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Revista médica de Chile

versión impresa ISSN 0034-9887


LEGUES S, María Eugenia; FRANCO C, Giannina  y  BERTIN C, Pablo. Pilot study of PML/RARa fusion by fluorescence in situ hybridization (FISH) method in acute promyelocytic leukemia. Rev. méd. Chile [online]. 2002, vol.130, n.7, pp.737-744. ISSN 0034-9887.

Background: Acute promyelocytic leukemia (APL) is characterized cytogenetically by t(15;17) (q22;q21) and its molecular consequence, fusion of PML and RARa 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/RARa 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/RARa 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)

Palabras clave : Cytogenetics; In situ hybridization, fluorescence; Leukemia, promyelocytic, acute.

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