Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case Report
Reliable and accurate next generation sequencing (NGS) technologies are important in precision medicine. Analysis using currently available NGS genomic tests is conducted on cancer-derived DNA collected from tumor tissue, blood, or both. Clonal hematopoiesis (CH) produces a detectable somatic clonal...
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| Format: | Article |
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Frontiers Media S.A.
2020-02-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fonc.2020.00113/full |
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| author | Munehiro Ito Yutaka Fujiwara Yutaka Fujiwara Yutaka Fujiwara Takashi Kubo Hiromichi Matsushita Tadashi Kumamoto Tatsuya Suzuki Kuniko Sunami Noboru Yamamoto Noboru Yamamoto Takashi Kohno Takashi Kohno |
| author_facet | Munehiro Ito Yutaka Fujiwara Yutaka Fujiwara Yutaka Fujiwara Takashi Kubo Hiromichi Matsushita Tadashi Kumamoto Tatsuya Suzuki Kuniko Sunami Noboru Yamamoto Noboru Yamamoto Takashi Kohno Takashi Kohno |
| author_sort | Munehiro Ito |
| collection | DOAJ |
| description | Reliable and accurate next generation sequencing (NGS) technologies are important in precision medicine. Analysis using currently available NGS genomic tests is conducted on cancer-derived DNA collected from tumor tissue, blood, or both. Clonal hematopoiesis (CH) produces a detectable somatic clonal mutation that is commonly associated with clonal expansion of hematopoietic cells with age and genomic analysis of blood samples can be used to detect CH. A 74-year-old Korean male had lung adenocarcinoma with a metastasis to the left scapula. He underwent palliative radiotherapy to the left scapula and received multi-line chemotherapies. After disease progression, he underwent re-biopsy of the metastatic tumor tissue from lung cancer and concomitant blood sampling. NGS genomic testing revealed no significant genomic mutation in the tumor tissue DNA but showed the TP53 mutation C135Y in peripheral blood DNA. To investigate the discordance between the genotyping results in tumor tissue and blood, we tested for the TP53 mutation using a target sequencing test in blood and normal oral mucosa. The TP53 mutation C135Y was only detected in the blood sample, confirming the presence of TP53-mutated CH. We should be aware of different characteristics in NGS genomic testing including sample type such as tumor, blood, or paired specimens. Performing genomic testing on paired tumor and blood samples is effective for discriminating mutations derived from CH from germline mutations and somatic mutations in tumor cells. |
| first_indexed | 2024-12-22T13:04:18Z |
| format | Article |
| id | doaj.art-35a4315a49344595a265942746cd336c |
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| issn | 2234-943X |
| language | English |
| last_indexed | 2024-12-22T13:04:18Z |
| publishDate | 2020-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Oncology |
| spelling | doaj.art-35a4315a49344595a265942746cd336c2022-12-21T18:24:54ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2020-02-011010.3389/fonc.2020.00113507247Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case ReportMunehiro Ito0Yutaka Fujiwara1Yutaka Fujiwara2Yutaka Fujiwara3Takashi Kubo4Hiromichi Matsushita5Tadashi Kumamoto6Tatsuya Suzuki7Kuniko Sunami8Noboru Yamamoto9Noboru Yamamoto10Takashi Kohno11Takashi Kohno12Department of Thoracic Oncology, National Cancer Center Hospital, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Tokyo, JapanDepartment of Experimental Therapeutics, National Cancer Center Hospital, Tokyo, JapanDepartment of Respiratory Medicine, Mitsui Memorial Hospital, Tokyo, JapanDivision of Translational Genomics, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center, Tokyo, JapanDepartment of Laboratory Medicine, National Cancer Center Hospital, Tokyo, JapanDepartment of Pediatric Oncology, National Cancer Center Hospital, Tokyo, JapanDepartment of Hematology, National Cancer Center Hospital, Tokyo, JapanDepartment of Laboratory Medicine, National Cancer Center Hospital, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Tokyo, JapanDepartment of Experimental Therapeutics, National Cancer Center Hospital, Tokyo, JapanDivision of Translational Genomics, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center, Tokyo, JapanDivision of Genome Biology, National Cancer Center Research Institute, Tokyo, JapanReliable and accurate next generation sequencing (NGS) technologies are important in precision medicine. Analysis using currently available NGS genomic tests is conducted on cancer-derived DNA collected from tumor tissue, blood, or both. Clonal hematopoiesis (CH) produces a detectable somatic clonal mutation that is commonly associated with clonal expansion of hematopoietic cells with age and genomic analysis of blood samples can be used to detect CH. A 74-year-old Korean male had lung adenocarcinoma with a metastasis to the left scapula. He underwent palliative radiotherapy to the left scapula and received multi-line chemotherapies. After disease progression, he underwent re-biopsy of the metastatic tumor tissue from lung cancer and concomitant blood sampling. NGS genomic testing revealed no significant genomic mutation in the tumor tissue DNA but showed the TP53 mutation C135Y in peripheral blood DNA. To investigate the discordance between the genotyping results in tumor tissue and blood, we tested for the TP53 mutation using a target sequencing test in blood and normal oral mucosa. The TP53 mutation C135Y was only detected in the blood sample, confirming the presence of TP53-mutated CH. We should be aware of different characteristics in NGS genomic testing including sample type such as tumor, blood, or paired specimens. Performing genomic testing on paired tumor and blood samples is effective for discriminating mutations derived from CH from germline mutations and somatic mutations in tumor cells.https://www.frontiersin.org/article/10.3389/fonc.2020.00113/fullcell-free DNAclonal hematopoiesisnext generation sequencingprecision medicineTP53 mutation |
| spellingShingle | Munehiro Ito Yutaka Fujiwara Yutaka Fujiwara Yutaka Fujiwara Takashi Kubo Hiromichi Matsushita Tadashi Kumamoto Tatsuya Suzuki Kuniko Sunami Noboru Yamamoto Noboru Yamamoto Takashi Kohno Takashi Kohno Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case Report Frontiers in Oncology cell-free DNA clonal hematopoiesis next generation sequencing precision medicine TP53 mutation |
| title | Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case Report |
| title_full | Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case Report |
| title_fullStr | Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case Report |
| title_full_unstemmed | Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case Report |
| title_short | Clonal Hematopoiesis From Next Generation Sequencing of Plasma From a Patient With Lung Adenocarcinoma: A Case Report |
| title_sort | clonal hematopoiesis from next generation sequencing of plasma from a patient with lung adenocarcinoma a case report |
| topic | cell-free DNA clonal hematopoiesis next generation sequencing precision medicine TP53 mutation |
| url | https://www.frontiersin.org/article/10.3389/fonc.2020.00113/full |
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