Comparison Between Integrated Genomic DNA/RNA Profiling and Fluorescence In Situ Hybridization in the Detection of MYC, BCL-2, and BCL-6 Gene Rearrangements in Large B-Cell Lymphomas
Abstract Objectives To compare fluorescence in situ hybridization (FISH) and a commercially available sequencing assay for comprehensive genomic profiling (CGP) to determine the best approach to identify gene rearrangements (GRs) in large B-cell lymphomas (LBCLs). Methods Comparison of standard-of-c...
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| Veröffentlicht in: | American journal of clinical pathology 2020-02, Vol.153 (3), p.353-359 |
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| creator | Cassidy, Daniel P Chapman, Jennifer R Lopez, Rafael White, Kyle Fan, Yao-Shan Casas, Carmen Severson, Eric A Vega, Francisco |
| description | Abstract
Objectives
To compare fluorescence in situ hybridization (FISH) and a commercially available sequencing assay for comprehensive genomic profiling (CGP) to determine the best approach to identify gene rearrangements (GRs) in large B-cell lymphomas (LBCLs).
Methods
Comparison of standard-of-care FISH assays (including a two-probe approach for MYC; break-apart and fusion probes) and an integrated genomic DNA/RNA sequencing CGP approach on a set of 69 consecutive LBCL cases.
Results
CGP detected GRs, including those involving MYC (1), BCL-2 (3), and BCL-6 (3), not detected by FISH. FISH detected non–IgH-MYC (4) and BCL-6 (2) GRs that were not detected by CGP. In four instances, standalone CGP or FISH testing would have missed a double-hit lymphoma.
Conclusions
CGP was superior to FISH in the detection of IgH-MYC rearrangements but was inferior for the detection of non–IgH-MYC rearrangements. Our study demonstrates the rationale for development of a customized approach to identify GRs in LBCLs. |
| doi_str_mv | 10.1093/ajcp/aqz172 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7007318</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A617803915</galeid><oup_id>10.1093/ajcp/aqz172</oup_id><sourcerecordid>A617803915</sourcerecordid><originalsourceid>FETCH-LOGICAL-c507t-89dcfb2e2d0d884c0275f831fc3c9b2f4ce9fbbe6c1dc5946f988fcbd244a2663</originalsourceid><addsrcrecordid>eNp9kktv1DAUhSMEokNhxR5ZQkJINB0_8twgzaT0IQ0FFViwshznOuNRYqdO0mr6w_h9OJ1SKELIC1v2d87VvT5B8JLgQ4JzNhcb2c3F5Q1J6aNgRvKIhWlK6eNghjGmYU5Sthc86_sNxoRmOHoa7DGSpTRLyCz4Udi2E0731qAlDNcABp2ZAWonBqjQCRjbaomOzhfzi_MF-uys0o02NRKmQsfNaB30EowEr0Jf9DCi023pdKVvxKC9pzZoWAM6ggHk7YVV6OP34gAti1VID25tpmMylQJ0AcI5YWpowQz9pF4JVwNahgU0DVpt225tW9E_D54o0fTw4m7fD74df_hanIarTydnxWIVyhinQ5jllVQlBVrhKssiiWkaq4wRJZnMS6oiCbkqS0gkqWScR4nKs0zJsqJRJGiSsP3g_c63G8sWKt_p4ETDO6db4bbcCs0fvhi95rW94inGqZ-yN3h7Z-Ds5Qj9wFvtB9Y0woAde04ZwyzCNE89-vovdGNHZ3x7nEY0jpOERuw3VYsGuDbK-rpyMuWLhKQZZjmJPXX4D8qvCvx3WgP-F-Gh4N1OIJ3tewfqvkeC-RQzPsWM72Lm6Vd_juWe_ZUrD7zZAXbs_uv0E46N25M</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2425566243</pqid></control><display><type>article</type><title>Comparison Between Integrated Genomic DNA/RNA Profiling and Fluorescence In Situ Hybridization in the Detection of MYC, BCL-2, and BCL-6 Gene Rearrangements in Large B-Cell Lymphomas</title><source>MEDLINE</source><source>Oxford University Press Journals All Titles (1996-Current)</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Alma/SFX Local Collection</source><creator>Cassidy, Daniel P ; Chapman, Jennifer R ; Lopez, Rafael ; White, Kyle ; Fan, Yao-Shan ; Casas, Carmen ; Severson, Eric A ; Vega, Francisco</creator><creatorcontrib>Cassidy, Daniel P ; Chapman, Jennifer R ; Lopez, Rafael ; White, Kyle ; Fan, Yao-Shan ; Casas, Carmen ; Severson, Eric A ; Vega, Francisco</creatorcontrib><description>Abstract
Objectives
To compare fluorescence in situ hybridization (FISH) and a commercially available sequencing assay for comprehensive genomic profiling (CGP) to determine the best approach to identify gene rearrangements (GRs) in large B-cell lymphomas (LBCLs).
Methods
Comparison of standard-of-care FISH assays (including a two-probe approach for MYC; break-apart and fusion probes) and an integrated genomic DNA/RNA sequencing CGP approach on a set of 69 consecutive LBCL cases.
Results
CGP detected GRs, including those involving MYC (1), BCL-2 (3), and BCL-6 (3), not detected by FISH. FISH detected non–IgH-MYC (4) and BCL-6 (2) GRs that were not detected by CGP. In four instances, standalone CGP or FISH testing would have missed a double-hit lymphoma.
Conclusions
CGP was superior to FISH in the detection of IgH-MYC rearrangements but was inferior for the detection of non–IgH-MYC rearrangements. Our study demonstrates the rationale for development of a customized approach to identify GRs in LBCLs.</description><identifier>ISSN: 0002-9173</identifier><identifier>EISSN: 1943-7722</identifier><identifier>DOI: 10.1093/ajcp/aqz172</identifier><identifier>PMID: 31872861</identifier><language>eng</language><publisher>US: Oxford University Press</publisher><subject>Adult ; Aged ; Aged, 80 and over ; B-cell lymphoma ; Bcl-2 protein ; BCL-6 gene ; Bcl-6 protein ; Comparative analysis ; Deoxyribonucleic acid ; Diagnosis ; DNA ; DNA fingerprinting ; DNA probes ; DNA sequencing ; Female ; Fluorescence in situ hybridization ; Gene Rearrangement ; Genetic aspects ; Genetic Profile ; Heavy chains ; Humans ; Immunoglobulins ; In Situ Hybridization, Fluorescence ; Lymphocytes B ; Lymphoma ; Lymphoma, Large B-Cell, Diffuse - diagnosis ; Lymphoma, Large B-Cell, Diffuse - genetics ; Lymphoma, Large B-Cell, Diffuse - pathology ; Lymphomas ; Male ; Medical prognosis ; Middle Aged ; Myc protein ; Nucleotide sequencing ; Original ; Proto-Oncogene Proteins c-bcl-2 - genetics ; Proto-Oncogene Proteins c-bcl-6 - genetics ; Proto-Oncogene Proteins c-myc - genetics ; Ribonucleic acid ; RNA ; RNA sequencing</subject><ispartof>American journal of clinical pathology, 2020-02, Vol.153 (3), p.353-359</ispartof><rights>American Society for Clinical Pathology, 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com 2019</rights><rights>American Society for Clinical Pathology, 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.</rights><rights>COPYRIGHT 2020 Oxford University Press</rights><rights>American Society for Clinical Pathology, 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c507t-89dcfb2e2d0d884c0275f831fc3c9b2f4ce9fbbe6c1dc5946f988fcbd244a2663</citedby><cites>FETCH-LOGICAL-c507t-89dcfb2e2d0d884c0275f831fc3c9b2f4ce9fbbe6c1dc5946f988fcbd244a2663</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,1584,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31872861$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cassidy, Daniel P</creatorcontrib><creatorcontrib>Chapman, Jennifer R</creatorcontrib><creatorcontrib>Lopez, Rafael</creatorcontrib><creatorcontrib>White, Kyle</creatorcontrib><creatorcontrib>Fan, Yao-Shan</creatorcontrib><creatorcontrib>Casas, Carmen</creatorcontrib><creatorcontrib>Severson, Eric A</creatorcontrib><creatorcontrib>Vega, Francisco</creatorcontrib><title>Comparison Between Integrated Genomic DNA/RNA Profiling and Fluorescence In Situ Hybridization in the Detection of MYC, BCL-2, and BCL-6 Gene Rearrangements in Large B-Cell Lymphomas</title><title>American journal of clinical pathology</title><addtitle>Am J Clin Pathol</addtitle><description>Abstract
Objectives
To compare fluorescence in situ hybridization (FISH) and a commercially available sequencing assay for comprehensive genomic profiling (CGP) to determine the best approach to identify gene rearrangements (GRs) in large B-cell lymphomas (LBCLs).
Methods
Comparison of standard-of-care FISH assays (including a two-probe approach for MYC; break-apart and fusion probes) and an integrated genomic DNA/RNA sequencing CGP approach on a set of 69 consecutive LBCL cases.
Results
CGP detected GRs, including those involving MYC (1), BCL-2 (3), and BCL-6 (3), not detected by FISH. FISH detected non–IgH-MYC (4) and BCL-6 (2) GRs that were not detected by CGP. In four instances, standalone CGP or FISH testing would have missed a double-hit lymphoma.
Conclusions
CGP was superior to FISH in the detection of IgH-MYC rearrangements but was inferior for the detection of non–IgH-MYC rearrangements. Our study demonstrates the rationale for development of a customized approach to identify GRs in LBCLs.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>B-cell lymphoma</subject><subject>Bcl-2 protein</subject><subject>BCL-6 gene</subject><subject>Bcl-6 protein</subject><subject>Comparative analysis</subject><subject>Deoxyribonucleic acid</subject><subject>Diagnosis</subject><subject>DNA</subject><subject>DNA fingerprinting</subject><subject>DNA probes</subject><subject>DNA sequencing</subject><subject>Female</subject><subject>Fluorescence in situ hybridization</subject><subject>Gene Rearrangement</subject><subject>Genetic aspects</subject><subject>Genetic Profile</subject><subject>Heavy chains</subject><subject>Humans</subject><subject>Immunoglobulins</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Lymphocytes B</subject><subject>Lymphoma</subject><subject>Lymphoma, Large B-Cell, Diffuse - diagnosis</subject><subject>Lymphoma, Large B-Cell, Diffuse - genetics</subject><subject>Lymphoma, Large B-Cell, Diffuse - pathology</subject><subject>Lymphomas</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Middle Aged</subject><subject>Myc protein</subject><subject>Nucleotide sequencing</subject><subject>Original</subject><subject>Proto-Oncogene Proteins c-bcl-2 - genetics</subject><subject>Proto-Oncogene Proteins c-bcl-6 - genetics</subject><subject>Proto-Oncogene Proteins c-myc - genetics</subject><subject>Ribonucleic acid</subject><subject>RNA</subject><subject>RNA sequencing</subject><issn>0002-9173</issn><issn>1943-7722</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kktv1DAUhSMEokNhxR5ZQkJINB0_8twgzaT0IQ0FFViwshznOuNRYqdO0mr6w_h9OJ1SKELIC1v2d87VvT5B8JLgQ4JzNhcb2c3F5Q1J6aNgRvKIhWlK6eNghjGmYU5Sthc86_sNxoRmOHoa7DGSpTRLyCz4Udi2E0731qAlDNcABp2ZAWonBqjQCRjbaomOzhfzi_MF-uys0o02NRKmQsfNaB30EowEr0Jf9DCi023pdKVvxKC9pzZoWAM6ggHk7YVV6OP34gAti1VID25tpmMylQJ0AcI5YWpowQz9pF4JVwNahgU0DVpt225tW9E_D54o0fTw4m7fD74df_hanIarTydnxWIVyhinQ5jllVQlBVrhKssiiWkaq4wRJZnMS6oiCbkqS0gkqWScR4nKs0zJsqJRJGiSsP3g_c63G8sWKt_p4ETDO6db4bbcCs0fvhi95rW94inGqZ-yN3h7Z-Ds5Qj9wFvtB9Y0woAde04ZwyzCNE89-vovdGNHZ3x7nEY0jpOERuw3VYsGuDbK-rpyMuWLhKQZZjmJPXX4D8qvCvx3WgP-F-Gh4N1OIJ3tewfqvkeC-RQzPsWM72Lm6Vd_juWe_ZUrD7zZAXbs_uv0E46N25M</recordid><startdate>20200208</startdate><enddate>20200208</enddate><creator>Cassidy, Daniel P</creator><creator>Chapman, Jennifer R</creator><creator>Lopez, Rafael</creator><creator>White, Kyle</creator><creator>Fan, Yao-Shan</creator><creator>Casas, Carmen</creator><creator>Severson, Eric A</creator><creator>Vega, Francisco</creator><general>Oxford University Press</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>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</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>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></search><sort><creationdate>20200208</creationdate><title>Comparison Between Integrated Genomic DNA/RNA Profiling and Fluorescence In Situ Hybridization in the Detection of MYC, BCL-2, and BCL-6 Gene Rearrangements in Large B-Cell Lymphomas</title><author>Cassidy, Daniel P ; Chapman, Jennifer R ; Lopez, Rafael ; White, Kyle ; Fan, Yao-Shan ; Casas, Carmen ; Severson, Eric A ; Vega, Francisco</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c507t-89dcfb2e2d0d884c0275f831fc3c9b2f4ce9fbbe6c1dc5946f988fcbd244a2663</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>B-cell lymphoma</topic><topic>Bcl-2 protein</topic><topic>BCL-6 gene</topic><topic>Bcl-6 protein</topic><topic>Comparative analysis</topic><topic>Deoxyribonucleic acid</topic><topic>Diagnosis</topic><topic>DNA</topic><topic>DNA fingerprinting</topic><topic>DNA probes</topic><topic>DNA sequencing</topic><topic>Female</topic><topic>Fluorescence in situ hybridization</topic><topic>Gene Rearrangement</topic><topic>Genetic aspects</topic><topic>Genetic Profile</topic><topic>Heavy chains</topic><topic>Humans</topic><topic>Immunoglobulins</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Lymphocytes B</topic><topic>Lymphoma</topic><topic>Lymphoma, Large B-Cell, Diffuse - diagnosis</topic><topic>Lymphoma, Large B-Cell, Diffuse - genetics</topic><topic>Lymphoma, Large B-Cell, Diffuse - pathology</topic><topic>Lymphomas</topic><topic>Male</topic><topic>Medical prognosis</topic><topic>Middle Aged</topic><topic>Myc protein</topic><topic>Nucleotide sequencing</topic><topic>Original</topic><topic>Proto-Oncogene Proteins c-bcl-2 - genetics</topic><topic>Proto-Oncogene Proteins c-bcl-6 - genetics</topic><topic>Proto-Oncogene Proteins c-myc - genetics</topic><topic>Ribonucleic acid</topic><topic>RNA</topic><topic>RNA sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cassidy, Daniel P</creatorcontrib><creatorcontrib>Chapman, Jennifer R</creatorcontrib><creatorcontrib>Lopez, Rafael</creatorcontrib><creatorcontrib>White, Kyle</creatorcontrib><creatorcontrib>Fan, Yao-Shan</creatorcontrib><creatorcontrib>Casas, Carmen</creatorcontrib><creatorcontrib>Severson, Eric A</creatorcontrib><creatorcontrib>Vega, Francisco</creatorcontrib><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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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>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>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>American journal of clinical pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cassidy, Daniel P</au><au>Chapman, Jennifer R</au><au>Lopez, Rafael</au><au>White, Kyle</au><au>Fan, Yao-Shan</au><au>Casas, Carmen</au><au>Severson, Eric A</au><au>Vega, Francisco</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Comparison Between Integrated Genomic DNA/RNA Profiling and Fluorescence In Situ Hybridization in the Detection of MYC, BCL-2, and BCL-6 Gene Rearrangements in Large B-Cell Lymphomas</atitle><jtitle>American journal of clinical pathology</jtitle><addtitle>Am J Clin Pathol</addtitle><date>2020-02-08</date><risdate>2020</risdate><volume>153</volume><issue>3</issue><spage>353</spage><epage>359</epage><pages>353-359</pages><issn>0002-9173</issn><eissn>1943-7722</eissn><abstract>Abstract
Objectives
To compare fluorescence in situ hybridization (FISH) and a commercially available sequencing assay for comprehensive genomic profiling (CGP) to determine the best approach to identify gene rearrangements (GRs) in large B-cell lymphomas (LBCLs).
Methods
Comparison of standard-of-care FISH assays (including a two-probe approach for MYC; break-apart and fusion probes) and an integrated genomic DNA/RNA sequencing CGP approach on a set of 69 consecutive LBCL cases.
Results
CGP detected GRs, including those involving MYC (1), BCL-2 (3), and BCL-6 (3), not detected by FISH. FISH detected non–IgH-MYC (4) and BCL-6 (2) GRs that were not detected by CGP. In four instances, standalone CGP or FISH testing would have missed a double-hit lymphoma.
Conclusions
CGP was superior to FISH in the detection of IgH-MYC rearrangements but was inferior for the detection of non–IgH-MYC rearrangements. Our study demonstrates the rationale for development of a customized approach to identify GRs in LBCLs.</abstract><cop>US</cop><pub>Oxford University Press</pub><pmid>31872861</pmid><doi>10.1093/ajcp/aqz172</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | American journal of clinical pathology, 2020-02, Vol.153 (3), p.353-359 |
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| subjects | Adult Aged Aged, 80 and over B-cell lymphoma Bcl-2 protein BCL-6 gene Bcl-6 protein Comparative analysis Deoxyribonucleic acid Diagnosis DNA DNA fingerprinting DNA probes DNA sequencing Female Fluorescence in situ hybridization Gene Rearrangement Genetic aspects Genetic Profile Heavy chains Humans Immunoglobulins In Situ Hybridization, Fluorescence Lymphocytes B Lymphoma Lymphoma, Large B-Cell, Diffuse - diagnosis Lymphoma, Large B-Cell, Diffuse - genetics Lymphoma, Large B-Cell, Diffuse - pathology Lymphomas Male Medical prognosis Middle Aged Myc protein Nucleotide sequencing Original Proto-Oncogene Proteins c-bcl-2 - genetics Proto-Oncogene Proteins c-bcl-6 - genetics Proto-Oncogene Proteins c-myc - genetics Ribonucleic acid RNA RNA sequencing |
| title | Comparison Between Integrated Genomic DNA/RNA Profiling and Fluorescence In Situ Hybridization in the Detection of MYC, BCL-2, and BCL-6 Gene Rearrangements in Large B-Cell Lymphomas |
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