2012, Number 4
PDF size: 231.68 Kb.
ABSTRACTIntroduction. Acute leukemia is a malignancy of the hematopoietic system, which presents the highest diagnosis in patients of three to five years of age in 80% of cases. Material and methods. We analyzed 50 patients with acute lymphoblastic leukemia (ALL) subtypes L1 and L2 of Hospital Juárez de México. The cytogenetic study (EC) was performed by GTG-banding and reported according to criteria of the International System of Cytogenetic Nomenclature (ISCN, 2010). In cases where the result of EC was not obtained was applied the technique of fluorescence in situ hybridization (FISH) were used probes unique sequence BCR/ABL and TEL/AML1 for identifying t(9;22) or Ph+ chromosome or t(12;21), which was applied. Results. The results of the EC in 74% of cases where 20/37 were normal karyotype and 17/37 abnormal karyotype. seven cases had abnormalities of numerical and structural type 10 cases, with the most frequent alterations tetraploidy and t(9; 22). The analysis of BCR / ABL showed 8/23 resulted with alterations in genes BCR and / or ABL, of which 7/23 showed the BCR/ABL, 5/7 showed besides the BCR / ABL fusion deletions in the loci BCR and / or ABL. TEL/AML1 analysis (ES) was 4/19 cases had abnormalities TEL and/or AML1, of which one quarter was positive for TEL/AML1 fusion and three quarters showed gains of loci TEL and / or AML1, but without melting. FISH is a useful technique for such conditions as it brought up the result in 16% of cases but also showed limitations as patients who were negative for both the t(9;22) and for t(12;21), could be associated with other abnormalities unparsed such probes. Conclusions. With conventional cytogenetic alterations could be identified prognostic numerical and structural ALL patients also with FISH was able to identify gains and losses of the loci BCR and/or ABL, and TEL and AML1.
Ruíz-Argüelles y San-Miguel. Leucemias Agudas. Ed. Panamericana; 1996, p. 120.
Pui C-H, Relling MV, Downing JR. Acute lymphoblastic leukemia. In N Engl J Med 2004; 350: 1535-48.
Harrison CJ. Acute lymphoblastic leukemia. Clin Lab Med 2011; 31: 631-47.
Swerdlow SH. Agency for Research on Cancer I, Health Organization W. WHO classification of tumours of haematopoietic and lymphoid tissues; 2008, p. 439.
Clare N, Hanse K. Cytogenetics in the diagnosis of hematologic malignancies. Hematology/Oncology Clinics of North America 1994; 8: 785-807.
Harrison CJ, Foroni L. Cytogenetics and molecular genetics of acute lymphoblastic leukemia. Rev Clin Exp Hematol 2002: 91-113.
Hutchinson RJ, Gaynon PS, Sather H, et al. Intensification of therapy for children with lower-risk acute lymphoblastic leukemia: long-term follow-up of patients treated on Children’s Cancer Group Trial 1881. J Clin Oncol 2003; 21(9): 1790-7.
Schiffer C, Lee E, Tomiyasi T, Wiernik P, Testa J. Pronostic imapct of cytogenetics abormalities in pactients with de novo acute nonlyphocytic leukemia. Blood 1989; 56: 73-263.
Carroll WL, Bhojwani D, Min DJ, Raetz E, Relling M, Davies S, et al. Pediatric acute lymphoblastic leukemia. Hematology (Am Soc Hematol Educ Program) 2003; 102-31.
Rui-Lian Zhou, Yao-Xi Mo, Mei Lan, Jin-Ying Lin. Detection of BCR/ABL fusion gene by fluorescence in situ hybridization and its clinical application. J Exp Hem 2011; 19(5): 1283-8.
Kempski H, Chalker J, Chessells J, Sturt N, Brickell P, Webb J, Clink JM, Reeves B. An investigation of the t(12;21) rearrangement in children with B-precursor acute lymphoblastic leukaemia using cytogenetic and molecular methods. Br J Haematol 1999; 105(3): 684-9.
Mitelman F, Kargel S, Basel. ISCN: An International System for human Chromosomic Nomenclature; 2010.
Sierra MM. Detección de alteraciones numéricas y de la fusión génica BCR/ABL en pacientes adultos con leucemia aguda linfoblástica. Tesis de Maestría. UNAM; 2005.
Vinod PM, Slovak KJ, Kopecky S, Frederick A. Impact of cytogenetics on the outcome of adult acute lymphoblastic leukemia: results of Southwest Oncology Group 9400 study. Blood 2008; 111(5): 2563-72.
Rowe JM, Buck G, Burnett AK, et al. Induction therapy for adults with acute lymphoblastic leukemia: results of more than 1500 patients from the international ALL trial: MRC UKALL XII/ECOG E2993. Blood 2005; 106: 3760-7.
Sinclair PB, Nacheva EP, Leversha M, Telford N, Chang J, Reid A, Bench A, et al. Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia. Blood 2000; 95: 738-43.
Aoun P, Wiggins M, Pickering D, Foran J, Rasheed H, Pavletic SZ, Sanger W. Interphase florescence in situ hybridization studies for the detection of 9q34 deletions in chronic myelogenous leukemia: a practical approach to clinical diagnosis. Cancer Genet Cytogenet 2004; 154: 138-43.
Costa D, Carrio A, Madrigalb I, Ariasa A, Valera A, Colomera D, Lluý’s D, et al. Studies of complex Ph translocations in cases with chronic myelogenous leukemia and one with acute lymphoblastic leukemia. Cancer Genetics and Cytogenetics 2006; 166: 89-93.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. Comparison and significance of DCDF probe and ES probe in the detection of BCR/ABL fusion gene. Chinese Journal of Medical Genetics 04/2011; 28(2): 220-2. DOI:10.3760/cma.j.issn.1003- 9406.2011.02.022.
Nordgren A. Hidden aberrations diagnosed by interphase fluorescence in situ hybridisation and spectral karyotyping in childhood acute lymphoblastic leukaemia. Leuk Lymphoma 2003; 44: 2039-53.