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2016, Number 1

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Rev Cubana Hematol Inmunol Hemoter 2016; 32 (1)

Fluorescence in situ hybridization: diagnostic tool for hematological malignancies

Lavaut SK, Hernández AN, Ruiz MV

Language: Spanish
References: 30
Page: 99-109
PDF size: 235.25 Kb.


ABSTRACT

Introduction: hematological neoplasias have clonal origin and are characterized by great genetic heterogeneity. The development of molecular cytogenetic through fluorescence in situ hybridization (FISH) became a major advance in the cytogenetic diagnosis of these neoplasias.
Aim: to describe chromosomal abnormalities detected in patients with hematological malignancies after the introduction of this technique.
Methods: a descriptive cross-sectional study of patients with hematological malignancies was performed. Their bone marrow samples were processed at the Laboratory of Cytogenetics of the Institute of Hematology and Immunology, between July 2014 and April 2015. FISH technique was used along with various fluorescent probes.
Results: 87 samples were studied. With LSI BCR/ABL probe, 18 samples were positive of chronic myeloid leukemia and 8 patients with diagnostic of acute lymphoblastic leukemia were negative. With PML/RARα probe 17 samples of patients with promyelocytic leukemia were labeled, 10 were positive. Eight samples were labeled with probe RUNX1/RUNX1T1, one was positive. Two samples for LSI probes labeled RB1 (13q14) and one with LSI TP53 (17p13.1) were negative. One positive case 7q31 deletion was observed.
Conclusions: despite the sample is small, we consider it important to report our first results as evidence of the incorporation of the FISH technique at the IHI, which constitutes a new tool for the diagnosis, prognosis and monitoring of hematological malignances.


REFERENCES

  1. Herrera JC, Ramírez GC, Muñetón CM. Estudio de las aneuploidías del cromosoma 17 y la deleción del gen TP53 en neoplasias hematológicas, por la técnica del FISHbicolor. Iatrea. 2008 dic;21(4):364-74.

  2. Foppa CE. Aplicações da metodologia fish em citogenética de neoplasias 2009. [citado: marzo 15, 2015].Disponible en: https://repositorio.ufsc.br/bitstream/handle/123456789/132329/20092- CarolinaEFoppa.pdf?sequence=1&isAllowed=y

  3. Dohner H, Estey EH, Amadori S, Appelbaum FR, Buchner T, Burnett AK, et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European Leukemia. Blood. 2010 Jan;115(3):455-73.

  4. García JA, Giraldo P, López J, Ríos E, Sastre JL, Terol MJ, et al. Guía de consenso nacionales para el estudio y tratamiento de los pacientes con leucemia linfocítica crónica. Med Clin (Barc) 2013;141(4):175.e1-e8.

  5. Codispoti KET, Depalma L. Myelodsplastic syndrome in elderly patients: correlation of CBC with cytogenetic and FISH analysis. Int J Lab Hematol. 2010 Aug;32(4):443-8.

  6. Alfaro J, Legues M, Grebe G. Técnicas de Citogenética. En Hematología. Técnicas y procedimientos de laboratorio. Guido Osorio (ed). Santiago de Chile: Publicaciones Técnicas Mediterráneo; 1996. p.159-68.

  7. Espinet B, Salido M, Solé F. Técnicas de citogenética molecular y sus aplicaciones. Utilidad de la citogenética en el estudio de las neoplasias.Laboratori de Citogenètica i Biologia Molecular. Servei de Patologia. Hospital de Mar de Barcelona. [citado: marzo 15, 2015]. Disponible en:http://www.seapcongresos.com/2005/Cursos/Curso_Largo_Patologia_Molecular/Ci togenetica_molecular.PDF.

  8. Solé F. Bases técnicas del FISH. Servei de Patologia. Laboratori de Citogenètica i Biología Molecular Hospital del Mar. Barcelona. [citado: marzo 15, 2015]. Disponible en: https://www.seap.es/c/document_library/get_file?uuid=065873b3-02a9-452f- 9b49-605a3ebcbddd&groupId=10157

  9. Simons A, Shaffer LG, Hastings RJ. Cytogenetic Nomenclature: Changes in the ISCN 2013 compared to the 2009 edition. Cytogenet Genome Res. 2013;141(1):1-6.

  10. Hu L, Ru K, Zhang L, Huang Y, Zhu X, Liu H, et al. Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine. Biomark Res. 2014 Feb 5;2(1):3.

  11. Jabbour E, Kantarjian H. Introduction: chronic myelogenous leukemia (CML). Semin Hematol. 2007;44(Suppl 1):S1-S3.

  12. Choi HJ, Kim HR, Shin MG, Kook H, Kim HJ, Shin JH, et al. Spectra of Chromosomal Aberrations in 325 Leukemia Patients and Implications for the Development of New Molecular Detection Systems. Korean Med Sci. 2011 Jul;26(7):886-92.

  13. Dávila MI, Cerda RM, Leal CH, Arana RM, Báez E, Cortés EI. Alteraciones cromosómicas secundarias en pacientes con leucemia mieloide crónica, en un hospital de referencia del noreste de México. Gac Méd Méx. 2004 Nov-Dic;140(6):589-92.

  14. Seong CM. Monitoring the course of chronic myelogenous leukemia by FISH. Int J Hematol. 2002 Aug;76:53-7.

  15. Marzocchi G, Castagnetti F, Luatti S, Baldazzi C, Stacchini M, Gugliotta G, et al. Variant Philadelphia translocations: molecular-cytogenetic characterization and prognostic influence on frontline imatinib therapy, a GIMEMA Working Party on CML analysis. Blood. 2011 Jun;117(25):6793-800.

  16. Avvisati G, Lo Coco F, Paoloni FP, Petti MC, Diverio D, Vignetti M, et al. AIDA 0493 protocol for newly diagnosed acute promyelocytic leukemia: very long-term results and role of maintenance. Blood. 2011May;117(18):4716-25.

  17. Campbell LJ, Oei P, Brookwell R, Shortt J, Eaddy N, Ng A, et al. FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size. Biomed Res Int. 2013 Mar;2013:1-4 doi: 10.1155/2013/164501

  18. Sagrillo MR, Cardoso SH, Silva L, Graça C, Ferreira E, Hamerschlak N, et al. Leucemia promielocítica aguda: caracterização de alterações cromossômicas por citogenética tradicional e molecular (FISH). Rev Bras Hematol Hemoter. 2005;27(2):94-101

  19. Reikvam H, HatfieldKJ, KittangAO, Hovland R, BruserudØ. Acute Myeloid Leukemia with the t(8;21) Translocation: Clinical Consequences and Biological Implications. J Biomed Biotechnol. 2011 May; 2011:1-23 doi: 10.1155/2011/104631

  20. Harrison CJ, Hills RK, Moorman AV, Grimwade DJ, Hann I, Webb DK, et al. Cytogenetics of childhood acute myeloid leukemia: United Kingdom Medical Research Council Treatment Trials AML 10 and 12. J Clin Oncol. 2010 Jun;28(16):2674-81.

  21. Travella A,Bezares R, Rodríguez A, Slavutsky I. Anomalías cromosómicas estructurales nuevas en leucemia linfocítica crónica. Su valor pronóstico. Hematología. 2012 Ene- abril;16(1):8-19.

  22. Greipp PT, Smoley SA, Viswanatha DS, Frederick LS, Rabe KG, Sharma RG, et al. Patients with chronic lymphocytic leukaemia and clonal deletion of both 17p13.1 and 11q22.3 have a very poor prognosis. Br J Haematol. 2013 Nov;163(3):326-33.

  23. Cantú ES, McGill JR, Stephenson CF, Hoffmann HM, Tang L, Yan J, et al. Male - tofemale Sex ratios of abnormalities detected by fluorescence in situ hybridization in a population of chronic lymphocytic leukemia patients. Hematol Rep. 2013 Jan;5(1):13-7.

  24. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997 March;89(6):2079-88.

  25. Greenberg P, Tuechler H, Schanz J, Sanz G, Garcia- Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012 Sep;120(12):2454-65.

  26. Komrokji RS, Padron E, Ebert BL, List AF. Deletion 5q MDS: molecular and therapeutic implications. Best Pract Res Clin Haematol. 2013 Dec;26(4):365-75.

  27. Haase D. Cytogenetic features in myelodysplastic syndromes. Ann Hematol. 2008 Jul;87(7):515-526.

  28. Schanz J, Steidl C, Fonatsch C, Pfeilstocker M, Nosslinger T, Tuechler H, et al. Coalesced multicentric analysis of 2,351 patients with myelodysplastic syndromes indicates an underestimation of poor-risk cytogenetics of myelodysplastic syndromes in the internation al prognostic scoring system. J Clin Oncol. 2011 May;29(15):1963-70.

  29. Pozdnyakova O, Miron PM, Tang G, Walter O, Raza A, et al. Cytogenetic abnormalities in a series of 1,029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some un defined single chromosomal abnormalities. Cancer. 2008 Dec;113(12):3331-40.

  30. Schanz J, Tüchler H, Solé F, Mallo M, Luño E, Cervera J, et al. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge.J Clin Oncol. 2012 Mar 10;30(8):820-9.




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