 %.

Conclusions: Our results confirm that, similarly to other more studied tumors, predictive genomic medicine can play a crucial role in the early identification of germline mutations in head and neck cancers. This approach should be considered for the early detection of OSCC particularly for individuals at increased risk, e.g., those with a family history of the disease, who may also be candidates for targeted molecular therapies based on their genetic profile.

预测性基因组医学扩大了头颈癌易感突变的范围,通过一个由56个基因组成的小组选择了意大利南部的人类肿瘤:一项试点研究。
目的:口腔鳞状细胞癌(OSCC)是头颈部鳞状细胞癌(SCCHN)最常见的形式,占所有口腔恶性肿瘤的90% %以上(全球每年约有275,000例新诊断病例)。早期口腔鳞状细胞癌(T1和T2)的5年生存率高达80% %。晚期(T3-T4)生存率降至20-30 %。全世界每年有27.5万至30万OSCC新发病例,死亡人数超过15万。OSCC通常是非遗传性肿瘤,尽管最近有家族流行病学报道。方法:从2022年到2024年,我们从复杂结构的颌面外科和ORL,国家癌症研究所- IRCCS - Pascale基金会纳入56例患者。入选的个体通过我们实验室定制的56个与癌症易感性相关的基因多基因面板进行了分子检测。该小组包括BRCA1和BRCA2。结果:我们在临床数据库中共鉴定出7种致病突变为ClinVar,分别为BRCA2(两种不同的变体)、BRCA1、MUTYH、BRIP1、FANCM和FANCC基因(约占患者的12. %)。结果显示,头颈部肿瘤的易感性与其他类型的肿瘤(如乳腺癌、卵巢癌或结肠癌)相似,甚至更高,易感性约为10% %。结论:我们的研究结果证实,与其他更多研究的肿瘤类似,预测性基因组医学可以在头颈癌种系突变的早期识别中发挥关键作用。这种方法应该被考虑用于早期发现OSCC,特别是对于风险增加的个体,例如,那些有该疾病家族史的人,他们也可能是基于其遗传谱的靶向分子治疗的候选人。
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来源期刊
Clinical chemistry and laboratory medicine
Clinical chemistry and laboratory medicine 医学-医学实验技术
CiteScore
11.30
自引率
16.20%
发文量
306
审稿时长
3 months
期刊介绍: Clinical Chemistry and Laboratory Medicine (CCLM) publishes articles on novel teaching and training methods applicable to laboratory medicine. CCLM welcomes contributions on the progress in fundamental and applied research and cutting-edge clinical laboratory medicine. It is one of the leading journals in the field, with an impact factor over 3. CCLM is issued monthly, and it is published in print and electronically. CCLM is the official journal of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) and publishes regularly EFLM recommendations and news. CCLM is the official journal of the National Societies from Austria (ÖGLMKC); Belgium (RBSLM); Germany (DGKL); Hungary (MLDT); Ireland (ACBI); Italy (SIBioC); Portugal (SPML); and Slovenia (SZKK); and it is affiliated to AACB (Australia) and SFBC (France). Topics: - clinical biochemistry - clinical genomics and molecular biology - clinical haematology and coagulation - clinical immunology and autoimmunity - clinical microbiology - drug monitoring and analysis - evaluation of diagnostic biomarkers - disease-oriented topics (cardiovascular disease, cancer diagnostics, diabetes) - new reagents, instrumentation and technologies - new methodologies - reference materials and methods - reference values and decision limits - quality and safety in laboratory medicine - translational laboratory medicine - clinical metrology Follow @cclm_degruyter on Twitter!
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