DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved
The landscape of chromosomal aberrations in the tumor cells of the patients with B-ALL is diverse and can influence the outcome of the disease. Molecular karyotyping at the onset of the disease using chromosomal microarray (CMA) is advisable to identify additional molecular factors associated with t...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-12-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/24/17602 |
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| author | Natalya Risinskaya Maria Gladysheva Abdulpatakh Abdulpatakhov Yulia Chabaeva Valeriya Surimova Olga Aleshina Anna Yushkova Olga Dubova Nikolay Kapranov Irina Galtseva Sergey Kulikov Tatiana Obukhova Andrey Sudarikov Elena Parovichnikova |
| author_facet | Natalya Risinskaya Maria Gladysheva Abdulpatakh Abdulpatakhov Yulia Chabaeva Valeriya Surimova Olga Aleshina Anna Yushkova Olga Dubova Nikolay Kapranov Irina Galtseva Sergey Kulikov Tatiana Obukhova Andrey Sudarikov Elena Parovichnikova |
| author_sort | Natalya Risinskaya |
| collection | DOAJ |
| description | The landscape of chromosomal aberrations in the tumor cells of the patients with B-ALL is diverse and can influence the outcome of the disease. Molecular karyotyping at the onset of the disease using chromosomal microarray (CMA) is advisable to identify additional molecular factors associated with the prognosis of the disease. Molecular karyotyping data for 36 patients with Ph-negative B-ALL who received therapy according to the ALL-2016 protocol are presented. We analyzed copy number alterations and their prognostic significance for <i>CDKN2A</i>/<i>B</i>, <i>DMRTA</i>, <i>DOCK8</i>, <i>TP53</i>, <i>SMARCA2</i>, <i>PAX5</i>, <i>XPA</i>, <i>FOXE1</i>, <i>HEMGN</i>, <i>USP45</i>, <i>RUNX1</i>, <i>NF1</i>, <i>IGF2BP1</i>, <i>ERG</i>, <i>TMPRSS2</i>, <i>CRLF2</i>, <i>FGFR3</i>, <i>FLNB</i>, <i>IKZF1</i>, <i>RUNX2</i>, <i>ARID1B</i>, <i>CIP2A</i>, <i>PIK3CA</i>, <i>ATM</i>, <i>RB1</i>, <i>BIRC3</i>, <i>MYC</i>, <i>IKZF3</i>, <i>ETV6</i>, <i>ZNF384</i>, <i>PTPRJ</i>, <i>CCL20</i>, <i>PAX3</i>, <i>MTCH2</i>, <i>TCF3</i>, <i>IKZF2</i>, <i>BTG1</i>, <i>BTG2</i>, <i>RAG1</i>, <i>RAG2</i>, <i>ELK3</i>, <i>SH2B3</i>, <i>EP300</i>, <i>MAP2K2</i>, <i>EBI3</i>, <i>MEF2D</i>, <i>MEF2C</i>, <i>CEBPA</i>, and <i>TBLXR1</i> genes, choosing t(4;11) and t(7;14) as reference events. Of the 36 patients, only 5 (13.8%) had a normal molecular karyotype, and 31 (86.2%) were found to have various molecular karyotype abnormalities—104 deletions, 90 duplications or amplifications, 29 cases of cnLOH and 7 biallelic/homozygous deletions. We found that 11q22-23 duplication involving the <i>BIRC3</i>, <i>ATM</i> and <i>MLL</i> genes was the most adverse prognostic event in the study cohort. |
| first_indexed | 2024-03-08T20:40:49Z |
| format | Article |
| id | doaj.art-6d65ee0987954a4ba510d54cb8a282bf |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-08T20:40:49Z |
| publishDate | 2023-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-6d65ee0987954a4ba510d54cb8a282bf2023-12-22T14:15:19ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-12-0124241760210.3390/ijms242417602DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes InvolvedNatalya Risinskaya0Maria Gladysheva1Abdulpatakh Abdulpatakhov2Yulia Chabaeva3Valeriya Surimova4Olga Aleshina5Anna Yushkova6Olga Dubova7Nikolay Kapranov8Irina Galtseva9Sergey Kulikov10Tatiana Obukhova11Andrey Sudarikov12Elena Parovichnikova13National Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaNational Medical Research Center for Hematology, 125167 Moscow, RussiaThe landscape of chromosomal aberrations in the tumor cells of the patients with B-ALL is diverse and can influence the outcome of the disease. Molecular karyotyping at the onset of the disease using chromosomal microarray (CMA) is advisable to identify additional molecular factors associated with the prognosis of the disease. Molecular karyotyping data for 36 patients with Ph-negative B-ALL who received therapy according to the ALL-2016 protocol are presented. We analyzed copy number alterations and their prognostic significance for <i>CDKN2A</i>/<i>B</i>, <i>DMRTA</i>, <i>DOCK8</i>, <i>TP53</i>, <i>SMARCA2</i>, <i>PAX5</i>, <i>XPA</i>, <i>FOXE1</i>, <i>HEMGN</i>, <i>USP45</i>, <i>RUNX1</i>, <i>NF1</i>, <i>IGF2BP1</i>, <i>ERG</i>, <i>TMPRSS2</i>, <i>CRLF2</i>, <i>FGFR3</i>, <i>FLNB</i>, <i>IKZF1</i>, <i>RUNX2</i>, <i>ARID1B</i>, <i>CIP2A</i>, <i>PIK3CA</i>, <i>ATM</i>, <i>RB1</i>, <i>BIRC3</i>, <i>MYC</i>, <i>IKZF3</i>, <i>ETV6</i>, <i>ZNF384</i>, <i>PTPRJ</i>, <i>CCL20</i>, <i>PAX3</i>, <i>MTCH2</i>, <i>TCF3</i>, <i>IKZF2</i>, <i>BTG1</i>, <i>BTG2</i>, <i>RAG1</i>, <i>RAG2</i>, <i>ELK3</i>, <i>SH2B3</i>, <i>EP300</i>, <i>MAP2K2</i>, <i>EBI3</i>, <i>MEF2D</i>, <i>MEF2C</i>, <i>CEBPA</i>, and <i>TBLXR1</i> genes, choosing t(4;11) and t(7;14) as reference events. Of the 36 patients, only 5 (13.8%) had a normal molecular karyotype, and 31 (86.2%) were found to have various molecular karyotype abnormalities—104 deletions, 90 duplications or amplifications, 29 cases of cnLOH and 7 biallelic/homozygous deletions. We found that 11q22-23 duplication involving the <i>BIRC3</i>, <i>ATM</i> and <i>MLL</i> genes was the most adverse prognostic event in the study cohort.https://www.mdpi.com/1422-0067/24/24/17602acute B-lymphoblastic leukemia (B-ALL)copy number alterations (CNAs)copy neutral loss of heterozygosity (cnLOH)molecular karyotypegenes |
| spellingShingle | Natalya Risinskaya Maria Gladysheva Abdulpatakh Abdulpatakhov Yulia Chabaeva Valeriya Surimova Olga Aleshina Anna Yushkova Olga Dubova Nikolay Kapranov Irina Galtseva Sergey Kulikov Tatiana Obukhova Andrey Sudarikov Elena Parovichnikova DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved International Journal of Molecular Sciences acute B-lymphoblastic leukemia (B-ALL) copy number alterations (CNAs) copy neutral loss of heterozygosity (cnLOH) molecular karyotype genes |
| title | DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved |
| title_full | DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved |
| title_fullStr | DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved |
| title_full_unstemmed | DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved |
| title_short | DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved |
| title_sort | dna copy number alterations and copy neutral loss of heterozygosity in adult ph negative acute b lymphoblastic leukemia focus on the genes involved |
| topic | acute B-lymphoblastic leukemia (B-ALL) copy number alterations (CNAs) copy neutral loss of heterozygosity (cnLOH) molecular karyotype genes |
| url | https://www.mdpi.com/1422-0067/24/24/17602 |
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