1.Department of Respiratory Medicine, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015; 2.Department of Lab Center of Surgery, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015; 3.Department of Pathology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015
Abstract：Objective: To investigate the clinical iconographic characteristic, molecular patbologic test results and probable inherit susceptibility gene in a pedigree of familial aggregative lung cancer. Methods: According to family history of the proband, the pedigree was surveyed and the clinical characteristics of five cases of lung cancer in two generations who were admitted to our hospital was retrospectively analyzed. Four tumor samples and three normal lung tissues after surgery were send for molecular pathology test. A peripheral blood samples of 9 persons also send for molecular pathology examination. Results: Four persons of the second generation were diagnosed as lung cancer. And the first generation, mother was non-smoking and was confirmed with advanced adenocarcinoma and died. Three of children were diagnosed as adenocarcinoma in early stage and underwent surgery, another patient who had been in foreign country for more than 15 years and smoking, was diagnosed as small cell lung cancer, and died. Tumor samples from proband was tested with EGFR21 L858R mutation, Tumor samples from II1 and II2 had EGFR21 E868D mutation, other samples and blood samples were negative of T790M. Conclusion: As the literature reports, the mother suffering from lung cancer, the incidence of lung cancer increased, adenocarcinoma is the most common pathologic type, without germline EGFR gene T790M mutations.
[1] 钟文昭, 吴一龙. 吸烟和肺癌的遗传易感性[J]. 循证医学, 2009, 9(4): 201-205.
[2] 蒲桂梅, 叶君如, 卢瑶, 等. 非小细胞肺癌患者EGFR基因突变与血清肿瘤标志物之间关系探讨[J]. 温州医科大学学报, 2014, 44(9): 667-671.
[3] 宋业颖, 许春伟, 吴永芳, 等. 非小细胞肺癌患者肿瘤组织中EGFR、K-Ras和BRAF基因突变的分子病理检测分解 [J]. 解放军医药杂志, 2015, 27(4): 16-18.
[4] Detterbeck FC, Boffa DJ, Tanoue LT. The new lung cancer staging system[J]. Chest, 2009, 136(1): 260-271.
[5] 方霞, 易祥华. 肺腺癌国际多学科最新分类解析[J]. 中华结核和呼吸杂志, 2012, 35(2): 135-138.
[6] 宋丽萍, 黄辰, 邱曙东, 等. 家族性多发性肺癌伴家族性多发恶性肿瘤调查[J]. 中华医学杂志, 2004, 84(11): 924-924.
[7] Tokuhata GK, Lilienfeld AM. Familial aggregation of lung cancer in humans[J]. J Natl Cancer Inst, 1963, 30(2): 289-312.
[8] Nitadori J, Inoue M, Iwasaki M, et a1. Association between lung cancer incidence and family history of lung cancer: Data from a large-scale population-based cohort study, the JPHC study[J]. Chest, 2006, 130(4): 968-975.
[9] Jin Y, Xu Y, Xu M, et a1. Increased risk of cancel-among relatives of patients with lung cancer in China[J]. BMC Cancer, 2005, 5(11): 146.
[10] Bell DW, Gore I, Okimoto RA, et al. Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR[J]. Nat Genet, 2005, 37(12): 1315-1316.
[11] Sequist LV, Waltman BA, Dias-Santagata D, et al. Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors[J]. Sci Transl Med, 2011, 3 (75): 75ra26.
[12] Ohtsuka K, Ohnishi H, Kurai D, et al. Familial lung adenocarcinoma caused by the EGFR V843I germ-line mutation [J]. J Clin Oncol, 2011, 29(8): e191-192.
[13] Gazdar A, Robinson L, Oliver D, et al. Hereditary lung cancer syndrome targets never smokers with germline EGFR Gene T790M mutations[J]. J Thorac Oncol, 2014, 9(4): 456-463.
[14] Prudkin L, Tang X, Wistuba II. Germ-line and somatic presentations of the EGFR T790M mutation in lung cancer[J]. J Thorac Oncol, 2009, 4(1): 139-141.
[15] Tibaldi C, Giovannetti E, Vasile E, et al. Inherited germline T790M mutation and somatic epidermal growth factor receptor mutations in non-small cell lung cancer patients[J]. J Thorac Oncol, 2011, 6(2): 395-396.
[16] Yu HA, Arcila ME, Harlan Fleischut M, et al. Germline EG-FR T790M mutation found in multiple members of a familial cohort[J]. J Thorac Oncol, 2014, 9(4): 554-558.
