ABSTRACT
Background: Acute promyelocytic leukemia (APL) is characterized cytogenetically by t(15;17) (q22;q21) and its molecular consequence, fusion of PML and RAR_ 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/RAR_ 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/RAR_ fusion. Results: We obtained a normal cut-off value of 9.1 percent. Specificity and sensibility were 100 percent. 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
Subject(s)
Humans , Cytogenetic Analysis , Leukemia, Promyelocytic, Acute/genetics , Case-Control Studies , Polymerase Chain Reaction , Fluorescence , Metaphase , In Situ Hybridization/methodsABSTRACT
Se estudiaron prospectivamente 29 recién nacidos poliglobúlicos, que no presentaban enfermedades relevantes asociadas, asignándoles al azar a tratamiento de eritroferesis con solución NaCl 0,9 por ciento, plasma o albúmina al 5 por ciento. Se les midió hematocrito, viscocidad sanguínea y sodio plasmático antes y después de la eritroferesis. Las tres soluciones fueron igualmente efectivas en disminuir significativamente el hematocrito y la viscocidad sanguínea. En los tres grupos la disminución del hematocrito se mantuvo 12 a 24 horas después de la eritroferesis y el sodio plasmático se mantuvo estable, sin variaciones entre las cifras previas y posteriores al procedimiento. La solución de NaCl 0,9 por ciento tiene las ventajas de no ofrecer riesgos de transmitir infecciones, menor costo y no motivar objeciones religiosas, por lo que parece ser la mejor opción para la eritroféresis en recién nacidos con poliglobulia
Subject(s)
Humans , Male , Female , Infant, Newborn , Plasmapheresis/methods , Polycythemia/therapy , Hematocrit , Sodium/blood , Solutions/therapeutic use , Blood Viscosity/physiologyABSTRACT
Acute lymphoblastic leukemia (ALL) is the most frequent childhood cancer. The leukemic cells of ALL patients show several well defined numeric and structural chromosomal abnormalities which are universally known for its prognostic implications. We studied a group of 44 children with ALL, to investigate the incidence of chromosome aberrations in ALL, its lymphocyte lineage and some clinical feature associations, ans the finding of non previously described aberrations. A high proportion of patients (79.5 per cent) showed chromosomal abnormalities. Most of them had a pseudodiploid karyotype (46 chromosomes), characterized mainly by a translocation. In relation to chromosome number, 27 percent of them were hyperdiploid with more than 50; 9 percent hyperdiploid between 47 - 50 and 7 percent hypodiploid (less than 46). Among structural aberrations found, were the following recurrent translocations: t(1;19), t(4;11), t(9;22) in 6.8 percent, 9.1 percent and 2.3 percent of cases respectively, all related to an early B immunophenotype. Other translocations found, compromised regions 7q22,9p21 -24. Two new translocations in ALL were found: 8(1;5)(q23;q33), apparently balanced and t(13;21)(q14;q22), unbalanced. Other recurrent structural changes found were: deletion (6q), (7q), (7q), (11q), (12q), inversion (3q), isochromosome (7q), maker chromosomes and double minutes. The distribution of chromosome abnormalities in this group of patients was in agreement with previous reports from other investigators