Next-generation sequencing identifies the mutational signature of double primary and metastatic malignancies: A case report

Abstract

We present the case of a 59-year-old Chinese man diagnosed with stage III clear cell renal cell carcinoma who developed 2 suspicious lung lesions 5 years after follow-up. Pathological evaluation revealed 2 distinct types of cancer: lung adenocarcinoma in situ and clear cell renal carcinoma with lung metastasis. Lung tissue samples were sequenced using a panel of 1267 cancer-related genes. The analysis revealed completely different molecular profiles between the 2 lung lesions and similar clonal mutations in the superior lingular lobe and kidney. This indicates multiple metachronous primary tumors.

Keywords

Multiple primary tumors / Clear cell renal cell carcinoma / Adenocarcinoma in situ of lung / VHL gene / MAP2K1 gene / Next-generation sequencing

Acknowledgments

None.

Statement of ethics

The study was approved by the Peking University Third Hospital Medical Science Research Ethics Committees (M2020382). Written informed consent to publish his case including images was given by the patient. All procedures performed in study involving human participants were in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Conflict of interest statement

The authors declare no conflict of interest.

Funding source

There were no sources of financial grants or other funding for this research.

Author contributions

MQ: Supervision;

ST, YD: Conceptualization, methodology, writing original draft, writing review;

HH, YY, JB, SZ, JY: Formal analysis;

XT: Writing review, editing;

All authors contributed to the article and approved the submitted version.

Data availability

Data sharing is not applicable to this article, as no datasets were generated or analyzed in the current study.

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