表皮生长因子受体突变肺癌是李-弗劳米尼综合征患者的继发性肿瘤:病例报告。

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL
AME Case Reports Pub Date : 2024-06-14 eCollection Date: 2024-01-01 DOI:10.21037/acr-23-206
Daniela Cristina Cortés Valenzuela, Pablo Andrés Vega Medina, Francisco José Palma García, Omar Castillo-Fernandez
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引用次数: 0

摘要

背景:李-弗劳米尼综合征(LFS)是一种罕见的遗传性疾病,由肿瘤蛋白 p53(TP53)突变引起。该病易导致多种恶性肿瘤,主要包括乳腺癌、肉瘤和中枢神经系统肿瘤。文献中也有少数 LFS 患者出现表皮生长因子受体(EGFR)突变肺癌的病例。不过,也有人认为,TP53致病变体与体细胞中表皮生长因子受体(EGFR)突变的肺癌之间可能存在关联:一名 47 岁的非吸烟女性,患有 LFS,曾患多种肿瘤,包括双侧乳腺癌、胸腺瘤和肉瘤。在一次计算机断层扫描中,她发现肺部的舌状细胞有病变。经过活检,诊断为肺腺癌,基因研究发现表皮生长因子受体外显子19缺失。她接受了左下肺叶切除术,随后又接受了培美曲塞和顺铂治疗:结论:病例报告显示,TP53 与表皮生长因子受体(EGFR)突变的肺癌有关。对肺癌细胞系的研究表明,TP53 基因突变与表皮生长因子受体过表达之间存在联系。然而,随着更多病例的报道,还需要进一步的研究,以了解这两种病理之间的相互关系,以及肺癌对表皮生长因子受体突变肺癌的出现所带来的风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
EGFR-mutated lung cancer as a secondary neoplasm in a patient with Li-Fraumeni syndrome: case report.

Background: Li-Fraumeni syndrome (LFS) is a rare hereditary disorder caused by mutations in the tumor protein p53 (TP53). It causes a predisposition for the development of multiple malignancies, primarily including breast cancers, sarcomas, and central nervous system tumors. There are a few cases reported in the literature of patients with LFS presenting with an epidermal growth factor receptor (EGFR) mutated lung cancer. Still, it has been suggested that there may be an association between the TP53 pathogenic variant and lung cancer with EGFR mutation in somatic cells.

Case description: A 47-year-old non-smoker woman with LFS with a history of multiple tumors, including bilateral breast cancer, pecoma, and sarcoma. In one of her computed tomography, a lesion in the lingula of the lung was detected. It was biopsied, which diagnosed lung adenocarcinoma, and genetic studies detected an EGFR exon 19 deletion. She was treated with a left inferior lobectomy, followed by pemetrexed and cisplatin.

Conclusions: The association between TP53 and lung cancer with EGFR mutation has been suggested in case reports. Studies in lung cancer cell lines have shown a link between TP53 mutation and EGFR overexpression. Nonetheless, as more cases are reported, further research is needed to comprehend the interrelation between these two pathologies and the risk posed by LFS to the emergence of EGFR-mutated lung cancer.

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