Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica

Background: Acute promyelocytic leukemia (APL) is characterized cytogenetically by t(15;17) (q22;q21) and its molecular consequence, fusion of PML and RARalpha genes. The detection of this genetic marker confirms the diagnosis and allows monitoring of the leukemic clone during treatment, which has p...

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Autores principales:	Legües S,María Eugenia, Franco C,Giannina, Bertin C,Pablo
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2002
Materias:	Cytogenetics In situ hybridization, fluorescence Leukemia, promyelocytic, acute
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000700004
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spelling	oai:scielo:S0034-988720020007000042014-08-20Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocíticaLegües S,María EugeniaFranco C,GianninaBertin C,Pablo Cytogenetics In situ hybridization, fluorescence Leukemia, promyelocytic, acute Background: Acute promyelocytic leukemia (APL) is characterized cytogenetically by t(15;17) (q22;q21) and its molecular consequence, fusion of PML and RARalpha genes. The detection of this genetic marker confirms the diagnosis and allows monitoring of the leukemic clone during treatment, which has prognostic value. Cytogenetics fails in some cases due to the absence of metaphases in cultures or their bad morphology. Southern blot and PCR methods require trained personnel and adequate equipment. FISH method allows the identification of chromosomic rearrangements in 24 to 48 h and is simple to set up in a cytogenetics laboratory. Aim: To evaluate the FISH method to detect PML/RARalpha fusion, compared to cytogenetic analysis. Patients and methods: Fifteen bone marrow specimens from APL patients with previous cytogenetic analysis were studied, using a commercial probe to detect PML/RARalpha fusion. Results: We obtained a normal cut-off value of 9.1%. Specificity and sensibility were 100%. Six positive cytogenetic cases at diagnosis were FISH positive. Six negative cytogenetic cases, one APL at diagnosis and five normal controls were FISH negative. One case in remission, that was negative by cytogenetics, was positive near the cut-off value by FISH. Two other cases in remission, not conclusive by cytogenetics, were negative by FISH. Conclusions: FISH is a reliable, rapid and relatively low cost method that can be used as an adjunct to conventional cytogenetics (Rev Méd Chile 2002; 130: 737-44)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.130 n.7 20022002-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000700004es10.4067/S0034-98872002000700004
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cytogenetics In situ hybridization, fluorescence Leukemia, promyelocytic, acute
spellingShingle	Cytogenetics In situ hybridization, fluorescence Leukemia, promyelocytic, acute Legües S,María Eugenia Franco C,Giannina Bertin C,Pablo Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica
description	Background: Acute promyelocytic leukemia (APL) is characterized cytogenetically by t(15;17) (q22;q21) and its molecular consequence, fusion of PML and RARalpha genes. The detection of this genetic marker confirms the diagnosis and allows monitoring of the leukemic clone during treatment, which has prognostic value. Cytogenetics fails in some cases due to the absence of metaphases in cultures or their bad morphology. Southern blot and PCR methods require trained personnel and adequate equipment. FISH method allows the identification of chromosomic rearrangements in 24 to 48 h and is simple to set up in a cytogenetics laboratory. Aim: To evaluate the FISH method to detect PML/RARalpha fusion, compared to cytogenetic analysis. Patients and methods: Fifteen bone marrow specimens from APL patients with previous cytogenetic analysis were studied, using a commercial probe to detect PML/RARalpha fusion. Results: We obtained a normal cut-off value of 9.1%. Specificity and sensibility were 100%. Six positive cytogenetic cases at diagnosis were FISH positive. Six negative cytogenetic cases, one APL at diagnosis and five normal controls were FISH negative. One case in remission, that was negative by cytogenetics, was positive near the cut-off value by FISH. Two other cases in remission, not conclusive by cytogenetics, were negative by FISH. Conclusions: FISH is a reliable, rapid and relatively low cost method that can be used as an adjunct to conventional cytogenetics (Rev Méd Chile 2002; 130: 737-44)
author	Legües S,María Eugenia Franco C,Giannina Bertin C,Pablo
author_facet	Legües S,María Eugenia Franco C,Giannina Bertin C,Pablo
author_sort	Legües S,María Eugenia
title	Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica
title_short	Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica
title_full	Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica
title_fullStr	Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica
title_full_unstemmed	Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica
title_sort	estudio piloto de la fusión pml/raralfa por el método de hibridación in situ con fluorescencia (fish) en leucemia aguda promielocítica
publisher	Sociedad Médica de Santiago
publishDate	2002
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000700004
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Estudio piloto de la fusión PML/RARalfa por el método de hibridación in situ con fluorescencia (FISH) en leucemia aguda promielocítica

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