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Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts
The Philadelphia (Ph+) chromosome, t(9;22)(q34;q11.2), originates from a chimeric gene called and is present in more than 90% of CML patients. Most patients with CML express the protein p210 and, with a frequency lower than 5%, express rare isoforms, the main one being p190. In the transition from t...
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Published in: | Genes 2022-03, Vol.13 (4), p.580 |
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creator | Cruz, Samara Silveira da Seabra, Aline Damasceno Macambira, Lais Helena Rescinho Carneiro, Débora Monteiro Nunes, Patrícia Ferreira Pontes, Thais Brilhante Mello-Junior, Fernando Augusto Rodrigues Leão, Lucyana Barbosa Cardoso Cordeiro, Fernanda de Nazaré Cardoso Dos Santos Carneiro, Thiago Xavier Moreira-Nunes, Caroline Aquino Burbano, Rommel Mario Rodríguez |
description | The Philadelphia (Ph+) chromosome, t(9;22)(q34;q11.2), originates from a chimeric gene called
and is present in more than 90% of CML patients. Most patients with CML express the protein p210
and, with a frequency lower than 5%, express rare isoforms, the main one being p190. In the transition from the chronic phase to the blast phase (BP), additional chromosomal abnormalities, such as the presence of the double Ph+ chromosome, are revealed. Of the 1132 patients analyzed via molecular biology in this study, two patients (0.17%) showed the co-expression of the p210 and p190 isoforms for the
transcript, with the concomitant presence of a double Ph+ chromosome, which was observed via conventional cytogenetics and confirmed by fluorescent in situ hybridization. The
/
% p210 and p190 ratio increased in these two patients from diagnosis to progression to blast crisis. To our knowledge, this is the first report in the literature of patients who co-expressed the two main
transcript isoforms and concomitantly presented Ph+ chromosome duplication. The evolution from the chronic phase to BP often occurs within 5 to 7 years, and, in this study, the evolution to BP was earlier, since disease-free survival was on average 4.5 months and overall survival was on average 9.5 months. The presence of the p190 transcript and the double Ph+ chromosome in CML may be related to the vertiginous progression of the disease. |
doi_str_mv | 10.3390/genes13040580 |
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and is present in more than 90% of CML patients. Most patients with CML express the protein p210
and, with a frequency lower than 5%, express rare isoforms, the main one being p190. In the transition from the chronic phase to the blast phase (BP), additional chromosomal abnormalities, such as the presence of the double Ph+ chromosome, are revealed. Of the 1132 patients analyzed via molecular biology in this study, two patients (0.17%) showed the co-expression of the p210 and p190 isoforms for the
transcript, with the concomitant presence of a double Ph+ chromosome, which was observed via conventional cytogenetics and confirmed by fluorescent in situ hybridization. The
/
% p210 and p190 ratio increased in these two patients from diagnosis to progression to blast crisis. To our knowledge, this is the first report in the literature of patients who co-expressed the two main
transcript isoforms and concomitantly presented Ph+ chromosome duplication. The evolution from the chronic phase to BP often occurs within 5 to 7 years, and, in this study, the evolution to BP was earlier, since disease-free survival was on average 4.5 months and overall survival was on average 9.5 months. The presence of the p190 transcript and the double Ph+ chromosome in CML may be related to the vertiginous progression of the disease.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes13040580</identifier><identifier>PMID: 35456386</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>BCR-ABL protein ; Blast crisis ; Blast Crisis - genetics ; Bone marrow ; Chromosome aberrations ; Chromosomes ; Chronic myeloid leukemia ; Cytogenetics ; Dehydrogenases ; Ethanol ; Fluorescence in situ hybridization ; Fusion protein ; Fusion Proteins, bcr-abl - genetics ; Gene duplication ; GTP-binding protein ; Humans ; Hybridization ; In Situ Hybridization, Fluorescence ; Isoforms ; Kinases ; Laboratories ; Leukemia ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics ; Life sciences ; Medical prognosis ; Myeloid leukemia ; Patients ; Philadelphia Chromosome ; Protein Isoforms - genetics ; Proteins ; Survival ; Transcription</subject><ispartof>Genes, 2022-03, Vol.13 (4), p.580</ispartof><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 by the authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c301t-391f37c89e5d5d0fd77e24196993e6f95d1c9b2969cdfe77ccdad36d53e61a133</cites><orcidid>0000-0002-8137-1596 ; 0000-0001-5845-3481 ; 0000-0003-2199-4246 ; 0000-0002-4872-234X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2652993198/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2652993198?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793,75126</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35456386$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cruz, Samara Silveira da</creatorcontrib><creatorcontrib>Seabra, Aline Damasceno</creatorcontrib><creatorcontrib>Macambira, Lais Helena Rescinho</creatorcontrib><creatorcontrib>Carneiro, Débora Monteiro</creatorcontrib><creatorcontrib>Nunes, Patrícia Ferreira</creatorcontrib><creatorcontrib>Pontes, Thais Brilhante</creatorcontrib><creatorcontrib>Mello-Junior, Fernando Augusto Rodrigues</creatorcontrib><creatorcontrib>Leão, Lucyana Barbosa Cardoso</creatorcontrib><creatorcontrib>Cordeiro, Fernanda de Nazaré Cardoso Dos Santos</creatorcontrib><creatorcontrib>Carneiro, Thiago Xavier</creatorcontrib><creatorcontrib>Moreira-Nunes, Caroline Aquino</creatorcontrib><creatorcontrib>Burbano, Rommel Mario Rodríguez</creatorcontrib><title>Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>The Philadelphia (Ph+) chromosome, t(9;22)(q34;q11.2), originates from a chimeric gene called
and is present in more than 90% of CML patients. Most patients with CML express the protein p210
and, with a frequency lower than 5%, express rare isoforms, the main one being p190. In the transition from the chronic phase to the blast phase (BP), additional chromosomal abnormalities, such as the presence of the double Ph+ chromosome, are revealed. Of the 1132 patients analyzed via molecular biology in this study, two patients (0.17%) showed the co-expression of the p210 and p190 isoforms for the
transcript, with the concomitant presence of a double Ph+ chromosome, which was observed via conventional cytogenetics and confirmed by fluorescent in situ hybridization. The
/
% p210 and p190 ratio increased in these two patients from diagnosis to progression to blast crisis. To our knowledge, this is the first report in the literature of patients who co-expressed the two main
transcript isoforms and concomitantly presented Ph+ chromosome duplication. The evolution from the chronic phase to BP often occurs within 5 to 7 years, and, in this study, the evolution to BP was earlier, since disease-free survival was on average 4.5 months and overall survival was on average 9.5 months. The presence of the p190 transcript and the double Ph+ chromosome in CML may be related to the vertiginous progression of the disease.</description><subject>BCR-ABL protein</subject><subject>Blast crisis</subject><subject>Blast Crisis - genetics</subject><subject>Bone marrow</subject><subject>Chromosome aberrations</subject><subject>Chromosomes</subject><subject>Chronic myeloid leukemia</subject><subject>Cytogenetics</subject><subject>Dehydrogenases</subject><subject>Ethanol</subject><subject>Fluorescence in situ hybridization</subject><subject>Fusion protein</subject><subject>Fusion Proteins, bcr-abl - genetics</subject><subject>Gene duplication</subject><subject>GTP-binding protein</subject><subject>Humans</subject><subject>Hybridization</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Isoforms</subject><subject>Kinases</subject><subject>Laboratories</subject><subject>Leukemia</subject><subject>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics</subject><subject>Life sciences</subject><subject>Medical prognosis</subject><subject>Myeloid leukemia</subject><subject>Patients</subject><subject>Philadelphia Chromosome</subject><subject>Protein Isoforms - genetics</subject><subject>Proteins</subject><subject>Survival</subject><subject>Transcription</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><recordid>eNpdkUtP3DAUha2KqiBg2W1liQ2btH7ESbxBQkOnrTSoLIa15bFviCGxg53Q8u_rgSkCvPHjfD669x6EPlPylXNJvt2Ah0Q5KYloyAd0wEjNi7JkYu_VeR8dp3RL8ioJI0R8QvtclKLiTXWA5kUXg3cGXz5CH7JfmBNewXwHg9P4j5s6fBHmTQ_4qnO9ttCPXRa2v4aQwgBYe4sXAf6OEVJywePQ4pFR8iSMVBK8nJ_e11H7ZKIbp3SEPra6T3C82w_R9fL7evGzWP3-8WtxvioMJ3QquKQtr00jQVhhSWvrGlhJZSUlh6qVwlIjNyzfjW2hro2x2vLKiqxSTTk_RGfPvuO8GcAa8FPUvRqjG3R8VEE79VbxrlM34UFJwkQeUjY43RnEcD9DmtTgkoG-1x7ypBSrRMmasq5ZRk_eobdhjj63t6VYLpnKJlPFM2ViSClC-1IMJWqbqXqTaea_vO7ghf6fIP8HCKuefQ</recordid><startdate>20220325</startdate><enddate>20220325</enddate><creator>Cruz, Samara Silveira da</creator><creator>Seabra, Aline Damasceno</creator><creator>Macambira, Lais Helena Rescinho</creator><creator>Carneiro, Débora Monteiro</creator><creator>Nunes, Patrícia Ferreira</creator><creator>Pontes, Thais Brilhante</creator><creator>Mello-Junior, Fernando Augusto Rodrigues</creator><creator>Leão, Lucyana Barbosa Cardoso</creator><creator>Cordeiro, Fernanda de Nazaré Cardoso Dos Santos</creator><creator>Carneiro, Thiago Xavier</creator><creator>Moreira-Nunes, Caroline Aquino</creator><creator>Burbano, Rommel Mario Rodríguez</creator><general>MDPI AG</general><general>MDPI</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>8FD</scope><scope>8FE</scope><scope>8FH</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>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8137-1596</orcidid><orcidid>https://orcid.org/0000-0001-5845-3481</orcidid><orcidid>https://orcid.org/0000-0003-2199-4246</orcidid><orcidid>https://orcid.org/0000-0002-4872-234X</orcidid></search><sort><creationdate>20220325</creationdate><title>Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts</title><author>Cruz, Samara Silveira da ; Seabra, Aline Damasceno ; Macambira, Lais Helena Rescinho ; Carneiro, Débora Monteiro ; Nunes, Patrícia Ferreira ; Pontes, Thais Brilhante ; Mello-Junior, Fernando Augusto Rodrigues ; Leão, Lucyana Barbosa Cardoso ; Cordeiro, Fernanda de Nazaré Cardoso Dos Santos ; Carneiro, Thiago Xavier ; Moreira-Nunes, Caroline Aquino ; Burbano, Rommel Mario Rodríguez</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c301t-391f37c89e5d5d0fd77e24196993e6f95d1c9b2969cdfe77ccdad36d53e61a133</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>BCR-ABL protein</topic><topic>Blast crisis</topic><topic>Blast Crisis - genetics</topic><topic>Bone marrow</topic><topic>Chromosome aberrations</topic><topic>Chromosomes</topic><topic>Chronic myeloid leukemia</topic><topic>Cytogenetics</topic><topic>Dehydrogenases</topic><topic>Ethanol</topic><topic>Fluorescence in situ hybridization</topic><topic>Fusion protein</topic><topic>Fusion Proteins, bcr-abl - genetics</topic><topic>Gene duplication</topic><topic>GTP-binding protein</topic><topic>Humans</topic><topic>Hybridization</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Isoforms</topic><topic>Kinases</topic><topic>Laboratories</topic><topic>Leukemia</topic><topic>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics</topic><topic>Life sciences</topic><topic>Medical prognosis</topic><topic>Myeloid leukemia</topic><topic>Patients</topic><topic>Philadelphia Chromosome</topic><topic>Protein Isoforms - genetics</topic><topic>Proteins</topic><topic>Survival</topic><topic>Transcription</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cruz, Samara Silveira da</creatorcontrib><creatorcontrib>Seabra, Aline Damasceno</creatorcontrib><creatorcontrib>Macambira, Lais Helena Rescinho</creatorcontrib><creatorcontrib>Carneiro, Débora Monteiro</creatorcontrib><creatorcontrib>Nunes, Patrícia Ferreira</creatorcontrib><creatorcontrib>Pontes, Thais Brilhante</creatorcontrib><creatorcontrib>Mello-Junior, Fernando Augusto Rodrigues</creatorcontrib><creatorcontrib>Leão, Lucyana Barbosa Cardoso</creatorcontrib><creatorcontrib>Cordeiro, Fernanda de Nazaré Cardoso Dos Santos</creatorcontrib><creatorcontrib>Carneiro, Thiago Xavier</creatorcontrib><creatorcontrib>Moreira-Nunes, Caroline Aquino</creatorcontrib><creatorcontrib>Burbano, Rommel Mario Rodríguez</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</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>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>Biological Sciences</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content (ProQuest)</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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cruz, Samara Silveira da</au><au>Seabra, Aline Damasceno</au><au>Macambira, Lais Helena Rescinho</au><au>Carneiro, Débora Monteiro</au><au>Nunes, Patrícia Ferreira</au><au>Pontes, Thais Brilhante</au><au>Mello-Junior, Fernando Augusto Rodrigues</au><au>Leão, Lucyana Barbosa Cardoso</au><au>Cordeiro, Fernanda de Nazaré Cardoso Dos Santos</au><au>Carneiro, Thiago Xavier</au><au>Moreira-Nunes, Caroline Aquino</au><au>Burbano, Rommel Mario Rodríguez</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2022-03-25</date><risdate>2022</risdate><volume>13</volume><issue>4</issue><spage>580</spage><pages>580-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>The Philadelphia (Ph+) chromosome, t(9;22)(q34;q11.2), originates from a chimeric gene called
and is present in more than 90% of CML patients. Most patients with CML express the protein p210
and, with a frequency lower than 5%, express rare isoforms, the main one being p190. In the transition from the chronic phase to the blast phase (BP), additional chromosomal abnormalities, such as the presence of the double Ph+ chromosome, are revealed. Of the 1132 patients analyzed via molecular biology in this study, two patients (0.17%) showed the co-expression of the p210 and p190 isoforms for the
transcript, with the concomitant presence of a double Ph+ chromosome, which was observed via conventional cytogenetics and confirmed by fluorescent in situ hybridization. The
/
% p210 and p190 ratio increased in these two patients from diagnosis to progression to blast crisis. To our knowledge, this is the first report in the literature of patients who co-expressed the two main
transcript isoforms and concomitantly presented Ph+ chromosome duplication. The evolution from the chronic phase to BP often occurs within 5 to 7 years, and, in this study, the evolution to BP was earlier, since disease-free survival was on average 4.5 months and overall survival was on average 9.5 months. The presence of the p190 transcript and the double Ph+ chromosome in CML may be related to the vertiginous progression of the disease.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>35456386</pmid><doi>10.3390/genes13040580</doi><orcidid>https://orcid.org/0000-0002-8137-1596</orcidid><orcidid>https://orcid.org/0000-0001-5845-3481</orcidid><orcidid>https://orcid.org/0000-0003-2199-4246</orcidid><orcidid>https://orcid.org/0000-0002-4872-234X</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | BCR-ABL protein Blast crisis Blast Crisis - genetics Bone marrow Chromosome aberrations Chromosomes Chronic myeloid leukemia Cytogenetics Dehydrogenases Ethanol Fluorescence in situ hybridization Fusion protein Fusion Proteins, bcr-abl - genetics Gene duplication GTP-binding protein Humans Hybridization In Situ Hybridization, Fluorescence Isoforms Kinases Laboratories Leukemia Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics Life sciences Medical prognosis Myeloid leukemia Patients Philadelphia Chromosome Protein Isoforms - genetics Proteins Survival Transcription |
title | Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts |
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