Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions
Background ABL-class fusions including NUP214-ABL1 and EBF1-PDGFRB occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to BCR-ABL -positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and IKZF1 -d...
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| Veröffentlicht in: | British journal of cancer 2022-09, Vol.127 (5), p.908-915 |
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| creator | Venn, Nicola C. Huang, Libby Hovorková, Lenka Muskovic, Walter Wong, Marie Law, Tamara Heatley, Susan L. Khaw, Seong Lin Revesz, Tom Dalla Pozza, Luciano Shaw, Peter J. Fraser, Chris Moore, Andrew S. Cross, Siobhan Bendak, Katerina Norris, Murray D. Henderson, Michelle J. White, Deborah L. Cowley, Mark J. Trahair, Toby N. Zuna, Jan Sutton, Rosemary |
| description | Background
ABL-class fusions including
NUP214-ABL1
and
EBF1-PDGFRB
occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to
BCR-ABL
-positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and
IKZF1
-deletions in comparison with conventional immunoglobulin/T-cell receptor (Ig/TCR) markers.
Methods
Precise genomic breakpoints were defined from targeted or whole genome next generation sequencing for ABL-fusions and
BCR-ABL1
. Quantitative PCR assays were designed and used to re-measure MRD in remission bone marrow samples previously tested using Ig/TCR markers. All MRD testing complied with EuroMRD guidelines.
Results
ABL-class patients had 46% 5year event-free survival and 79% 5year overall survival. All had sensitive fusion tests giving high concordance between Ig/TCR and ABL-class fusion results (21 patients,
n
= 257 samples, r2 = 0.9786,
P
|
| doi_str_mv | 10.1038/s41416-022-01806-6 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9427854</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2672705237</sourcerecordid><originalsourceid>FETCH-LOGICAL-c474t-286d5639d83c763c2a659068e291fd2cb2fb7164b23be99db8a735b5144f444f3</originalsourceid><addsrcrecordid>eNp9kcuOFSEQhonROMfRF3BhSNy4aeUOvTGZmXhLxrjRNQGansNIX6QazXl70TOOl4ULUqHqq5-ifoQeU_KcEm5egKCCqo4w1hFqiOrUHbSjkrOOGqbvoh0hRHekZ-QEPQC4bteeGH0fnXCpJGFa79D6PjqoxfkccYmQhuoyHhK0bMRudvkACXCa8erikNxWUsAu1C3ifJjW_eKzg63lcqyfXZySa-CW4rwB_pa2PT47v-xCYwCPFdIyw0N0b3QZ4qObeIo-vX718eJtd_nhzbuLs0YLLbaOGTVIxfvB8KAVD8wp2RNlIuvpOLDg2eg1VcIz7mPfD944zaWXVIhRtMNP0cuj7lr9FIfQRiou27WkyZWDXVyyf1fmtLdXy1fbC6aNFE3g2Y1AWb7UCJudEoSYs5vjUsEypZkmknHd0Kf_oNdLLW15jdLENAeMZo1iRyqUBaDE8XYYSuwPQ-3RUNsMtT8Ntao1PfnzG7ctvxxsAD8C0ErzVSy_3_6P7HdjF62o</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2708092872</pqid></control><display><type>article</type><title>Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions</title><source>MEDLINE</source><source>SpringerLink Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Venn, Nicola C. ; Huang, Libby ; Hovorková, Lenka ; Muskovic, Walter ; Wong, Marie ; Law, Tamara ; Heatley, Susan L. ; Khaw, Seong Lin ; Revesz, Tom ; Dalla Pozza, Luciano ; Shaw, Peter J. ; Fraser, Chris ; Moore, Andrew S. ; Cross, Siobhan ; Bendak, Katerina ; Norris, Murray D. ; Henderson, Michelle J. ; White, Deborah L. ; Cowley, Mark J. ; Trahair, Toby N. ; Zuna, Jan ; Sutton, Rosemary</creator><creatorcontrib>Venn, Nicola C. ; Huang, Libby ; Hovorková, Lenka ; Muskovic, Walter ; Wong, Marie ; Law, Tamara ; Heatley, Susan L. ; Khaw, Seong Lin ; Revesz, Tom ; Dalla Pozza, Luciano ; Shaw, Peter J. ; Fraser, Chris ; Moore, Andrew S. ; Cross, Siobhan ; Bendak, Katerina ; Norris, Murray D. ; Henderson, Michelle J. ; White, Deborah L. ; Cowley, Mark J. ; Trahair, Toby N. ; Zuna, Jan ; Sutton, Rosemary</creatorcontrib><description>Background
ABL-class fusions including
NUP214-ABL1
and
EBF1-PDGFRB
occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to
BCR-ABL
-positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and
IKZF1
-deletions in comparison with conventional immunoglobulin/T-cell receptor (Ig/TCR) markers.
Methods
Precise genomic breakpoints were defined from targeted or whole genome next generation sequencing for ABL-fusions and
BCR-ABL1
. Quantitative PCR assays were designed and used to re-measure MRD in remission bone marrow samples previously tested using Ig/TCR markers. All MRD testing complied with EuroMRD guidelines.
Results
ABL-class patients had 46% 5year event-free survival and 79% 5year overall survival. All had sensitive fusion tests giving high concordance between Ig/TCR and ABL-class fusion results (21 patients,
n
= 257 samples, r2 = 0.9786,
P
< 0.0001) and Ig/TCR and
IKZF1
-deletion results (9 patients,
n
= 143 samples, r2 = 0.9661,
P
< 0.0001). In contrast, in
BCR-ABL1
patients, Ig/TCR and
BCR-ABL1
tests were discordant in 32% (40 patients,
n
= 346 samples, r2 = 0.4703,
P
< 0.0001) and
IKZF1
-deletion results were closer to Ig/TCR (25 patients,
n
= 176, r2 = 0.8631,
P
< 0.0001).
Conclusions
MRD monitoring based on patient-specific assays detecting gene fusions or recurrent assays for
IKZF1
-deletions is feasible and provides good alternatives to Ig/TCR tests to monitor MRD in ABL-class ALL.</description><identifier>ISSN: 0007-0920</identifier><identifier>ISSN: 1532-1827</identifier><identifier>EISSN: 1532-1827</identifier><identifier>DOI: 10.1038/s41416-022-01806-6</identifier><identifier>PMID: 35650277</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>692/4028/67/1990/283/2125 ; 692/53/2422 ; Acute lymphoblastic leukemia ; BCR-ABL protein ; Biomedical and Life Sciences ; Biomedicine ; Bone marrow ; Breakpoints ; Cancer Research ; Child ; Drug Resistance ; Epidemiology ; Fusion protein ; Fusion Proteins, bcr-abl - genetics ; Gene expression ; Humans ; Immunoglobulins ; Leukemia ; Lymphocytes T ; Molecular Medicine ; Neoplasm, Residual - genetics ; Next-generation sequencing ; Oncology ; Pediatrics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics ; Receptors, Antigen, T-Cell - genetics ; Remission ; T cell receptors</subject><ispartof>British journal of cancer, 2022-09, Vol.127 (5), p.908-915</ispartof><rights>The Author(s) 2022</rights><rights>2022. The Author(s).</rights><rights>The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/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-c474t-286d5639d83c763c2a659068e291fd2cb2fb7164b23be99db8a735b5144f444f3</citedby><cites>FETCH-LOGICAL-c474t-286d5639d83c763c2a659068e291fd2cb2fb7164b23be99db8a735b5144f444f3</cites><orcidid>0000-0002-0188-6005 ; 0000-0003-4844-333X ; 0000-0002-0632-4589 ; 0000-0002-9519-5714 ; 0000-0002-3103-9763 ; 0000-0002-3295-228X ; 0000-0001-7497-6477 ; 0000-0003-2741-3852 ; 0000-0001-8062-1779</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/PMC9427854/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9427854/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,41464,42533,51294,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35650277$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Venn, Nicola C.</creatorcontrib><creatorcontrib>Huang, Libby</creatorcontrib><creatorcontrib>Hovorková, Lenka</creatorcontrib><creatorcontrib>Muskovic, Walter</creatorcontrib><creatorcontrib>Wong, Marie</creatorcontrib><creatorcontrib>Law, Tamara</creatorcontrib><creatorcontrib>Heatley, Susan L.</creatorcontrib><creatorcontrib>Khaw, Seong Lin</creatorcontrib><creatorcontrib>Revesz, Tom</creatorcontrib><creatorcontrib>Dalla Pozza, Luciano</creatorcontrib><creatorcontrib>Shaw, Peter J.</creatorcontrib><creatorcontrib>Fraser, Chris</creatorcontrib><creatorcontrib>Moore, Andrew S.</creatorcontrib><creatorcontrib>Cross, Siobhan</creatorcontrib><creatorcontrib>Bendak, Katerina</creatorcontrib><creatorcontrib>Norris, Murray D.</creatorcontrib><creatorcontrib>Henderson, Michelle J.</creatorcontrib><creatorcontrib>White, Deborah L.</creatorcontrib><creatorcontrib>Cowley, Mark J.</creatorcontrib><creatorcontrib>Trahair, Toby N.</creatorcontrib><creatorcontrib>Zuna, Jan</creatorcontrib><creatorcontrib>Sutton, Rosemary</creatorcontrib><title>Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions</title><title>British journal of cancer</title><addtitle>Br J Cancer</addtitle><addtitle>Br J Cancer</addtitle><description>Background
ABL-class fusions including
NUP214-ABL1
and
EBF1-PDGFRB
occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to
BCR-ABL
-positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and
IKZF1
-deletions in comparison with conventional immunoglobulin/T-cell receptor (Ig/TCR) markers.
Methods
Precise genomic breakpoints were defined from targeted or whole genome next generation sequencing for ABL-fusions and
BCR-ABL1
. Quantitative PCR assays were designed and used to re-measure MRD in remission bone marrow samples previously tested using Ig/TCR markers. All MRD testing complied with EuroMRD guidelines.
Results
ABL-class patients had 46% 5year event-free survival and 79% 5year overall survival. All had sensitive fusion tests giving high concordance between Ig/TCR and ABL-class fusion results (21 patients,
n
= 257 samples, r2 = 0.9786,
P
< 0.0001) and Ig/TCR and
IKZF1
-deletion results (9 patients,
n
= 143 samples, r2 = 0.9661,
P
< 0.0001). In contrast, in
BCR-ABL1
patients, Ig/TCR and
BCR-ABL1
tests were discordant in 32% (40 patients,
n
= 346 samples, r2 = 0.4703,
P
< 0.0001) and
IKZF1
-deletion results were closer to Ig/TCR (25 patients,
n
= 176, r2 = 0.8631,
P
< 0.0001).
Conclusions
MRD monitoring based on patient-specific assays detecting gene fusions or recurrent assays for
IKZF1
-deletions is feasible and provides good alternatives to Ig/TCR tests to monitor MRD in ABL-class ALL.</description><subject>692/4028/67/1990/283/2125</subject><subject>692/53/2422</subject><subject>Acute lymphoblastic leukemia</subject><subject>BCR-ABL protein</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Bone marrow</subject><subject>Breakpoints</subject><subject>Cancer Research</subject><subject>Child</subject><subject>Drug Resistance</subject><subject>Epidemiology</subject><subject>Fusion protein</subject><subject>Fusion Proteins, bcr-abl - genetics</subject><subject>Gene expression</subject><subject>Humans</subject><subject>Immunoglobulins</subject><subject>Leukemia</subject><subject>Lymphocytes T</subject><subject>Molecular Medicine</subject><subject>Neoplasm, Residual - genetics</subject><subject>Next-generation sequencing</subject><subject>Oncology</subject><subject>Pediatrics</subject><subject>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</subject><subject>Receptors, Antigen, T-Cell - genetics</subject><subject>Remission</subject><subject>T cell receptors</subject><issn>0007-0920</issn><issn>1532-1827</issn><issn>1532-1827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9kcuOFSEQhonROMfRF3BhSNy4aeUOvTGZmXhLxrjRNQGansNIX6QazXl70TOOl4ULUqHqq5-ifoQeU_KcEm5egKCCqo4w1hFqiOrUHbSjkrOOGqbvoh0hRHekZ-QEPQC4bteeGH0fnXCpJGFa79D6PjqoxfkccYmQhuoyHhK0bMRudvkACXCa8erikNxWUsAu1C3ifJjW_eKzg63lcqyfXZySa-CW4rwB_pa2PT47v-xCYwCPFdIyw0N0b3QZ4qObeIo-vX718eJtd_nhzbuLs0YLLbaOGTVIxfvB8KAVD8wp2RNlIuvpOLDg2eg1VcIz7mPfD944zaWXVIhRtMNP0cuj7lr9FIfQRiou27WkyZWDXVyyf1fmtLdXy1fbC6aNFE3g2Y1AWb7UCJudEoSYs5vjUsEypZkmknHd0Kf_oNdLLW15jdLENAeMZo1iRyqUBaDE8XYYSuwPQ-3RUNsMtT8Ntao1PfnzG7ctvxxsAD8C0ErzVSy_3_6P7HdjF62o</recordid><startdate>20220901</startdate><enddate>20220901</enddate><creator>Venn, Nicola C.</creator><creator>Huang, Libby</creator><creator>Hovorková, Lenka</creator><creator>Muskovic, Walter</creator><creator>Wong, Marie</creator><creator>Law, Tamara</creator><creator>Heatley, Susan L.</creator><creator>Khaw, Seong Lin</creator><creator>Revesz, Tom</creator><creator>Dalla Pozza, Luciano</creator><creator>Shaw, Peter J.</creator><creator>Fraser, Chris</creator><creator>Moore, Andrew S.</creator><creator>Cross, Siobhan</creator><creator>Bendak, Katerina</creator><creator>Norris, Murray D.</creator><creator>Henderson, Michelle J.</creator><creator>White, Deborah L.</creator><creator>Cowley, Mark J.</creator><creator>Trahair, Toby N.</creator><creator>Zuna, Jan</creator><creator>Sutton, Rosemary</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><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>3V.</scope><scope>7RV</scope><scope>7TO</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0188-6005</orcidid><orcidid>https://orcid.org/0000-0003-4844-333X</orcidid><orcidid>https://orcid.org/0000-0002-0632-4589</orcidid><orcidid>https://orcid.org/0000-0002-9519-5714</orcidid><orcidid>https://orcid.org/0000-0002-3103-9763</orcidid><orcidid>https://orcid.org/0000-0002-3295-228X</orcidid><orcidid>https://orcid.org/0000-0001-7497-6477</orcidid><orcidid>https://orcid.org/0000-0003-2741-3852</orcidid><orcidid>https://orcid.org/0000-0001-8062-1779</orcidid></search><sort><creationdate>20220901</creationdate><title>Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions</title><author>Venn, Nicola C. ; Huang, Libby ; Hovorková, Lenka ; Muskovic, Walter ; Wong, Marie ; Law, Tamara ; Heatley, Susan L. ; Khaw, Seong Lin ; Revesz, Tom ; Dalla Pozza, Luciano ; Shaw, Peter J. ; Fraser, Chris ; Moore, Andrew S. ; Cross, Siobhan ; Bendak, Katerina ; Norris, Murray D. ; Henderson, Michelle J. ; White, Deborah L. ; Cowley, Mark J. ; Trahair, Toby N. ; Zuna, Jan ; Sutton, Rosemary</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c474t-286d5639d83c763c2a659068e291fd2cb2fb7164b23be99db8a735b5144f444f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>692/4028/67/1990/283/2125</topic><topic>692/53/2422</topic><topic>Acute lymphoblastic leukemia</topic><topic>BCR-ABL protein</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Bone marrow</topic><topic>Breakpoints</topic><topic>Cancer Research</topic><topic>Child</topic><topic>Drug Resistance</topic><topic>Epidemiology</topic><topic>Fusion protein</topic><topic>Fusion Proteins, bcr-abl - genetics</topic><topic>Gene expression</topic><topic>Humans</topic><topic>Immunoglobulins</topic><topic>Leukemia</topic><topic>Lymphocytes T</topic><topic>Molecular Medicine</topic><topic>Neoplasm, Residual - genetics</topic><topic>Next-generation sequencing</topic><topic>Oncology</topic><topic>Pediatrics</topic><topic>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</topic><topic>Receptors, Antigen, T-Cell - genetics</topic><topic>Remission</topic><topic>T cell receptors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Venn, Nicola C.</creatorcontrib><creatorcontrib>Huang, Libby</creatorcontrib><creatorcontrib>Hovorková, Lenka</creatorcontrib><creatorcontrib>Muskovic, Walter</creatorcontrib><creatorcontrib>Wong, Marie</creatorcontrib><creatorcontrib>Law, Tamara</creatorcontrib><creatorcontrib>Heatley, Susan L.</creatorcontrib><creatorcontrib>Khaw, Seong Lin</creatorcontrib><creatorcontrib>Revesz, Tom</creatorcontrib><creatorcontrib>Dalla Pozza, Luciano</creatorcontrib><creatorcontrib>Shaw, Peter J.</creatorcontrib><creatorcontrib>Fraser, Chris</creatorcontrib><creatorcontrib>Moore, Andrew S.</creatorcontrib><creatorcontrib>Cross, Siobhan</creatorcontrib><creatorcontrib>Bendak, Katerina</creatorcontrib><creatorcontrib>Norris, Murray D.</creatorcontrib><creatorcontrib>Henderson, Michelle J.</creatorcontrib><creatorcontrib>White, Deborah L.</creatorcontrib><creatorcontrib>Cowley, Mark J.</creatorcontrib><creatorcontrib>Trahair, Toby N.</creatorcontrib><creatorcontrib>Zuna, Jan</creatorcontrib><creatorcontrib>Sutton, Rosemary</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</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>British journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Venn, Nicola C.</au><au>Huang, Libby</au><au>Hovorková, Lenka</au><au>Muskovic, Walter</au><au>Wong, Marie</au><au>Law, Tamara</au><au>Heatley, Susan L.</au><au>Khaw, Seong Lin</au><au>Revesz, Tom</au><au>Dalla Pozza, Luciano</au><au>Shaw, Peter J.</au><au>Fraser, Chris</au><au>Moore, Andrew S.</au><au>Cross, Siobhan</au><au>Bendak, Katerina</au><au>Norris, Murray D.</au><au>Henderson, Michelle J.</au><au>White, Deborah L.</au><au>Cowley, Mark J.</au><au>Trahair, Toby N.</au><au>Zuna, Jan</au><au>Sutton, Rosemary</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions</atitle><jtitle>British journal of cancer</jtitle><stitle>Br J Cancer</stitle><addtitle>Br J Cancer</addtitle><date>2022-09-01</date><risdate>2022</risdate><volume>127</volume><issue>5</issue><spage>908</spage><epage>915</epage><pages>908-915</pages><issn>0007-0920</issn><issn>1532-1827</issn><eissn>1532-1827</eissn><abstract>Background
ABL-class fusions including
NUP214-ABL1
and
EBF1-PDGFRB
occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to
BCR-ABL
-positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and
IKZF1
-deletions in comparison with conventional immunoglobulin/T-cell receptor (Ig/TCR) markers.
Methods
Precise genomic breakpoints were defined from targeted or whole genome next generation sequencing for ABL-fusions and
BCR-ABL1
. Quantitative PCR assays were designed and used to re-measure MRD in remission bone marrow samples previously tested using Ig/TCR markers. All MRD testing complied with EuroMRD guidelines.
Results
ABL-class patients had 46% 5year event-free survival and 79% 5year overall survival. All had sensitive fusion tests giving high concordance between Ig/TCR and ABL-class fusion results (21 patients,
n
= 257 samples, r2 = 0.9786,
P
< 0.0001) and Ig/TCR and
IKZF1
-deletion results (9 patients,
n
= 143 samples, r2 = 0.9661,
P
< 0.0001). In contrast, in
BCR-ABL1
patients, Ig/TCR and
BCR-ABL1
tests were discordant in 32% (40 patients,
n
= 346 samples, r2 = 0.4703,
P
< 0.0001) and
IKZF1
-deletion results were closer to Ig/TCR (25 patients,
n
= 176, r2 = 0.8631,
P
< 0.0001).
Conclusions
MRD monitoring based on patient-specific assays detecting gene fusions or recurrent assays for
IKZF1
-deletions is feasible and provides good alternatives to Ig/TCR tests to monitor MRD in ABL-class ALL.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>35650277</pmid><doi>10.1038/s41416-022-01806-6</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-0188-6005</orcidid><orcidid>https://orcid.org/0000-0003-4844-333X</orcidid><orcidid>https://orcid.org/0000-0002-0632-4589</orcidid><orcidid>https://orcid.org/0000-0002-9519-5714</orcidid><orcidid>https://orcid.org/0000-0002-3103-9763</orcidid><orcidid>https://orcid.org/0000-0002-3295-228X</orcidid><orcidid>https://orcid.org/0000-0001-7497-6477</orcidid><orcidid>https://orcid.org/0000-0003-2741-3852</orcidid><orcidid>https://orcid.org/0000-0001-8062-1779</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0007-0920 |
| ispartof | British journal of cancer, 2022-09, Vol.127 (5), p.908-915 |
| issn | 0007-0920 1532-1827 1532-1827 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9427854 |
| source | MEDLINE; SpringerLink Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | 692/4028/67/1990/283/2125 692/53/2422 Acute lymphoblastic leukemia BCR-ABL protein Biomedical and Life Sciences Biomedicine Bone marrow Breakpoints Cancer Research Child Drug Resistance Epidemiology Fusion protein Fusion Proteins, bcr-abl - genetics Gene expression Humans Immunoglobulins Leukemia Lymphocytes T Molecular Medicine Neoplasm, Residual - genetics Next-generation sequencing Oncology Pediatrics Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics Receptors, Antigen, T-Cell - genetics Remission T cell receptors |
| title | Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-08T15%3A02%3A58IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Measurable%20residual%20disease%20analysis%20in%20paediatric%20acute%20lymphoblastic%20leukaemia%20patients%20with%20ABL-class%20fusions&rft.jtitle=British%20journal%20of%20cancer&rft.au=Venn,%20Nicola%20C.&rft.date=2022-09-01&rft.volume=127&rft.issue=5&rft.spage=908&rft.epage=915&rft.pages=908-915&rft.issn=0007-0920&rft.eissn=1532-1827&rft_id=info:doi/10.1038/s41416-022-01806-6&rft_dat=%3Cproquest_pubme%3E2672705237%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2708092872&rft_id=info:pmid/35650277&rfr_iscdi=true |