IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSIS
Acute Lymphoblastic Leukemia (ALL) is the most common neoplasm in pediatric age. In recent years, between 15 and 20% of patients failed in their treatments. Knowledge on cytogenetics and molecular biology has an important impact on the determination of the prognosis and the appropriate treatment sch...
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| Format: | Article |
| Language: | English |
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Sociedad Argentina de Genética
2020-07-01
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| Series: | BAG. Journal of Basic and Applied Genetics |
| Subjects: | |
| Online Access: | https://sag.org.ar/jbag/wp-content/uploads/2020/07/v31n1a04.pdf |
| _version_ | 1818609847119118336 |
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| author | Y.C. Castro R. Utrera |
| author_facet | Y.C. Castro R. Utrera |
| author_sort | Y.C. Castro |
| collection | DOAJ |
| description | Acute Lymphoblastic Leukemia (ALL) is the most common neoplasm in pediatric age. In recent years, between 15 and 20% of patients failed in their treatments. Knowledge on cytogenetics and molecular biology has an important impact on the determination of the prognosis and the appropriate treatment scheme. In Venezuela there is limited knowledge regarding the molecular genetics of this onco-hematological alteration. The aim of this work was to evaluate the most frequent genetic alterations in Venezuelan patients with a clinical diagnosis of acute lymphoblastic leukemia. A cross-sectional, descriptive and prospective study was carried out from 2006 to 2014, in which the translocations ETV6/RUNX1, MLL/AF4, TCF3/PBX1, BCR/ABL1, as well as mutations in the PAX5 and FLT3 genes were evaluated through the use of different types of PCR. One hundred and thirty patients with a clinical diagnosis of acute lymphocytic leukemia were included in the study. Molecular alterations were identified in 56 patients (43.1%), in which we observed the presence of one or several alterations in conjunction in the same patient. The alterations identified were t(12; 21) (11.5%), t(4; 11) (8.5%), t(1; 19) (10%), t(9; 22) (20.8%), ITD-FLT3 (14.8%), P80S mutation (4.2%) and S77del (4.2%) in the PAX5 gene. The prevalence of BCR/ABL is one of the highest described so far in cases of ALL where most of the population is made up of pediatric patients. These results represent the first molecular study of ALL in Venezuela, laying the foundations for the diagnosis and monitoring of the disease in its population. |
| first_indexed | 2024-12-16T15:05:02Z |
| format | Article |
| id | doaj.art-d073ff6e54ba4afdb88685891b4a1e23 |
| institution | Directory Open Access Journal |
| issn | 1852-6233 |
| language | English |
| last_indexed | 2024-12-16T15:05:02Z |
| publishDate | 2020-07-01 |
| publisher | Sociedad Argentina de Genética |
| record_format | Article |
| series | BAG. Journal of Basic and Applied Genetics |
| spelling | doaj.art-d073ff6e54ba4afdb88685891b4a1e232022-12-21T22:27:10ZengSociedad Argentina de GenéticaBAG. Journal of Basic and Applied Genetics1852-62332020-07-01311334310.35407/bag.2020.31.01.04IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSISY.C. Castro 0R. Utrera 1Laboratorio Genética Molecular Humana, Universidad Simón Bolívar, Venezuela.Laboratorio Genética Molecular Humana, Universidad Simón Bolívar, Venezuela.Acute Lymphoblastic Leukemia (ALL) is the most common neoplasm in pediatric age. In recent years, between 15 and 20% of patients failed in their treatments. Knowledge on cytogenetics and molecular biology has an important impact on the determination of the prognosis and the appropriate treatment scheme. In Venezuela there is limited knowledge regarding the molecular genetics of this onco-hematological alteration. The aim of this work was to evaluate the most frequent genetic alterations in Venezuelan patients with a clinical diagnosis of acute lymphoblastic leukemia. A cross-sectional, descriptive and prospective study was carried out from 2006 to 2014, in which the translocations ETV6/RUNX1, MLL/AF4, TCF3/PBX1, BCR/ABL1, as well as mutations in the PAX5 and FLT3 genes were evaluated through the use of different types of PCR. One hundred and thirty patients with a clinical diagnosis of acute lymphocytic leukemia were included in the study. Molecular alterations were identified in 56 patients (43.1%), in which we observed the presence of one or several alterations in conjunction in the same patient. The alterations identified were t(12; 21) (11.5%), t(4; 11) (8.5%), t(1; 19) (10%), t(9; 22) (20.8%), ITD-FLT3 (14.8%), P80S mutation (4.2%) and S77del (4.2%) in the PAX5 gene. The prevalence of BCR/ABL is one of the highest described so far in cases of ALL where most of the population is made up of pediatric patients. These results represent the first molecular study of ALL in Venezuela, laying the foundations for the diagnosis and monitoring of the disease in its population.https://sag.org.ar/jbag/wp-content/uploads/2020/07/v31n1a04.pdfacute lymphoblastic leukemiatranslocationsetv6/runx1mll/af4tcf3/pbx1bcr/abl1pax5flt3 |
| spellingShingle | Y.C. Castro R. Utrera IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSIS BAG. Journal of Basic and Applied Genetics acute lymphoblastic leukemia translocations etv6/runx1 mll/af4 tcf3/pbx1 bcr/abl1 pax5 flt3 |
| title | IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSIS |
| title_full | IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSIS |
| title_fullStr | IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSIS |
| title_full_unstemmed | IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSIS |
| title_short | IDENTIFICATION OF MOLECULAR ALTERATIONS IN VENEZUELAN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA DIAGNOSIS |
| title_sort | identification of molecular alterations in venezuelan patients with acute lymphoblastic leukemia diagnosis |
| topic | acute lymphoblastic leukemia translocations etv6/runx1 mll/af4 tcf3/pbx1 bcr/abl1 pax5 flt3 |
| url | https://sag.org.ar/jbag/wp-content/uploads/2020/07/v31n1a04.pdf |
| work_keys_str_mv | AT yccastro identificationofmolecularalterationsinvenezuelanpatientswithacutelymphoblasticleukemiadiagnosis AT rutrera identificationofmolecularalterationsinvenezuelanpatientswithacutelymphoblasticleukemiadiagnosis |