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

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

doi:10.3892/ol.2018.9334

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

Authors:
- Ling Peng
- Zhu Zeng
- Xiaodong Teng
- Zhen Chen
- Lili Lin
- Hua Bao
- Yang W. Shao
- Yina Wang
- Yongquan Dong
- Qiong Zhao
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Affiliations: 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, Department of PET/CT, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China, Translational Medicine Research Institute, Geenseeq Technology Inc., Toronto, ON M5G1L7, Canada, Department of Respiratory Disease, YinZhou Second Hospital, Ningbo, Zhejiang 315040, P.R. China
Published online on: August 20, 2018 https://doi.org/10.3892/ol.2018.9334
Pages: 6089-6094

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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 EGFR and BRAF 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.

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