Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts
Summary KIT D816V mutation within exon 17 has been particularly reported as one of the poor prognostic factors in pediatric acute myeloid leukemia (AML) with RUNX1‐RUNX1T1. The exact frequency and the prognostic impact of KIT D816V minor clones at diagnosis were not examined. In this study, the mino...
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| Veröffentlicht in: | British journal of haematology 2021-07, Vol.194 (2), p.414-422 |
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| creator | Sasaki, Koji Tsujimoto, Shinichi Miyake, Mayuko Uchiyama, Yuri Ikeda, Junji Yoshitomi, Masahiro Shimosato, Yuko Tokumasu, Mayu Matsuo, Hidemasa Yoshida, Kenichi Ohki, Kentaro Kaburagi, Taeko Yamato, Genki Hara, Yusuke Takeuchi, Masanobu Kinoshita, Akitoshi Tomizawa, Daisuke Taga, Takashi Adachi, Souichi Tawa, Akio Horibe, Keizo Hayashi, Yasuhide Matsumoto, Naomichi Ito, Shuichi Shiba, Norio |
| description | Summary
KIT D816V mutation within exon 17 has been particularly reported as one of the poor prognostic factors in pediatric acute myeloid leukemia (AML) with RUNX1‐RUNX1T1. The exact frequency and the prognostic impact of KIT D816V minor clones at diagnosis were not examined. In this study, the minor clones were examined and the prognostic significance of KIT D816V mutation in pediatric patients was investigated. Consequently, 24 KIT D816V mutations (7.2%) in 335 pediatric patients were identified, and 12 of 24 were only detected via the digital droplet polymerase chain reaction method. All 12 patients were confined in core binding factor (CBF)‐AML patients. The 5 year event‐free survival of the patients with KIT D816V mutation was significantly inferior to those without KIT D816V mutation (44.1% [95% confidence interval (CI), 16.0%–69.4%] vs. 74.7% [95% CI, 63.0%–83.2%] P‐value = 0.02, respectively). The 5 year overall survival was not different between the two groups (92.9% [95% CI, 59.0%–NA vs. 89.7% [95% CI, 69.6%–96.8%] P‐value = 0.607, respectively). In this study, KIT D816V minor clones in patients with CBF‐AML were confirmed and KIT D816V was considered as a risk factor for relapse in patients with RUNX1‐RUNX1T1‐positive AML. |
| doi_str_mv | 10.1111/bjh.17569 |
| format | Article |
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KIT D816V mutation within exon 17 has been particularly reported as one of the poor prognostic factors in pediatric acute myeloid leukemia (AML) with RUNX1‐RUNX1T1. The exact frequency and the prognostic impact of KIT D816V minor clones at diagnosis were not examined. In this study, the minor clones were examined and the prognostic significance of KIT D816V mutation in pediatric patients was investigated. Consequently, 24 KIT D816V mutations (7.2%) in 335 pediatric patients were identified, and 12 of 24 were only detected via the digital droplet polymerase chain reaction method. All 12 patients were confined in core binding factor (CBF)‐AML patients. The 5 year event‐free survival of the patients with KIT D816V mutation was significantly inferior to those without KIT D816V mutation (44.1% [95% confidence interval (CI), 16.0%–69.4%] vs. 74.7% [95% CI, 63.0%–83.2%] P‐value = 0.02, respectively). The 5 year overall survival was not different between the two groups (92.9% [95% CI, 59.0%–NA vs. 89.7% [95% CI, 69.6%–96.8%] P‐value = 0.607, respectively). In this study, KIT D816V minor clones in patients with CBF‐AML were confirmed and KIT D816V was considered as a risk factor for relapse in patients with RUNX1‐RUNX1T1‐positive AML.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1111/bjh.17569</identifier><identifier>PMID: 34120331</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>acute myeloid leukaemia ; Acute myeloid leukemia ; Adolescent ; Child ; Child, Preschool ; Core Binding Factor Alpha 2 Subunit - genetics ; droplet digital polymerase chain reaction ; Female ; Hematology ; Humans ; Infant ; Leukemia, Myeloid, Acute - epidemiology ; Leukemia, Myeloid, Acute - genetics ; Male ; Medical prognosis ; Mutation ; Myeloid leukemia ; Oncogene Proteins, Fusion - genetics ; paediatric ; Patients ; Pediatrics ; Point Mutation ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-kit - genetics ; Risk factors ; Runx1 protein ; RUNX1 Translocation Partner 1 Protein - genetics ; Survival ; Survival Analysis</subject><ispartof>British journal of haematology, 2021-07, Vol.194 (2), p.414-422</ispartof><rights>2021 British Society for Haematology and John Wiley & Sons Ltd</rights><rights>2021 British Society for Haematology and John Wiley & Sons Ltd.</rights><rights>Copyright © 2021 John Wiley & Sons Ltd</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3889-160018c5439f754fe8cb8cf859169a3e54105ea39a486b9c0930794da1c031453</citedby><cites>FETCH-LOGICAL-c3889-160018c5439f754fe8cb8cf859169a3e54105ea39a486b9c0930794da1c031453</cites><orcidid>0000-0003-2838-4555 ; 0000-0002-7578-006X ; 0000-0001-7271-3454 ; 0000-0002-4540-5277 ; 0000-0001-5738-4138 ; 0000-0003-1520-7007</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fbjh.17569$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fbjh.17569$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34120331$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sasaki, Koji</creatorcontrib><creatorcontrib>Tsujimoto, Shinichi</creatorcontrib><creatorcontrib>Miyake, Mayuko</creatorcontrib><creatorcontrib>Uchiyama, Yuri</creatorcontrib><creatorcontrib>Ikeda, Junji</creatorcontrib><creatorcontrib>Yoshitomi, Masahiro</creatorcontrib><creatorcontrib>Shimosato, Yuko</creatorcontrib><creatorcontrib>Tokumasu, Mayu</creatorcontrib><creatorcontrib>Matsuo, Hidemasa</creatorcontrib><creatorcontrib>Yoshida, Kenichi</creatorcontrib><creatorcontrib>Ohki, Kentaro</creatorcontrib><creatorcontrib>Kaburagi, Taeko</creatorcontrib><creatorcontrib>Yamato, Genki</creatorcontrib><creatorcontrib>Hara, Yusuke</creatorcontrib><creatorcontrib>Takeuchi, Masanobu</creatorcontrib><creatorcontrib>Kinoshita, Akitoshi</creatorcontrib><creatorcontrib>Tomizawa, Daisuke</creatorcontrib><creatorcontrib>Taga, Takashi</creatorcontrib><creatorcontrib>Adachi, Souichi</creatorcontrib><creatorcontrib>Tawa, Akio</creatorcontrib><creatorcontrib>Horibe, Keizo</creatorcontrib><creatorcontrib>Hayashi, Yasuhide</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><creatorcontrib>Ito, Shuichi</creatorcontrib><creatorcontrib>Shiba, Norio</creatorcontrib><title>Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>Summary
KIT D816V mutation within exon 17 has been particularly reported as one of the poor prognostic factors in pediatric acute myeloid leukemia (AML) with RUNX1‐RUNX1T1. The exact frequency and the prognostic impact of KIT D816V minor clones at diagnosis were not examined. In this study, the minor clones were examined and the prognostic significance of KIT D816V mutation in pediatric patients was investigated. Consequently, 24 KIT D816V mutations (7.2%) in 335 pediatric patients were identified, and 12 of 24 were only detected via the digital droplet polymerase chain reaction method. All 12 patients were confined in core binding factor (CBF)‐AML patients. The 5 year event‐free survival of the patients with KIT D816V mutation was significantly inferior to those without KIT D816V mutation (44.1% [95% confidence interval (CI), 16.0%–69.4%] vs. 74.7% [95% CI, 63.0%–83.2%] P‐value = 0.02, respectively). The 5 year overall survival was not different between the two groups (92.9% [95% CI, 59.0%–NA vs. 89.7% [95% CI, 69.6%–96.8%] P‐value = 0.607, respectively). In this study, KIT D816V minor clones in patients with CBF‐AML were confirmed and KIT D816V was considered as a risk factor for relapse in patients with RUNX1‐RUNX1T1‐positive AML.</description><subject>acute myeloid leukaemia</subject><subject>Acute myeloid leukemia</subject><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Core Binding Factor Alpha 2 Subunit - genetics</subject><subject>droplet digital polymerase chain reaction</subject><subject>Female</subject><subject>Hematology</subject><subject>Humans</subject><subject>Infant</subject><subject>Leukemia, Myeloid, Acute - epidemiology</subject><subject>Leukemia, Myeloid, Acute - genetics</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Mutation</subject><subject>Myeloid leukemia</subject><subject>Oncogene Proteins, Fusion - genetics</subject><subject>paediatric</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Proto-Oncogene Proteins c-kit - genetics</subject><subject>Risk factors</subject><subject>Runx1 protein</subject><subject>RUNX1 Translocation Partner 1 Protein - genetics</subject><subject>Survival</subject><subject>Survival Analysis</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kcFu1DAQhi0EotvCgRdAlrjAIa0ntrPJkbaUFiqQ0BZxi7zOpOvFiYPtqMqNR-BpeCCeBO-mcEBiLiP9_vRprJ-QZ8COIc3Jers5hqUsqgdkAbyQWQ4CHpIFY2yZARPlATkMYcsYcCbhMTngAnLGOSzIz3PvBouRNubWRGXp4OzUoVcBqd4o01OPSkfjeqpCUBNtnadxg7TBiHPu2n3QmT49aet63EXvr1b0vITiM02OQWFjVPRGU6XHmOAJrTMNtTh-VdgZRTEMqI2ydqJh4-5Mf0s_3Xz4Ar--_9jvFdDoVR-0N0MMT8ijVtmAT-_3Ebm5eLM6u8yuP769Ont9nWlellUGRfpzqaXgVbuUosVSr0vdlrKColIcpQAmUfFKibJYV5pVnC0r0SjQjIOQ_Ii8nL2Dd99GDLHuTNBorerRjaHOpWDLHHKRJ_TFP-jWjb5P1yVKghS54Dvhq5nS3oXgsa0HbzrlpxpYvSuzTmXW-zIT-_zeOK47bP6Sf9pLwMkM3BmL0_9N9em7y1n5GwwVqYs</recordid><startdate>202107</startdate><enddate>202107</enddate><creator>Sasaki, Koji</creator><creator>Tsujimoto, Shinichi</creator><creator>Miyake, Mayuko</creator><creator>Uchiyama, Yuri</creator><creator>Ikeda, Junji</creator><creator>Yoshitomi, Masahiro</creator><creator>Shimosato, Yuko</creator><creator>Tokumasu, Mayu</creator><creator>Matsuo, Hidemasa</creator><creator>Yoshida, Kenichi</creator><creator>Ohki, Kentaro</creator><creator>Kaburagi, Taeko</creator><creator>Yamato, Genki</creator><creator>Hara, Yusuke</creator><creator>Takeuchi, Masanobu</creator><creator>Kinoshita, Akitoshi</creator><creator>Tomizawa, Daisuke</creator><creator>Taga, Takashi</creator><creator>Adachi, Souichi</creator><creator>Tawa, Akio</creator><creator>Horibe, Keizo</creator><creator>Hayashi, Yasuhide</creator><creator>Matsumoto, Naomichi</creator><creator>Ito, Shuichi</creator><creator>Shiba, Norio</creator><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-2838-4555</orcidid><orcidid>https://orcid.org/0000-0002-7578-006X</orcidid><orcidid>https://orcid.org/0000-0001-7271-3454</orcidid><orcidid>https://orcid.org/0000-0002-4540-5277</orcidid><orcidid>https://orcid.org/0000-0001-5738-4138</orcidid><orcidid>https://orcid.org/0000-0003-1520-7007</orcidid></search><sort><creationdate>202107</creationdate><title>Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts</title><author>Sasaki, Koji ; Tsujimoto, Shinichi ; Miyake, Mayuko ; Uchiyama, Yuri ; Ikeda, Junji ; Yoshitomi, Masahiro ; Shimosato, Yuko ; Tokumasu, Mayu ; Matsuo, Hidemasa ; Yoshida, Kenichi ; Ohki, Kentaro ; Kaburagi, Taeko ; Yamato, Genki ; Hara, Yusuke ; Takeuchi, Masanobu ; Kinoshita, Akitoshi ; Tomizawa, Daisuke ; Taga, Takashi ; Adachi, Souichi ; Tawa, Akio ; Horibe, Keizo ; Hayashi, Yasuhide ; Matsumoto, Naomichi ; Ito, Shuichi ; Shiba, Norio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3889-160018c5439f754fe8cb8cf859169a3e54105ea39a486b9c0930794da1c031453</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>acute myeloid leukaemia</topic><topic>Acute myeloid leukemia</topic><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Core Binding Factor Alpha 2 Subunit - genetics</topic><topic>droplet digital polymerase chain reaction</topic><topic>Female</topic><topic>Hematology</topic><topic>Humans</topic><topic>Infant</topic><topic>Leukemia, Myeloid, Acute - epidemiology</topic><topic>Leukemia, Myeloid, Acute - genetics</topic><topic>Male</topic><topic>Medical prognosis</topic><topic>Mutation</topic><topic>Myeloid leukemia</topic><topic>Oncogene Proteins, Fusion - genetics</topic><topic>paediatric</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Proto-Oncogene Proteins c-kit - genetics</topic><topic>Risk factors</topic><topic>Runx1 protein</topic><topic>RUNX1 Translocation Partner 1 Protein - genetics</topic><topic>Survival</topic><topic>Survival Analysis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sasaki, Koji</creatorcontrib><creatorcontrib>Tsujimoto, Shinichi</creatorcontrib><creatorcontrib>Miyake, Mayuko</creatorcontrib><creatorcontrib>Uchiyama, Yuri</creatorcontrib><creatorcontrib>Ikeda, Junji</creatorcontrib><creatorcontrib>Yoshitomi, Masahiro</creatorcontrib><creatorcontrib>Shimosato, Yuko</creatorcontrib><creatorcontrib>Tokumasu, Mayu</creatorcontrib><creatorcontrib>Matsuo, Hidemasa</creatorcontrib><creatorcontrib>Yoshida, Kenichi</creatorcontrib><creatorcontrib>Ohki, Kentaro</creatorcontrib><creatorcontrib>Kaburagi, Taeko</creatorcontrib><creatorcontrib>Yamato, Genki</creatorcontrib><creatorcontrib>Hara, Yusuke</creatorcontrib><creatorcontrib>Takeuchi, Masanobu</creatorcontrib><creatorcontrib>Kinoshita, Akitoshi</creatorcontrib><creatorcontrib>Tomizawa, Daisuke</creatorcontrib><creatorcontrib>Taga, Takashi</creatorcontrib><creatorcontrib>Adachi, Souichi</creatorcontrib><creatorcontrib>Tawa, Akio</creatorcontrib><creatorcontrib>Horibe, Keizo</creatorcontrib><creatorcontrib>Hayashi, Yasuhide</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><creatorcontrib>Ito, Shuichi</creatorcontrib><creatorcontrib>Shiba, Norio</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sasaki, Koji</au><au>Tsujimoto, Shinichi</au><au>Miyake, Mayuko</au><au>Uchiyama, Yuri</au><au>Ikeda, Junji</au><au>Yoshitomi, Masahiro</au><au>Shimosato, Yuko</au><au>Tokumasu, Mayu</au><au>Matsuo, Hidemasa</au><au>Yoshida, Kenichi</au><au>Ohki, Kentaro</au><au>Kaburagi, Taeko</au><au>Yamato, Genki</au><au>Hara, Yusuke</au><au>Takeuchi, Masanobu</au><au>Kinoshita, Akitoshi</au><au>Tomizawa, Daisuke</au><au>Taga, Takashi</au><au>Adachi, Souichi</au><au>Tawa, Akio</au><au>Horibe, Keizo</au><au>Hayashi, Yasuhide</au><au>Matsumoto, Naomichi</au><au>Ito, Shuichi</au><au>Shiba, Norio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2021-07</date><risdate>2021</risdate><volume>194</volume><issue>2</issue><spage>414</spage><epage>422</epage><pages>414-422</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><abstract>Summary
KIT D816V mutation within exon 17 has been particularly reported as one of the poor prognostic factors in pediatric acute myeloid leukemia (AML) with RUNX1‐RUNX1T1. The exact frequency and the prognostic impact of KIT D816V minor clones at diagnosis were not examined. In this study, the minor clones were examined and the prognostic significance of KIT D816V mutation in pediatric patients was investigated. Consequently, 24 KIT D816V mutations (7.2%) in 335 pediatric patients were identified, and 12 of 24 were only detected via the digital droplet polymerase chain reaction method. All 12 patients were confined in core binding factor (CBF)‐AML patients. The 5 year event‐free survival of the patients with KIT D816V mutation was significantly inferior to those without KIT D816V mutation (44.1% [95% confidence interval (CI), 16.0%–69.4%] vs. 74.7% [95% CI, 63.0%–83.2%] P‐value = 0.02, respectively). The 5 year overall survival was not different between the two groups (92.9% [95% CI, 59.0%–NA vs. 89.7% [95% CI, 69.6%–96.8%] P‐value = 0.607, respectively). In this study, KIT D816V minor clones in patients with CBF‐AML were confirmed and KIT D816V was considered as a risk factor for relapse in patients with RUNX1‐RUNX1T1‐positive AML.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>34120331</pmid><doi>10.1111/bjh.17569</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0003-2838-4555</orcidid><orcidid>https://orcid.org/0000-0002-7578-006X</orcidid><orcidid>https://orcid.org/0000-0001-7271-3454</orcidid><orcidid>https://orcid.org/0000-0002-4540-5277</orcidid><orcidid>https://orcid.org/0000-0001-5738-4138</orcidid><orcidid>https://orcid.org/0000-0003-1520-7007</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | acute myeloid leukaemia Acute myeloid leukemia Adolescent Child Child, Preschool Core Binding Factor Alpha 2 Subunit - genetics droplet digital polymerase chain reaction Female Hematology Humans Infant Leukemia, Myeloid, Acute - epidemiology Leukemia, Myeloid, Acute - genetics Male Medical prognosis Mutation Myeloid leukemia Oncogene Proteins, Fusion - genetics paediatric Patients Pediatrics Point Mutation Polymerase Chain Reaction Proto-Oncogene Proteins c-kit - genetics Risk factors Runx1 protein RUNX1 Translocation Partner 1 Protein - genetics Survival Survival Analysis |
| title | Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts |
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