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Rev. cuba. hematol. inmunol. hemoter ; 32(2): 215-222, abr.-jun. 2016. ilus
Article de Espagnol | LILACS, CUMED | ID: biblio-908291

RÉSUMÉ

Introducción: la leucemia mieloide crónica (LMC) se caracteriza por la presencia de la translocación t(9,22) que resulta en la formación del gen de fusión BCR/ABL1. En ocasiones esta alteración genética puede asociarse con deleciones en secuencias del cromosoma 9 derivativo y otras variantes que no se observan con la citogenética convencional, pero pueden ser detectadas mediante la técnica de hibridación in situ por fluorescencia (FISH). Objetivo: describir los patrones de hibridación en pacientes positivos a la t(9;22) a partir de la introducción de la técnica de FISH para el estudio de las leucemias en Cuba. Métodos: se estudiaron muestras de sangre medular de 36 pacientes con LMC y ocho con leucemia linfoblástica aguda (LLA), en el Instituto de Hematología e Inmunología. Se empleó la sonda LSI BCR/ABL1 Dual Color Dual Fusion. Resultados: entre los pacientes con LMC, dos muestras resultaron no útiles para el diagnóstico y 18 fueron positivas para el BCR-ABL1, una de ellas mostró un patrón de hibridación atípico. Todas las muestras de pacientes con LLA resultaron negativas. En un paciente con impresión diagnóstica de LMC BCR-ABL1 negativo, se observó un patrón de señales que sugiere trisomía del cromosoma 9. Conclusiones: la incorporación de la técnica de FISH para el estudio del transcripto BCR/ABL1 en pacientes con LMC y LLA permitió detectar su presencia y la existencia de patrones de señales atípicos, los que pudieran no ser detectables mediante la citogenética convencional y tener significación pronóstica(AU)


Introduction: Chronic myeloid leukemia (CML) is characterized by the t(9;22) translocation resulting in the formation of BCR/ABL1 fusion gen. Sometimes this genetic alteration can be associated to deletions in sequences of derivative chromosome 9 and other variants detected by fluorescence in situ hybridization (FISH) technique. Objective: To describe hybridization patterns in patients positive to t(9;22) after the introduction of FISH at the leukemia study in Cuba. Methods: The bone marrow samples of 36 patients with diagnosis of CML and eight patients with acute lymphoblastic leukemia (ALL) were studied at the Cytogenetics Laboratory of the Institute of Hematology and Immunology. The BCR/ABL Dual Color Dual Fusion probe was used. Results: The sample of two CML patients were non-useful for diagnosis and 18 were t(9;22) positive, one with an atypical pattern of signals. All the ALL patients were negative. In one negative CML patient was observed a pattern of signals suggestive of trisomy 9. Conclusions: Incorporation of FISH for the BCR/ABL1 transcript study in CML and ALL patients allowed us to detect its presence and the existence of different patterns of signals which could be no detectable by conventional cytogenetic and could have prognostic significance(AU)


Sujet(s)
Humains , Leucémie myéloïde chronique BCR-ABL positive/diagnostic , Hybridation fluorescente in situ/méthodes , Études transversales , Études prospectives , Cuba
2.
Indian J Pathol Microbiol ; 2012 Jul-Sept 55(3): 347-351
Article de Anglais | IMSEAR | ID: sea-142265

RÉSUMÉ

Background : Chronic myelogenous leukemia (CML) is characterised by the t(9;22)(q34;q11.2) which results in the formation of the BCR/ABL1 fusion gene. Occasionally, the t(9;22) may be associated with submicroscopic deletions of chromosomes 9 and/or 22 which appear to be associated with a worse prognosis. Three or four-way variant t(9;22) may also occur. All these changes as well as gain of the Philadelphia chromosome which represents disease progression can be detected by fluorescence in situ hybridization (FISH) analysis. FISH analysis at presentation is used to determine the number of cells with BCR/ABL1 fusion and establish whether the patterns are typical or atypical. Response to therapy can then be monitored by serial testing. Patients and Methods : The study group consisted of all patients diagnosed or suspected to have CML who had interphase FISH analysis at presentation on peripheral blood/bone marrow using a commercially available BCR/ABL1 dual colour, dual fusion probe. The study was performed at a tertiary hospital in India between 2004 and 2010. Results: There were 1076 diagnostic samples which were positive for BCR/ABL1 fusion. Typical dual fusion signals (two fusions, one red and one green, 2F1R1G) were seen in 801 cases (74 %). Atypical signal patterns were seen in 275 cases (26%). These were: 1F1R2G (4%), 1F2R1G (2.5%) and 1F1R1G (11%) representing deletions of the derivative 9 involving chromosome 9 sequences, chromosome 22 sequences, or both respectively; 3F1R1G (6.5%) usually representing gain of an additional Philadelphia chromosome and 1F2R2G (1%) representing a three- or four-way variant translocation. More than one signal pattern was seen in 1%. Conclusions: Our findings were similar to the literature with respect to the distribution of signal patterns except that we had a lower number of patients with variant translocations. While each signal pattern is typically associated with a particular abnormality, there can be more than one explanation for each pattern. Hence, metaphase FISH analysis is the "gold standard" for the interpretation of signal patterns.


Sujet(s)
Adolescent , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Enfant , Enfant d'âge préscolaire , Femelle , Protéines de fusion bcr-abl/génétique , Humains , Hybridation fluorescente in situ/méthodes , Inde , Leucémie myéloïde chronique BCR-ABL positive/diagnostic , Mâle , Adulte d'âge moyen , Sondes oligonucléotidiques/composition chimique , Sondes oligonucléotidiques/génétique , Centres de soins tertiaires , Jeune adulte
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