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 <i>BCR-ABL</i> and is present in more than 90% of CML patients. Most patients with CML express the protein p210 <i>BCR-ABL</i> and, with a frequency lower than 5%, express rare isofo...
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| Format: | Article |
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MDPI AG
2022-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/4/580 |
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| author | Samara Silveira da Cruz Aline Damasceno Seabra Lais Helena Rescinho Macambira Débora Monteiro Carneiro Patrícia Ferreira Nunes Thais Brilhante Pontes Fernando Augusto Rodrigues Mello-Junior Lucyana Barbosa Cardoso Leão Fernanda de Nazaré Cardoso dos Santos Cordeiro Thiago Xavier Carneiro Caroline Aquino Moreira-Nunes Rommel Mario Rodríguez Burbano |
| author_facet | Samara Silveira da Cruz Aline Damasceno Seabra Lais Helena Rescinho Macambira Débora Monteiro Carneiro Patrícia Ferreira Nunes Thais Brilhante Pontes Fernando Augusto Rodrigues Mello-Junior Lucyana Barbosa Cardoso Leão Fernanda de Nazaré Cardoso dos Santos Cordeiro Thiago Xavier Carneiro Caroline Aquino Moreira-Nunes Rommel Mario Rodríguez Burbano |
| author_sort | Samara Silveira da Cruz |
| collection | DOAJ |
| description | The Philadelphia (Ph+) chromosome, t(9;22)(q34;q11.2), originates from a chimeric gene called <i>BCR-ABL</i> and is present in more than 90% of CML patients. Most patients with CML express the protein p210 <i>BCR-ABL</i> 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 <i>BCR-ABL</i> transcript, with the concomitant presence of a double Ph+ chromosome, which was observed via conventional cytogenetics and confirmed by fluorescent in situ hybridization. The <i>BCR-ABL</i>/<i>ABL</i>% 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 <i>BCR-ABL</i> 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. |
| first_indexed | 2024-03-09T10:35:52Z |
| format | Article |
| id | doaj.art-0dac6657b04243a2afe7c232da2939fc |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T10:35:52Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-0dac6657b04243a2afe7c232da2939fc2023-12-01T20:56:28ZengMDPI AGGenes2073-44252022-03-0113458010.3390/genes13040580Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion TranscriptsSamara Silveira da Cruz0Aline Damasceno Seabra1Lais Helena Rescinho Macambira2Débora Monteiro Carneiro3Patrícia Ferreira Nunes4Thais Brilhante Pontes5Fernando Augusto Rodrigues Mello-Junior6Lucyana Barbosa Cardoso Leão7Fernanda de Nazaré Cardoso dos Santos Cordeiro8Thiago Xavier Carneiro9Caroline Aquino Moreira-Nunes10Rommel Mario Rodríguez Burbano11Laboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilDepartment of Hematology, Ophir Loyola Hospital, Belém 66063-240, BrazilDepartment of Hematology, Ophir Loyola Hospital, Belém 66063-240, BrazilDepartment of Hematology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilLaboratory of Molecular Biology, Ophir Loyola Hospital, Belém 66063-240, BrazilThe Philadelphia (Ph+) chromosome, t(9;22)(q34;q11.2), originates from a chimeric gene called <i>BCR-ABL</i> and is present in more than 90% of CML patients. Most patients with CML express the protein p210 <i>BCR-ABL</i> 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 <i>BCR-ABL</i> transcript, with the concomitant presence of a double Ph+ chromosome, which was observed via conventional cytogenetics and confirmed by fluorescent in situ hybridization. The <i>BCR-ABL</i>/<i>ABL</i>% 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 <i>BCR-ABL</i> 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.https://www.mdpi.com/2073-4425/13/4/580chronic myeloid leukemiablast crisisdouble Philadelphia chromosomep210 and p190 coexpression |
| spellingShingle | Samara Silveira da Cruz Aline Damasceno Seabra Lais Helena Rescinho Macambira Débora Monteiro Carneiro Patrícia Ferreira Nunes Thais Brilhante Pontes Fernando Augusto Rodrigues Mello-Junior Lucyana Barbosa Cardoso Leão Fernanda de Nazaré Cardoso dos Santos Cordeiro Thiago Xavier Carneiro Caroline Aquino Moreira-Nunes Rommel Mario Rodríguez Burbano Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts Genes chronic myeloid leukemia blast crisis double Philadelphia chromosome p210 and p190 coexpression |
| title | Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts |
| title_full | Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts |
| title_fullStr | Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts |
| title_full_unstemmed | Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts |
| title_short | Chronic Myelogenous Leukemia with Double Philadelphia Chromosome and Coexpression of p210 and p190 Fusion Transcripts |
| title_sort | chronic myelogenous leukemia with double philadelphia chromosome and coexpression of p210 and p190 fusion transcripts |
| topic | chronic myeloid leukemia blast crisis double Philadelphia chromosome p210 and p190 coexpression |
| url | https://www.mdpi.com/2073-4425/13/4/580 |
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