Clinical utility of target capture‐based panel sequencing in hematological malignancies: A multicenter feasibility study
Although next‐generation sequencing‐based panel testing is well practiced in the field of cancer medicine for the identification of target molecules in solid tumors, the clinical utility and clinical issues surrounding panel testing in hematological malignancies have yet to be fully evaluated. We co...
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Veröffentlicht in: | Cancer science 2020-09, Vol.111 (9), p.3367-3378 |
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creator | Yasuda, Takahiko Sanada, Masashi Nishijima, Dai Kanamori, Takashi Iijima, Yuka Hattori, Hiroyoshi Saito, Akiko Miyoshi, Hiroaki Ishikawa, Yuichi Asou, Norio Usuki, Kensuke Hirabayashi, Shinsuke Kato, Motohiro Ri, Masaki Handa, Hiroshi Ishida, Tadao Shibayama, Hirohiko Abe, Masahiro Iriyama, Chisako Karube, Kennosuke Nishikori, Momoko Ohshima, Koichi Kataoka, Keisuke Yoshida, Kenichi Shiraishi, Yuichi Goto, Hiroaki Adachi, Souichi Kobayashi, Ryoji Kiyoi, Hitoshi Miyazaki, Yasushi Ogawa, Seishi Kurahashi, Hiroki Yokoyama, Hisayuki Manabe, Atsushi Iida, Shinsuke Tomita, Akihiro Horibe, Keizo |
description | Although next‐generation sequencing‐based panel testing is well practiced in the field of cancer medicine for the identification of target molecules in solid tumors, the clinical utility and clinical issues surrounding panel testing in hematological malignancies have yet to be fully evaluated. We conducted a multicenter prospective clinical sequencing study to verify the feasibility of a panel test for hematological tumors, including acute myeloid leukemia, acute lymphoblastic leukemia, multiple myeloma, and diffuse large B‐cell lymphoma. Out of 96 eligible patients, 79 patients (82%) showed potentially actionable findings, based on the clinical sequencing assays. We identified that genetic alterations with a strong clinical significance were found at a higher frequency in terms of diagnosis (n = 60; 63%) and prognosis (n = 61; 64%) than in terms of therapy (n = 8; 8%). Three patients who harbored a germline mutation in either DDX41 (n = 2) or BRCA2 (n = 1) were provided with genetic counseling. At 6 mo after sequencing, clinical actions based on the diagnostic (n = 5) or prognostic (n = 3) findings were reported, but no patients were enrolled in a clinical trial or received targeted therapies based on the sequencing results. These results suggest that panel testing for hematological malignancies would be feasible given the availability of useful diagnostic and prognostic information. This study is registered with the UMIN Clinical Trial Registry (UMIN000029879, multiple myeloma; UMIN000031343, adult acute myeloid leukemia; UMIN000033144, diffuse large B‐cell lymphoma; and UMIN000034243, childhood leukemia).
This multicenter prospective study investigated feasibility of target capture‐based panel testing, focusing on hematological malignancies. Our results suggest that panel testing for hematological malignancies is feasible given the availability of useful diagnostic and prognostic information. |
doi_str_mv | 10.1111/cas.14552 |
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This multicenter prospective study investigated feasibility of target capture‐based panel testing, focusing on hematological malignancies. Our results suggest that panel testing for hematological malignancies is feasible given the availability of useful diagnostic and prognostic information.</description><identifier>ISSN: 1347-9032</identifier><identifier>ISSN: 1349-7006</identifier><identifier>EISSN: 1349-7006</identifier><identifier>DOI: 10.1111/cas.14552</identifier><identifier>PMID: 32619037</identifier><language>eng</language><publisher>England: John Wiley & Sons, Inc</publisher><subject>Acute lymphoblastic leukemia ; Acute myeloid leukemia ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor ; BRCA2 protein ; Cancer ; Child ; Child, Preschool ; Children ; clinical sequencing ; Computational Biology - methods ; Consortia ; Deoxyribonucleic acid ; DNA ; Feasibility studies ; feasibility study ; Female ; Gene amplification ; Genetic Association Studies - methods ; Genetic counseling ; Genetic Predisposition to Disease ; Genetic Testing ; Genomes ; Genomics ; Germ-Line Mutation ; Hematologic Neoplasms - diagnosis ; Hematologic Neoplasms - genetics ; Hematologic Neoplasms - therapy ; hematological malignancy ; Hematology ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Infant, Newborn ; Leukemia ; Lymphatic leukemia ; Lymphoma ; Male ; Middle Aged ; Multiple myeloma ; Mutation ; Myeloid leukemia ; Original ; panel testing ; Pediatrics ; potentially actionable finding ; Reproducibility of Results ; Solid tumors ; Tumors ; Young Adult</subject><ispartof>Cancer science, 2020-09, Vol.111 (9), p.3367-3378</ispartof><rights>2020 The Authors. published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association</rights><rights>2020 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.</rights><rights>2020. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5332-d74fbc9fbddefbc1979f2a004b4bfa4d9cdab74084a207211f0fa3681ceb524c3</citedby><cites>FETCH-LOGICAL-c5332-d74fbc9fbddefbc1979f2a004b4bfa4d9cdab74084a207211f0fa3681ceb524c3</cites><orcidid>0000-0002-4951-960X ; 0000-0001-6382-9498 ; 0000-0002-1205-858X ; 0000-0002-9617-486X ; 0000-0002-2356-3725 ; 0000-0003-3219-3292 ; 0000-0002-4686-0976 ; 0000-0003-4171-2162</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469806/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469806/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,1411,11541,27901,27902,45550,45551,46027,46451,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32619037$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yasuda, Takahiko</creatorcontrib><creatorcontrib>Sanada, Masashi</creatorcontrib><creatorcontrib>Nishijima, Dai</creatorcontrib><creatorcontrib>Kanamori, Takashi</creatorcontrib><creatorcontrib>Iijima, Yuka</creatorcontrib><creatorcontrib>Hattori, Hiroyoshi</creatorcontrib><creatorcontrib>Saito, Akiko</creatorcontrib><creatorcontrib>Miyoshi, Hiroaki</creatorcontrib><creatorcontrib>Ishikawa, Yuichi</creatorcontrib><creatorcontrib>Asou, Norio</creatorcontrib><creatorcontrib>Usuki, Kensuke</creatorcontrib><creatorcontrib>Hirabayashi, Shinsuke</creatorcontrib><creatorcontrib>Kato, Motohiro</creatorcontrib><creatorcontrib>Ri, Masaki</creatorcontrib><creatorcontrib>Handa, Hiroshi</creatorcontrib><creatorcontrib>Ishida, Tadao</creatorcontrib><creatorcontrib>Shibayama, Hirohiko</creatorcontrib><creatorcontrib>Abe, Masahiro</creatorcontrib><creatorcontrib>Iriyama, Chisako</creatorcontrib><creatorcontrib>Karube, Kennosuke</creatorcontrib><creatorcontrib>Nishikori, Momoko</creatorcontrib><creatorcontrib>Ohshima, Koichi</creatorcontrib><creatorcontrib>Kataoka, Keisuke</creatorcontrib><creatorcontrib>Yoshida, Kenichi</creatorcontrib><creatorcontrib>Shiraishi, Yuichi</creatorcontrib><creatorcontrib>Goto, Hiroaki</creatorcontrib><creatorcontrib>Adachi, Souichi</creatorcontrib><creatorcontrib>Kobayashi, Ryoji</creatorcontrib><creatorcontrib>Kiyoi, Hitoshi</creatorcontrib><creatorcontrib>Miyazaki, Yasushi</creatorcontrib><creatorcontrib>Ogawa, Seishi</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><creatorcontrib>Yokoyama, Hisayuki</creatorcontrib><creatorcontrib>Manabe, Atsushi</creatorcontrib><creatorcontrib>Iida, Shinsuke</creatorcontrib><creatorcontrib>Tomita, Akihiro</creatorcontrib><creatorcontrib>Horibe, Keizo</creatorcontrib><title>Clinical utility of target capture‐based panel sequencing in hematological malignancies: A multicenter feasibility study</title><title>Cancer science</title><addtitle>Cancer Sci</addtitle><description>Although next‐generation sequencing‐based panel testing is well practiced in the field of cancer medicine for the identification of target molecules in solid tumors, the clinical utility and clinical issues surrounding panel testing in hematological malignancies have yet to be fully evaluated. We conducted a multicenter prospective clinical sequencing study to verify the feasibility of a panel test for hematological tumors, including acute myeloid leukemia, acute lymphoblastic leukemia, multiple myeloma, and diffuse large B‐cell lymphoma. Out of 96 eligible patients, 79 patients (82%) showed potentially actionable findings, based on the clinical sequencing assays. We identified that genetic alterations with a strong clinical significance were found at a higher frequency in terms of diagnosis (n = 60; 63%) and prognosis (n = 61; 64%) than in terms of therapy (n = 8; 8%). Three patients who harbored a germline mutation in either DDX41 (n = 2) or BRCA2 (n = 1) were provided with genetic counseling. At 6 mo after sequencing, clinical actions based on the diagnostic (n = 5) or prognostic (n = 3) findings were reported, but no patients were enrolled in a clinical trial or received targeted therapies based on the sequencing results. These results suggest that panel testing for hematological malignancies would be feasible given the availability of useful diagnostic and prognostic information. This study is registered with the UMIN Clinical Trial Registry (UMIN000029879, multiple myeloma; UMIN000031343, adult acute myeloid leukemia; UMIN000033144, diffuse large B‐cell lymphoma; and UMIN000034243, childhood leukemia).
This multicenter prospective study investigated feasibility of target capture‐based panel testing, focusing on hematological malignancies. Our results suggest that panel testing for hematological malignancies is feasible given the availability of useful diagnostic and prognostic information.</description><subject>Acute lymphoblastic leukemia</subject><subject>Acute myeloid leukemia</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biomarkers, Tumor</subject><subject>BRCA2 protein</subject><subject>Cancer</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>clinical sequencing</subject><subject>Computational Biology - methods</subject><subject>Consortia</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Feasibility studies</subject><subject>feasibility study</subject><subject>Female</subject><subject>Gene amplification</subject><subject>Genetic Association Studies - methods</subject><subject>Genetic counseling</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Germ-Line Mutation</subject><subject>Hematologic Neoplasms - diagnosis</subject><subject>Hematologic Neoplasms - genetics</subject><subject>Hematologic Neoplasms - therapy</subject><subject>hematological malignancy</subject><subject>Hematology</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Leukemia</subject><subject>Lymphatic leukemia</subject><subject>Lymphoma</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Multiple myeloma</subject><subject>Mutation</subject><subject>Myeloid leukemia</subject><subject>Original</subject><subject>panel testing</subject><subject>Pediatrics</subject><subject>potentially actionable finding</subject><subject>Reproducibility of Results</subject><subject>Solid tumors</subject><subject>Tumors</subject><subject>Young 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utility of target capture‐based panel sequencing in hematological malignancies: A multicenter feasibility study</title><author>Yasuda, Takahiko ; Sanada, Masashi ; Nishijima, Dai ; Kanamori, Takashi ; Iijima, Yuka ; Hattori, Hiroyoshi ; Saito, Akiko ; Miyoshi, Hiroaki ; Ishikawa, Yuichi ; Asou, Norio ; Usuki, Kensuke ; Hirabayashi, Shinsuke ; Kato, Motohiro ; Ri, Masaki ; Handa, Hiroshi ; Ishida, Tadao ; Shibayama, Hirohiko ; Abe, Masahiro ; Iriyama, Chisako ; Karube, Kennosuke ; Nishikori, Momoko ; Ohshima, Koichi ; Kataoka, Keisuke ; Yoshida, Kenichi ; Shiraishi, Yuichi ; Goto, Hiroaki ; Adachi, Souichi ; Kobayashi, Ryoji ; Kiyoi, Hitoshi ; Miyazaki, Yasushi ; Ogawa, Seishi ; Kurahashi, Hiroki ; Yokoyama, Hisayuki ; Manabe, Atsushi ; Iida, Shinsuke ; Tomita, Akihiro ; Horibe, Keizo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5332-d74fbc9fbddefbc1979f2a004b4bfa4d9cdab74084a207211f0fa3681ceb524c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Acute lymphoblastic leukemia</topic><topic>Acute myeloid leukemia</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biomarkers, Tumor</topic><topic>BRCA2 protein</topic><topic>Cancer</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>clinical sequencing</topic><topic>Computational Biology - methods</topic><topic>Consortia</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Feasibility studies</topic><topic>feasibility study</topic><topic>Female</topic><topic>Gene amplification</topic><topic>Genetic Association Studies - methods</topic><topic>Genetic counseling</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Germ-Line Mutation</topic><topic>Hematologic Neoplasms - diagnosis</topic><topic>Hematologic Neoplasms - genetics</topic><topic>Hematologic Neoplasms - therapy</topic><topic>hematological malignancy</topic><topic>Hematology</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Leukemia</topic><topic>Lymphatic leukemia</topic><topic>Lymphoma</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Multiple myeloma</topic><topic>Mutation</topic><topic>Myeloid leukemia</topic><topic>Original</topic><topic>panel testing</topic><topic>Pediatrics</topic><topic>potentially actionable finding</topic><topic>Reproducibility of Results</topic><topic>Solid tumors</topic><topic>Tumors</topic><topic>Young 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Chisako</creatorcontrib><creatorcontrib>Karube, Kennosuke</creatorcontrib><creatorcontrib>Nishikori, Momoko</creatorcontrib><creatorcontrib>Ohshima, Koichi</creatorcontrib><creatorcontrib>Kataoka, Keisuke</creatorcontrib><creatorcontrib>Yoshida, Kenichi</creatorcontrib><creatorcontrib>Shiraishi, Yuichi</creatorcontrib><creatorcontrib>Goto, Hiroaki</creatorcontrib><creatorcontrib>Adachi, Souichi</creatorcontrib><creatorcontrib>Kobayashi, Ryoji</creatorcontrib><creatorcontrib>Kiyoi, Hitoshi</creatorcontrib><creatorcontrib>Miyazaki, Yasushi</creatorcontrib><creatorcontrib>Ogawa, Seishi</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><creatorcontrib>Yokoyama, Hisayuki</creatorcontrib><creatorcontrib>Manabe, Atsushi</creatorcontrib><creatorcontrib>Iida, Shinsuke</creatorcontrib><creatorcontrib>Tomita, Akihiro</creatorcontrib><creatorcontrib>Horibe, Keizo</creatorcontrib><collection>Wiley Online Library Open 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Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Cancer science</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yasuda, Takahiko</au><au>Sanada, Masashi</au><au>Nishijima, Dai</au><au>Kanamori, Takashi</au><au>Iijima, Yuka</au><au>Hattori, Hiroyoshi</au><au>Saito, Akiko</au><au>Miyoshi, Hiroaki</au><au>Ishikawa, Yuichi</au><au>Asou, Norio</au><au>Usuki, Kensuke</au><au>Hirabayashi, Shinsuke</au><au>Kato, Motohiro</au><au>Ri, Masaki</au><au>Handa, Hiroshi</au><au>Ishida, Tadao</au><au>Shibayama, Hirohiko</au><au>Abe, Masahiro</au><au>Iriyama, Chisako</au><au>Karube, Kennosuke</au><au>Nishikori, Momoko</au><au>Ohshima, Koichi</au><au>Kataoka, Keisuke</au><au>Yoshida, Kenichi</au><au>Shiraishi, Yuichi</au><au>Goto, Hiroaki</au><au>Adachi, Souichi</au><au>Kobayashi, Ryoji</au><au>Kiyoi, Hitoshi</au><au>Miyazaki, Yasushi</au><au>Ogawa, Seishi</au><au>Kurahashi, Hiroki</au><au>Yokoyama, Hisayuki</au><au>Manabe, Atsushi</au><au>Iida, Shinsuke</au><au>Tomita, Akihiro</au><au>Horibe, Keizo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical utility of target capture‐based panel sequencing in hematological malignancies: A multicenter feasibility study</atitle><jtitle>Cancer science</jtitle><addtitle>Cancer Sci</addtitle><date>2020-09</date><risdate>2020</risdate><volume>111</volume><issue>9</issue><spage>3367</spage><epage>3378</epage><pages>3367-3378</pages><issn>1347-9032</issn><issn>1349-7006</issn><eissn>1349-7006</eissn><abstract>Although next‐generation sequencing‐based panel testing is well practiced in the field of cancer medicine for the identification of target molecules in solid tumors, the clinical utility and clinical issues surrounding panel testing in hematological malignancies have yet to be fully evaluated. We conducted a multicenter prospective clinical sequencing study to verify the feasibility of a panel test for hematological tumors, including acute myeloid leukemia, acute lymphoblastic leukemia, multiple myeloma, and diffuse large B‐cell lymphoma. Out of 96 eligible patients, 79 patients (82%) showed potentially actionable findings, based on the clinical sequencing assays. We identified that genetic alterations with a strong clinical significance were found at a higher frequency in terms of diagnosis (n = 60; 63%) and prognosis (n = 61; 64%) than in terms of therapy (n = 8; 8%). Three patients who harbored a germline mutation in either DDX41 (n = 2) or BRCA2 (n = 1) were provided with genetic counseling. At 6 mo after sequencing, clinical actions based on the diagnostic (n = 5) or prognostic (n = 3) findings were reported, but no patients were enrolled in a clinical trial or received targeted therapies based on the sequencing results. These results suggest that panel testing for hematological malignancies would be feasible given the availability of useful diagnostic and prognostic information. This study is registered with the UMIN Clinical Trial Registry (UMIN000029879, multiple myeloma; UMIN000031343, adult acute myeloid leukemia; UMIN000033144, diffuse large B‐cell lymphoma; and UMIN000034243, childhood leukemia).
This multicenter prospective study investigated feasibility of target capture‐based panel testing, focusing on hematological malignancies. Our results suggest that panel testing for hematological malignancies is feasible given the availability of useful diagnostic and prognostic information.</abstract><cop>England</cop><pub>John Wiley & Sons, Inc</pub><pmid>32619037</pmid><doi>10.1111/cas.14552</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0002-4951-960X</orcidid><orcidid>https://orcid.org/0000-0001-6382-9498</orcidid><orcidid>https://orcid.org/0000-0002-1205-858X</orcidid><orcidid>https://orcid.org/0000-0002-9617-486X</orcidid><orcidid>https://orcid.org/0000-0002-2356-3725</orcidid><orcidid>https://orcid.org/0000-0003-3219-3292</orcidid><orcidid>https://orcid.org/0000-0002-4686-0976</orcidid><orcidid>https://orcid.org/0000-0003-4171-2162</orcidid><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1347-9032 |
ispartof | Cancer science, 2020-09, Vol.111 (9), p.3367-3378 |
issn | 1347-9032 1349-7006 1349-7006 |
language | eng |
recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7469806 |
source | MEDLINE; Wiley Online Library Open Access; DOAJ Directory of Open Access Journals; Wiley Online Library Journals Frontfile Complete; PubMed Central |
subjects | Acute lymphoblastic leukemia Acute myeloid leukemia Adolescent Adult Aged Aged, 80 and over Biomarkers, Tumor BRCA2 protein Cancer Child Child, Preschool Children clinical sequencing Computational Biology - methods Consortia Deoxyribonucleic acid DNA Feasibility studies feasibility study Female Gene amplification Genetic Association Studies - methods Genetic counseling Genetic Predisposition to Disease Genetic Testing Genomes Genomics Germ-Line Mutation Hematologic Neoplasms - diagnosis Hematologic Neoplasms - genetics Hematologic Neoplasms - therapy hematological malignancy Hematology High-Throughput Nucleotide Sequencing Humans Infant Infant, Newborn Leukemia Lymphatic leukemia Lymphoma Male Middle Aged Multiple myeloma Mutation Myeloid leukemia Original panel testing Pediatrics potentially actionable finding Reproducibility of Results Solid tumors Tumors Young Adult |
title | Clinical utility of target capture‐based panel sequencing in hematological malignancies: A multicenter feasibility study |
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