Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome
Acute lymphoblastic leukemia (ALL), CD10+ B-cell precursor, represents the most frequent type of childhood ALL from 3 to 6 years of age. The t(12;21)(p13;q22) occurs in 25% of cases of B-cell precursor ALL, it is rare in children less than 24 months and have been related to good prognosis. Some rela...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/186532 |
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| author | Marina Araújo Fonzar Hernandes Terezinha de Jesus Marques-Salles Hasmik Mkrtchyan Eliane Maria Soares-Ventura Edinalva Pereira Leite Maria Tereza Cartaxo Muniz Maria Teresa Marquim Nogueira Cornélio Thomas Liehr Neide Santos Maria Luiza Macedo Silva |
| author_facet | Marina Araújo Fonzar Hernandes Terezinha de Jesus Marques-Salles Hasmik Mkrtchyan Eliane Maria Soares-Ventura Edinalva Pereira Leite Maria Tereza Cartaxo Muniz Maria Teresa Marquim Nogueira Cornélio Thomas Liehr Neide Santos Maria Luiza Macedo Silva |
| author_sort | Marina Araújo Fonzar Hernandes |
| collection | DOAJ |
| description | Acute lymphoblastic leukemia (ALL), CD10+ B-cell precursor, represents the most frequent type of childhood ALL from 3 to 6 years of age. The t(12;21)(p13;q22) occurs in 25% of cases of B-cell precursor ALL, it is rare in children less than 24 months and have been related to good prognosis. Some relapse cases and unfavorable prognosis in ALL CD10+ are associated with t(12;21) bearing additional aberrations as extra copies of chromosome 21 and ETV6 gene loss. This report describes the case of a 15 month-year old girl, who displayed a karyotype with addition on chromosome 12p plus trisomy 10 and tetrasomy of chromosome 21. Molecular cytogenetic studies revealed two extra copies of the der(21) t(12;21), trisomy 10 and deletion of the second ETV6 gene due to the dic(12;18). These findings show the great importance of molecular cytogenetic studies to clarify complex karyotypes, to define prognostic, to carry out risk group stratification and to support correctly disease treatment in childhood acute lymphoblastic leukemia. |
| format | Article |
| id | doaj-art-2dba72e480234d938e4ba2ea29a36f39 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-2dba72e480234d938e4ba2ea29a36f392025-02-03T06:00:22ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/186532186532Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor OutcomeMarina Araújo Fonzar Hernandes0Terezinha de Jesus Marques-Salles1Hasmik Mkrtchyan2Eliane Maria Soares-Ventura3Edinalva Pereira Leite4Maria Tereza Cartaxo Muniz5Maria Teresa Marquim Nogueira Cornélio6Thomas Liehr7Neide Santos8Maria Luiza Macedo Silva9Pediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco (CEONHPE/HUOC/UPE), 50050-210 Recife, PE, BrazilPediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco (CEONHPE/HUOC/UPE), 50050-210 Recife, PE, BrazilInstitute of Human Genetics and Anthropology, 07740 Jena, GermanyPediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco (CEONHPE/HUOC/UPE), 50050-210 Recife, PE, BrazilPediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco (CEONHPE/HUOC/UPE), 50050-210 Recife, PE, BrazilPediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco (CEONHPE/HUOC/UPE), 50050-210 Recife, PE, BrazilPediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco (CEONHPE/HUOC/UPE), 50050-210 Recife, PE, BrazilInstitute of Human Genetics and Anthropology, 07740 Jena, GermanyDepartament of Genetics, Federal University of Pernambuco, 50670-901 Recife, PE, BrazilDepartment of Cytogenetics of the National Center for Bone Marrow Transplant (CEMO-INCA), National Cancer Institute, 20230-130 Rio de Janeiro, RJ, BrazilAcute lymphoblastic leukemia (ALL), CD10+ B-cell precursor, represents the most frequent type of childhood ALL from 3 to 6 years of age. The t(12;21)(p13;q22) occurs in 25% of cases of B-cell precursor ALL, it is rare in children less than 24 months and have been related to good prognosis. Some relapse cases and unfavorable prognosis in ALL CD10+ are associated with t(12;21) bearing additional aberrations as extra copies of chromosome 21 and ETV6 gene loss. This report describes the case of a 15 month-year old girl, who displayed a karyotype with addition on chromosome 12p plus trisomy 10 and tetrasomy of chromosome 21. Molecular cytogenetic studies revealed two extra copies of the der(21) t(12;21), trisomy 10 and deletion of the second ETV6 gene due to the dic(12;18). These findings show the great importance of molecular cytogenetic studies to clarify complex karyotypes, to define prognostic, to carry out risk group stratification and to support correctly disease treatment in childhood acute lymphoblastic leukemia.http://dx.doi.org/10.1155/2012/186532 |
| spellingShingle | Marina Araújo Fonzar Hernandes Terezinha de Jesus Marques-Salles Hasmik Mkrtchyan Eliane Maria Soares-Ventura Edinalva Pereira Leite Maria Tereza Cartaxo Muniz Maria Teresa Marquim Nogueira Cornélio Thomas Liehr Neide Santos Maria Luiza Macedo Silva Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome Case Reports in Genetics |
| title | Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome |
| title_full | Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome |
| title_fullStr | Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome |
| title_full_unstemmed | Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome |
| title_short | Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome |
| title_sort | extra copies of der 21 t 12 21 plus deletion of etv6 gene due to dic 12 18 in b cell precursor all with poor outcome |
| url | http://dx.doi.org/10.1155/2012/186532 |
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