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The Desmoid Tumor Research Foundation

January 2021

Clinical application of next-generation sequencing for the management of desmoid tumors: A case report and literature review [Full Article]

Author Information

Lee JM(1,2), Kim HG(1,3), Shin SY(4), Lee SH(2).

(1)Dept of Medicine, Graduate School, Kyung Hee University. (2)Division of Pulmonary and Critical Care Medicine, Dept of Internal Medicine, Kyung Hee University Medical Center, Kyung Hee University School of Medicine. (3)Dept of Pathology. (4)Dept of Radiology, Kyung Hee University Medical Center, Kyung Hee University School of Medicine, Seoul, South Korea.

Publication

Medicine (Baltimore)

Summary

A 42-year-old man visited our clinic for routine follow-up 1 year after left upper lobe lingular segmentectomy for lung adenocarcinoma. Chest computed tomography showed a pleural mass adherent to the thoracotomy site. Positron emission tomography revealed mildly increased metabolism with a maximal standardized uptake value of 2.7 within the tumor, suggesting local recurrence of the previous neoplasm. Exploratory thoracotomy and en bloc resection of the tumor revealed spindle cells in a massive collagenous tissue consistent with a desmoid tumor. Next-generation sequencing (NGS) was performed to confirm the diagnosis and to identify any genetic alterations that might be relevant to the prognosis of this tumor. The tumor harbored an S45F mutation in CTNNB1, which has been correlated with a high recurrence rate. Therefore, we performed adjuvant radiotherapy on the resection bed at a dose of 56 Gy. The patient experienced no postoperative or radiotherapy-related complications. Periodic follow-up examinations using computed tomography were performed every 3 months, and no evidence of recurrence of either tumor was observed during the 38 months after the last surgery. To the best of our knowledge, this is the first case reporting the clinical application of NGS and aggressive treatment based on the genotyping results for the management of a desmoid tumor.

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