头颈部癌症的西班牙家族遗传连锁分析。

Genetic linkage analysis of head and neck cancer in a Spanish family.

机构信息

Oral Medicine, Oral Surgery and Implantology Unit, Faculty of Medicine and Dentistry, Santiago de Compostela University, Santiago de Compostela, Spain.

Institute of Health Research Institute of Santiago (IDIS), Santiago de Compostela, Spain.

出版信息

Oral Dis. 2024 Apr;30(3):1032-1039. doi: 10.1111/odi.14572. Epub 2023 May 1.

DOI:10.1111/odi.14572

PMID:37026679

Abstract

OBJECTIVES

To describe the genetic variants that may be associated with the development of head and neck cancer (HNC) and functionally validating the molecular implications.

MATERIALS AND METHODS

A prospective observational study was carried out on a family of 3 generations in which 3 members had developed HNC. Peripheral blood sample was taken in a routine procedure for exome sequencing in one relative and genotyping in the remaining twelve relatives. For the functional analysis all-trans retinoic acid (atRA) was extracted from saliva and serum and measured using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The presence of HPV-DNA.

RESULTS

None of the patients smoked or consumed alcohol. The presence of HPV DNA was not detected in any of the biopsied samples. A total amount of 6 members out of 13 (46.15%) carried out the same mutation of CYP26B1 (2p13.2; G>T). The mean plasma concentration of atRA was 3.3109 ± 1.4791 pg/mL for the study family and 4.7370 ± 1.5992 pg/mL for the controls (p = 0.042).

CONCLUSION

Lower levels of atRA were confirmed in the study family, which may open the way to the possible relationship between the polymorphism CYP26B1 (2p13.2; G>T) and HNC.

摘要

目的

描述可能与头颈部癌症（HNC）发展相关的遗传变异，并对其分子影响进行功能验证。

材料和方法

对一个有 3 代家族进行了前瞻性观察研究，其中有 3 名成员患有 HNC。对 1 名亲属进行常规外周血样本采集，用于外显子组测序，对其余 12 名亲属进行基因分型。为了进行功能分析，从唾液和血清中提取全反式视黄酸（atRA），并使用超高效液相色谱-串联质谱（UPLC-MS/MS）进行测量。检测 HPV-DNA 的存在。

结果

所有患者均不吸烟或饮酒。在任何活检样本中均未检测到 HPV DNA 的存在。在 13 名成员中，共有 6 名（46.15%）携带 CYP26B1（2p13.2；G>T）的相同突变。研究家族的 atRA 平均血浆浓度为 3.3109±1.4791pg/mL，对照组为 4.7370±1.5992pg/mL（p=0.042）。