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Cancer Research and Treatment > Accepted Articles
doi: https://doi.org/10.4143/crt.2021.752    [Accepted]
Plasma Circulating Tumor DNA in Patients with Primary Central Nervous System Lymphoma
Sang Eun Yoon1, Yeon Jeong Kim2, Joon Ho Shim2,3, Donghyun Park2,4, Junhun Cho5, Young Hyeh Ko5, Woong-Yang Park2,6, Yeung-Chul Mun7, Kyoung Eun Lee7, Duck Cho8, Won Seog Kim1,3, Seok Jin Kim1,3
1Division of Hematology-oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2Samsung Genome Institute, Samsung Medical Center, Seoul, Korea
3Department of Health Sciences and Technology, Samsung Advanced Institute of Health Science and Technology, Sungkyunkwan University, Seoul, Korea
4GENINUS Inc., Seoul, Korea
5Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
6Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, Korea
7Division of Hematology-Oncology, Department of Internal Medicine, Ewha Medical Research Center, School of Medicine, Ewha Womans University, Seoul, Korea
8Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence  Seok Jin Kim ,Tel: 82-2-3410-1766, Fax: 82-2-3410-1754, Email: kstwoh@skku.edu
Received: June 25, 2021;  Accepted: July 21, 2021.  Published online: July 23, 2021.
*Sang Eun Yoon and Yeon Jeong Kim contributed equally to this work.
ABSTRACT
Purpose
Analysis of circulating tumor DNA (ctDNA) in blood could allow noninvasive genetic analysis of primary tumors. Although there have been unmet needs for noninvasive methods in patients with primary central nervous system lymphoma (PCNSL), it is still not determined whether plasma ctDNA analysis could be useful for patients with PCNSL.
Materials and Methods
Targeted deep sequencing of 54 genes was performed in cell-free DNA isolated from plasma samples collected pretreatment, during treatment, and at the end of treatment in 42 consecutively diagnosed PCNSL patients between January 2017 and December 2018.
Results
Targeted sequencing of plasma cell-free DNA detected somatic mutations representing ctDNA in 11 cases (11/41, 27%). The detection of ctDNA was not related to the concentration of cell-free DNA or tumor volume. The mutation profiles of these 11 cases varied between patients. The most frequently mutated gene was PIM1 (4/11, 36.4%), whereas KMT2D, PIK3CA, and MYD88 were each observed in three patients (3/11, 27%). The mutations of 13 genes were concordantly found in primary tumor tissue and plasma ctDNA, giving a detection sensitivity of 45%. During the serial tracking of seven patients with complete response, the disappearance of ctDNA mutations was found in four patients, whereas three patients had detected ctDNA mutation at the end of treatment.
Conclusion
The plasma ctDNA mutation analysis still has limited value for surveillance and predicting treatment outcomes of PCNSL because the detection efficiency was lower than other systemic lymphomas. Thus, analytical platforms should be improved to overcome anatomical hurdles associated with PCNSL.
Key words: Primary CNS lymphoma, Circulating tumor DNA, Prognosis
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