Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia

ABSTRACT: Deletions of the long arm of chromosome 9, del(9)(q22), are rare aberrations specifically found in acute myeloid leukemia (AML). Yamamoto et al, 1999, reported the first case of acute promyelocytic leukemia (APL) with a terminal 9q deletion as a sole abnormality. Here we describe the secon...

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Autores:
Vásquez Palacio, Gonzalo de Jesús
Botero Galeano, Olga
Sierra Sánchez, Margarita
Tubo, Taknida
Quintero Rivera, Fabiola
Tipo de recurso:
Article of investigation
Fecha de publicación:
2009
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/43319
Acceso en línea:
https://hdl.handle.net/10495/43319
Palabra clave:
Leucemia Promielocítica Aguda
Leukemia, Promyelocytic, Acute
Cromosomas Humanos Par 9
Chromosomes, Human, Pair 9
https://id.nlm.nih.gov/mesh/D015473
https://id.nlm.nih.gov/mesh/D002899
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-nd/2.5/co/
id UDEA2_7bb491daacb74f9e0acbc6388bb42444
oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/43319
network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
dc.title.translated.spa.fl_str_mv Análisis citogenético y FISH de la deleción terminal del brazo largo del cromosoma 9 en un paciente con leucemia promielocítica aguda
title Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
spellingShingle Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
Leucemia Promielocítica Aguda
Leukemia, Promyelocytic, Acute
Cromosomas Humanos Par 9
Chromosomes, Human, Pair 9
https://id.nlm.nih.gov/mesh/D015473
https://id.nlm.nih.gov/mesh/D002899
title_short Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
title_full Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
title_fullStr Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
title_full_unstemmed Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
title_sort Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemia
dc.creator.fl_str_mv Vásquez Palacio, Gonzalo de Jesús
Botero Galeano, Olga
Sierra Sánchez, Margarita
Tubo, Taknida
Quintero Rivera, Fabiola
dc.contributor.author.none.fl_str_mv Vásquez Palacio, Gonzalo de Jesús
Botero Galeano, Olga
Sierra Sánchez, Margarita
Tubo, Taknida
Quintero Rivera, Fabiola
dc.contributor.researchgroup.spa.fl_str_mv Genética Médica
dc.subject.decs.none.fl_str_mv Leucemia Promielocítica Aguda
Leukemia, Promyelocytic, Acute
Cromosomas Humanos Par 9
Chromosomes, Human, Pair 9
topic Leucemia Promielocítica Aguda
Leukemia, Promyelocytic, Acute
Cromosomas Humanos Par 9
Chromosomes, Human, Pair 9
https://id.nlm.nih.gov/mesh/D015473
https://id.nlm.nih.gov/mesh/D002899
dc.subject.meshuri.none.fl_str_mv https://id.nlm.nih.gov/mesh/D015473
https://id.nlm.nih.gov/mesh/D002899
description ABSTRACT: Deletions of the long arm of chromosome 9, del(9)(q22), are rare aberrations specifically found in acute myeloid leukemia (AML). Yamamoto et al, 1999, reported the first case of acute promyelocytic leukemia (APL) with a terminal 9q deletion as a sole abnormality. Here we describe the second case with the same aberration, the patient, an eleven-years-old girl with APL. Chromosomal analysis by the Giemsa R-banding technique and FISH using BCR/ABL and PML/RARA probe on short-term cell cultures from bone marrow was performed. A deletion of a 9 chromosome, del(9)(q22) was detected. Deletions of 9q have been described in about 3% to 4% of the AML patients, especially in M1 and M2 myeloid leukemia. Sole 9q terminal deletions, are less common than interstitial ones and involve q21~q22 band predominantly. A recent study suggests that 9q deletion, even in the absence of t(15;17), shows a relatively good prognosis. However, our patient died during the treatment.
publishDate 2009
dc.date.issued.none.fl_str_mv 2009
dc.date.accessioned.none.fl_str_mv 2024-11-09T23:59:58Z
dc.date.available.none.fl_str_mv 2024-11-09T23:59:58Z
dc.type.spa.fl_str_mv Reporte de caso
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dc.identifier.issn.none.fl_str_mv 1665-5796
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/10495/43319
dc.identifier.eissn.none.fl_str_mv 2530-0709
identifier_str_mv 1665-5796
2530-0709
url https://hdl.handle.net/10495/43319
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Med. Univer.
dc.relation.citationendpage.spa.fl_str_mv 197
dc.relation.citationissue.spa.fl_str_mv 44
dc.relation.citationstartpage.spa.fl_str_mv 193
dc.relation.citationvolume.spa.fl_str_mv 11
dc.relation.ispartofjournal.spa.fl_str_mv Medicina Universitaria
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/2.5/co/
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dc.rights.accessrights.spa.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.extent.spa.fl_str_mv 5 páginas
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dc.publisher.spa.fl_str_mv Permanyer Publications Ltd.
dc.publisher.place.spa.fl_str_mv Ciudad de México, México
institution Universidad de Antioquia
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spelling Vásquez Palacio, Gonzalo de JesúsBotero Galeano, OlgaSierra Sánchez, MargaritaTubo, TaknidaQuintero Rivera, FabiolaGenética Médica2024-11-09T23:59:58Z2024-11-09T23:59:58Z20091665-5796https://hdl.handle.net/10495/433192530-0709ABSTRACT: Deletions of the long arm of chromosome 9, del(9)(q22), are rare aberrations specifically found in acute myeloid leukemia (AML). Yamamoto et al, 1999, reported the first case of acute promyelocytic leukemia (APL) with a terminal 9q deletion as a sole abnormality. Here we describe the second case with the same aberration, the patient, an eleven-years-old girl with APL. Chromosomal analysis by the Giemsa R-banding technique and FISH using BCR/ABL and PML/RARA probe on short-term cell cultures from bone marrow was performed. A deletion of a 9 chromosome, del(9)(q22) was detected. Deletions of 9q have been described in about 3% to 4% of the AML patients, especially in M1 and M2 myeloid leukemia. Sole 9q terminal deletions, are less common than interstitial ones and involve q21~q22 band predominantly. A recent study suggests that 9q deletion, even in the absence of t(15;17), shows a relatively good prognosis. However, our patient died during the treatment.RESUMEN: Las deleciones del brazo largo del cromosoma 9, del(9)(q22), son raras, y se observan específicamente en la Leucemia Mieloide Aguda (LMA). Yamamoto et al., 1999, publico el primer caso de leucemia promielocítica aguda (LPA) con un deleción terminal 9q, como la única aberración cromosómica presente. Aquí nosotros describimos el segundo caso con la misma aberración. El paciente, una mujer de 11 años de edad con LPA. El análisis cromosómico fue realizado en cultivos celulares de medula ósea usando la técnica de bandas R con Giemsa y FISH con sondas para detectar las fusiones BCR/ABL y PML/RARA. Fue identificada la deleción de una copia del cromosoma 9, del(9)(q22). Han sido descritas deleciones del brazo 9q en un ~ 3 a 4%, de pacientes con LMA, especialmente en los subtipos M1 y M2. La deleción terminal 9q, es menos frecuente que las deleciones intersticiales, y usualmente involucra las bandas q21~q22. Un estudio reciente sugiere que la deleción terminal 9q, aun en la ausencia de la traslocación entre los cromosomas 15 y 17, t(15;17), confiere relativamente un buen pronóstico. Sin embargo, nuestro paciente falleció durante el tratamiento.COL00067325 páginasapplication/pdfengPermanyer Publications Ltd.Ciudad de México, Méxicohttp://creativecommons.org/licenses/by-nc-nd/2.5/co/https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Cytogenetic analysis and FISH of terminal deletion of long arm of chromosome 9 in a patient with acute promyelocytic leukemiaAnálisis citogenético y FISH de la deleción terminal del brazo largo del cromosoma 9 en un paciente con leucemia promielocítica agudaReporte de casohttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTCASOhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionLeucemia Promielocítica AgudaLeukemia, Promyelocytic, AcuteCromosomas Humanos Par 9Chromosomes, Human, Pair 9https://id.nlm.nih.gov/mesh/D015473https://id.nlm.nih.gov/mesh/D002899Med. 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