Identification of THSD7B and PRMT9 mutations as risk factors for familial lung adenocarcinoma: A case report

作者：Qianqian Zhang, Yanwei Zhao, Zhaona Song, Qiang Zhang, Conghui Tian, Rongrong Li, Juan Zheng, Lili Yan, Mingliang Gu, Xiaodong Jia, Mingjun Li · 发表于：Medicine · 年份：2023 · DOI：10.1097/md.0000000000032872 · 被引用次数：5 · 研究领域：Cancer-related gene regulation、Genomics and Rare Diseases、Lung Cancer Treatments and Mutations

RATIONALE: Lung tumors arise from the unrestrained malignant growth of pulmonary epithelial cells. Lung cancer cases include both small and non-small cell lung cancers, with lung adenocarcinoma (LUAD) accounting for roughly half of all non-small cell lung cancer cases. Research focused on familial cancers suggests that approximately 8% of lung cancer cases are linked to genetic susceptibility or heritability. The precise genetic factors that underlie the onset of lung cancer, however, remain to be firmly established. PATIENT CONCERNS: A 43-year-old presented with nodules in the lower left lung lobe. Following initial antibiotic treatment in a local hospital, these nodules remained present and the patient subsequently underwent the resection of the left lower lobe of the lung. The patient also had 4 family members with a history of LUAD. DIAGNOSIS: Immunohistochemical staining results including cytokeratin 7 (+), TTF-1 (+), new aspartic proteinase A (+), CK5/6 (-), P63 (-), and Ki-67 (5%+) were consistent with a diagnosis of LUAD. INTERVENTION: Whole exome sequencing analyses of 5 patients and 6 healthy family members were performed to explore potential mutations associated with familial LUAD. OUTCOMES: Whole exome sequencing was conducted, confirming that the proband and their 4 other family members with LUAD harbored heterozygous THSD7B (c.A4000G:p.S1334G) mutations and homozygous PRMT9 (c.G40T:p.G14C) mutations, as further confirmed via Sanger sequencing. These mutations we...