Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report
Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acut...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2013-01-01
|
| Series: | Revista Brasileira de Hematologia e Hemoterapia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000500369&lng=en&tlng=en |
| _version_ | 1818981448293548032 |
|---|---|
| author | Daniela Ribeiro Ney Garcia Alejandro Mauricio Arancibia Raul C. Ribeiro Marcelo Gerardin Poirot Land Maria Luiza Macedo Silva |
| author_facet | Daniela Ribeiro Ney Garcia Alejandro Mauricio Arancibia Raul C. Ribeiro Marcelo Gerardin Poirot Land Maria Luiza Macedo Silva |
| author_sort | Daniela Ribeiro Ney Garcia |
| collection | DOAJ |
| description | Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acute lymphoblastic leukemia genetic abnormalities is nevertheless rapidly expanding. Therefore, newly described chromosomal aberrations are likely to have an impact on clinical care in the near future. Recently, the rare intrachromosomal amplification of chromosome 21 started to be considered a high-risk chromosomal abnormality. It occurs in approximately 2-5% of pediatric patients with B-cell precursor acute lymphoblastic leukemia. This abnormality is associated with a poor outcome. Hence, an accurate detection of this abnormality is expected to become very important in the choice of appropriate therapy. In this work the clinical and molecular cytogenetic evaluation by fluorescence in situ hybridization of a child with B-cell precursor acute lymphoblastic leukemia presenting the rare intrachromosomal amplification of chromosome 21 is described. |
| first_indexed | 2024-12-20T17:31:29Z |
| format | Article |
| id | doaj.art-72fd49650dac4601a26f6daaea3db422 |
| institution | Directory Open Access Journal |
| issn | 1806-0870 |
| language | English |
| last_indexed | 2024-12-20T17:31:29Z |
| publishDate | 2013-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Revista Brasileira de Hematologia e Hemoterapia |
| spelling | doaj.art-72fd49650dac4601a26f6daaea3db4222022-12-21T19:31:22ZengElsevierRevista Brasileira de Hematologia e Hemoterapia1806-08702013-01-0135536937110.5581/1516-8484.20130111S1516-84842013000500369Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case reportDaniela Ribeiro Ney GarciaAlejandro Mauricio ArancibiaRaul C. RibeiroMarcelo Gerardin Poirot LandMaria Luiza Macedo SilvaChromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acute lymphoblastic leukemia genetic abnormalities is nevertheless rapidly expanding. Therefore, newly described chromosomal aberrations are likely to have an impact on clinical care in the near future. Recently, the rare intrachromosomal amplification of chromosome 21 started to be considered a high-risk chromosomal abnormality. It occurs in approximately 2-5% of pediatric patients with B-cell precursor acute lymphoblastic leukemia. This abnormality is associated with a poor outcome. Hence, an accurate detection of this abnormality is expected to become very important in the choice of appropriate therapy. In this work the clinical and molecular cytogenetic evaluation by fluorescence in situ hybridization of a child with B-cell precursor acute lymphoblastic leukemia presenting the rare intrachromosomal amplification of chromosome 21 is described.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000500369&lng=en&tlng=enLeukemia, lymphoidIn situ hybridization, fluorescenceGene amplificationLeukemia, B-cellChromosomes, human, pair 21/geneticsTranscription factorsCase reports |
| spellingShingle | Daniela Ribeiro Ney Garcia Alejandro Mauricio Arancibia Raul C. Ribeiro Marcelo Gerardin Poirot Land Maria Luiza Macedo Silva Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report Revista Brasileira de Hematologia e Hemoterapia Leukemia, lymphoid In situ hybridization, fluorescence Gene amplification Leukemia, B-cell Chromosomes, human, pair 21/genetics Transcription factors Case reports |
| title | Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
| title_full | Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
| title_fullStr | Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
| title_full_unstemmed | Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
| title_short | Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
| title_sort | intrachromosomal amplification of chromosome 21 iamp21 detected by etv6 runx1 fish screening in childhood acute lymphoblastic leukemia a case report |
| topic | Leukemia, lymphoid In situ hybridization, fluorescence Gene amplification Leukemia, B-cell Chromosomes, human, pair 21/genetics Transcription factors Case reports |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000500369&lng=en&tlng=en |
| work_keys_str_mv | AT danielaribeironeygarcia intrachromosomalamplificationofchromosome21iamp21detectedbyetv6runx1fishscreeninginchildhoodacutelymphoblasticleukemiaacasereport AT alejandromauricioarancibia intrachromosomalamplificationofchromosome21iamp21detectedbyetv6runx1fishscreeninginchildhoodacutelymphoblasticleukemiaacasereport AT raulcribeiro intrachromosomalamplificationofchromosome21iamp21detectedbyetv6runx1fishscreeninginchildhoodacutelymphoblasticleukemiaacasereport AT marcelogerardinpoirotland intrachromosomalamplificationofchromosome21iamp21detectedbyetv6runx1fishscreeninginchildhoodacutelymphoblasticleukemiaacasereport AT marialuizamacedosilva intrachromosomalamplificationofchromosome21iamp21detectedbyetv6runx1fishscreeninginchildhoodacutelymphoblasticleukemiaacasereport |