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一名年轻女性患者肺、甲状腺和肾同步三原发肿瘤的基因组分析:病例报告

Genomic profiling of synchronous triple primary tumors of the lung, thyroid and kidney in a young female patient: A case report.

作者信息

Peng Ling, Zeng Zhu, Teng Xiaodong, Chen Zhen, Lin Lili, Bao Hua, Shao Yang W, Wang Yina, Dong Yongquan, Zhao Qiong

机构信息

Department of Thoracic Oncology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China.

Department of Pathology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China.

出版信息

Oncol Lett. 2018 Nov;16(5):6089-6094. doi: 10.3892/ol.2018.9334. Epub 2018 Aug 20.

Abstract

Synchronous multiple primary malignant tumors (MPMTs) are rare in young adults. Genomic profiling of synchronous MPMTs has not been systematically investigated to elucidate their genetic associations, but may be important to assist diagnosis and guide appropriate treatment strategy. In the present study, mutation profiling was performed using targeted next generation sequencing (NGS) on 416 cancer-related genes in synchronous triple primary tumors of the lung, kidney and thyroid in a 32-year-old female patient. The patient was diagnosed with moderately differentiated lung adenocarcinoma (T2aN0M0; stage IB), renal clear cell carcinoma (T1aN0M0; stage I), and thyroid papillary carcinoma (T1N1aM0, stage III) by pathological assessments. Clinically actionable mutations in and genes were identified in the lung and the thyroid lesions, respectively. Three tumors demonstrated distinct genomic profiles, suggesting that all tumors were independent primary tumors, which was consistent with histopathological assessment. Three potential germline cancer susceptibility mutations were shared between this patient and her father who was diagnosed with lung cancer. The present results demonstrated that, in the context of identical germline background and environmental exposure, multiple synchronous tumors in the same patient may have distinct mutation profiles and can be driven by distinct molecular events. Combination therapies may need to be considered during treatment decision-making.

摘要

同步性多原发性恶性肿瘤(MPMTs)在年轻成年人中较为罕见。尚未对同步性MPMTs进行基因组分析以阐明其遗传关联,但这对于辅助诊断和指导适当的治疗策略可能很重要。在本研究中,对一名32岁女性患者的肺、肾和甲状腺同步三原发性肿瘤中的416个癌症相关基因进行了靶向新一代测序(NGS)以进行突变分析。通过病理评估,该患者被诊断为中分化肺腺癌(T2aN0M0;IB期)、肾透明细胞癌(T1aN0M0;I期)和甲状腺乳头状癌(T1N1aM0,III期)。在肺部和甲状腺病变中分别鉴定出了 和 基因的临床可操作突变。三个肿瘤显示出不同的基因组图谱,表明所有肿瘤均为独立的原发性肿瘤,这与组织病理学评估一致。该患者与其被诊断患有肺癌的父亲共有三个潜在的种系癌症易感性突变。目前的结果表明,在相同的种系背景和环境暴露情况下,同一患者的多个同步性肿瘤可能具有不同的突变图谱,并且可能由不同的分子事件驱动。在治疗决策过程中可能需要考虑联合治疗。

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