Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 6, 2021; 9(28): 8563-8570
Published online Oct 6, 2021. doi: 10.12998/wjcc.v9.i28.8563
Genetic characteristics of a patient with multiple primary cancers: A case report
Wei-Wei Ouyang, Qing-Yun Li, Wen-Gang Yang, Sheng-Fa Su, Li-Jia Wu, Ying Yang, Bing Lu
Wei-Wei Ouyang, Wen-Gang Yang, Sheng-Fa Su, Bing Lu, Department of Thoracic Oncology, The Affiliated Hospital of Guizhou Medical University and Cancer Hospital of Guizhou Medical University, Guiyang 550000, Guizhou Province, China
Qing-Yun Li, Li-Jia Wu, Ying Yang, Genecast Biotechnology Co., Ltd, Wuxi 214104, Jiangsu Province, China
Author contributions: Lu B designed the research project; Li QY drafted the manuscript; Ouyang WW and Yang WG were responsible for the treatment of the patient; Ouyang WW collected the patient’ clinical data; Wu LJ and Yang Y performed the data analyses; Su SF assisted in the writing of the manuscript; all authors have read and approved the manuscript.
Informed consent statement: Informed consent was obtained from the patient prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no competing interests to report.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Bing Lu, MD, Doctor, Department of Thoracic Oncology, The Affiliated Hospital of Guizhou Medical University and Cancer Hospital of Guizhou Medical University, No. 1 West Beijing Road, Yunyan District, Guiyang 550000, Guizhou Province, China.
Received: May 27, 2021
Peer-review started: May 27, 2021
First decision: June 15, 2021
Revised: June 28, 2021
Accepted: August 2, 2021
Article in press: August 2, 2021
Published online: October 6, 2021

Two or multiple primary malignant neoplasms (MPMNs) rarely occur in the same patient. It has been reported that MPMNs are easily misdiagnosed as the recurrence or metastasis of malignancies in clinical practice, affecting the choice of treatment for the patients, thereby resulting in the delay of optimal diagnosis. Next generation sequencing (NGS) can be used to distinguish between multiple primary lung cancers and intrapulmonary metastasis, and may distinguish the origin of tumours in different sites of the body.


We report the case of 66-year-old woman who suffered from different malignant neoplasms in the rectum and esophageal and gastrointestinal tract. The first neoplasm rectal adenocarcinoma was diagnosed and removed in 2016. The second and third lesions were diagnosed with esophageal squamous-cell carcinoma (ESCC) and gastrointestinal stromal tumour (GIST), respectively, in 2019. Next-generation whole exome sequencing was performed on the tissue specimens of rectal carcinoma, esophageal cancer, GIST, and white blood cells to investigate the relationship between malignancies at different timeframe and determine whether the ESCC and GIST evolved from the rectal adenocarcinoma. Mutations including v-Ki-ras2-Kirsten rat sarcoma viral oncogene homolog, adenomatosis polyposis coli, and mothers against decapentaplegic homolog 4 were detected in rectal adenocarcinoma sample, mast/stem cell growth factor receptor was detected in GIST tissue, and lysine methyltransferase 2D was detected in ESCC specimen. Overall, ESCC and GIST were not genetically evolved from rectal adenocarcinoma, and this patient did not have a trunk driven clone.


NGS is an effective tool to study clonal evolution of tumours and distinguish between MPMNs and intrapulmonary metastasis.

Keywords: Multiple primary malignant neoplasms, Whole exome sequencing, Rectal carcinoma, Esophageal squamous-cell carcinoma, Gastrointestinal stromal tumour, Case report

Core Tip: We report a case of multiple primary malignant neoplasms. In this case, next-generation whole exome sequencing confirmed that esophageal squamous-cell carcinoma and gastrointestinal stromal tumour were not genetically evolved from rectal adenocarcinoma that was removed 3 years ago but occurred independently. The results of next-generation whole exome sequencing of the tumour tissues confirmed the specimens’ evolution relationship.