2021, Number 3
<< Back Next >>
Rev Cubana Hematol Inmunol Hemoter 2021; 37 (3)
Cytogenetic and molecular biology techniques for the diagnosis and monitoring of promyelocytic leukemia
Amor VAM, Lavaut SK, Díaz ACA
Language: Spanish
References: 23
Page: 1-15
PDF size: 281.72 Kb.
ABSTRACT
Introduction:
Promyelocytic leukemia (PML) is a subtype of acute myeloid leukemia that frequently presents with a potentially fatal coagulopathy, therefore it represents a medical emergency. In the vast majority of patients, the t (15; 17) (q24; q21) occurs, which generates the aberrant gene PML-RARA. Using different cytogenetic and molecular biology techniques that detect these aberrations, it is possible to unequivocally diagnose the entity and study minimal residual disease.
Objective:
To describe, compare and analyze cytogenetics and molecular biology techniques that are useful for diagnosis and follow-up of the patient with Promyelocytic leukemia. As well as pointing out its advantages and limitations.
Methods:
A review of the scientific bibliography of the last five years related to the subject was carried out through PUBMED. An analysis and summary of the information was made.
Analysis and synthesis of the information:
Two cytogenetic and three molecular techniques are described based on the application of the polymerase chain reaction. Its advantages and limitations are compared and analyzed.
Conclusions:
Some of these techniques are only useful for diagnosis, while others, due to their high sensitivity, are recommended for monitoring the patient with Promyelocytic leukemia.
REFERENCES
Ryan MM. Acute Promyelocytic Leukemia: A Summary. J Adv Pract Oncol. 2018 Mar;9(2):178-87. DOI: https://10.6004/jadpro.2018.9.2.4
Iaccarino L, Divona M, Ottone T, Cicconi L, Lavorgna S, Ciardi C, et al. Identification and monitoring of atypical PML/RARA fusion transcripts in acute promyelocytic leukemia. Genes Chromosomes Cancer. 2019 Jan;58(1):60-5. DOI: https://10.1002/gcc.22708
Amor AM, Hernández LL, Díaz CA, Fernández L, Ruíz V, Garrote H. La biología molecular en la precisión diagnóstica de las leucemias. Rev Cubana Hematol Inmunol Hemoter. 2018;34(3):1-7.
De Angelis F, Breccia M. Molecular Monitoring as a Path to Cure Acute Promyelocytic Leukemia. Rare Cancers Ther. 2015 Oct;3:119-32. DOI: https://10.1007/s40487-015-0013-8
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May;127(20):2391-405. DOI: https://10.1182/blood-2016-03-643544
Lo-Coco F, Ammatuna E. The biology of acute promyelocytic leukemia and its impact on diagnosis and treatment. Hematol Am Soc Hematol Educ Program.2006;156-61:514.
Sanz MA, Fenaux P, Tallman MS, Estey EH, Löwenberg B, Naoe T, et al. Management of Acute Promyelocytic Leukemia: Updated Recommendations from an Expert Panel of the European Leukemia Net. Blood. 2019 Apr; 133(15):1630-43
Van Dongen JJM, Macintyre EA, Gabert JA, Delabesse E, Rossi V, Saglio G, et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia. 1999 Dec;13(12):1901-28. DOI: https://10.1038/sj.leu.2401592
Wen L, Xu Y, Yao L, Wang N, Wang Q, Liu T, et al. Clinical and molecular features of acute promyelocytic leukemia with variant retinoid acid receptor fusions. Haematologica 2019 May; 104(5):e195-e199. DOI: https://10.3324/haematol.2018.205369
Iaccarino L, Ottone M, Cicconi T, Lavorgna L, Ciardi S, Alfonso C, et al. Identification and monitoring of atypical PML/RARA fusion transcripts in acute promyelocytic leukemia. Genes Chromosomes Cancer.2019 Jan;58(1):60-5. DOI: https://10.1002/gcc.22708
King RL, Naghashpour M, Watt CD, Morrissette JJD, Bagg A. A Comparative Analysis of Molecular Genetic and Conventional Cytogenetic Detection of Diagnostically Important Translocations in more than 400 Cases of Acute Leukemia, Highlighting the Frequency of False-Negative Conventional Cytogenetics. Am J Clin Pathol 2011;135:921-8. DOI: https://10.1309/AJCPJCW6BY0CNIHD
Wan TSK, So CC, Hui KC, Yip SF, Ma ESK, Chan LC. Diagnostic utility of dual fusion PML/RARa translocation DNA probe (D-FISH) in acute promyelocytic leukemia. Oncol Rep. 2007 Apr; 17:799-805. DOI: https://10.3892/or.17.4.799
Polampalli S, Choughule A, Prabhash K, Amare P, Baisane C, Kabre S, et al. Role of RT-PCR and FISH in diagnosis and monitoring of acute promyelocytic leukemia. Indian J Cancer, 2011 Jan-Mar;48(1):60-7. DOI: https://10.4103/0019-509X.75831
Coccaro N, Tota G, Anelli L, Zagaria A, Specchia G, Albano F. Digital PCR: A Reliable Tool for Analyzing and Monitoring Hematologic Malignancies. Int. J Mol Sci. 2020 Apr;21(9):3141. DOI: https://10.3390/ijms21093141
Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring HarbSymp Quant Biol. 1986;51:263-73
Holland P, Abramson R, Watson R, Gelfand D. Detection of specific polymerase chain reaction product by utilizing the 5'----3' exonuclease activity of Thermusaquaticus DNA polymerase. Proc Natl Acad Sci USA. 1991;88:7276-80
Higuchi R, Dollinger G, Walsh S, Griffith R. Simultaneous amplification and detection of specific of DNA sequences. Bio/Technol. 1992 May; 10(4):413-7. DOI: 10.1038/nbt0492-413
Liu YF, ZhuYM, ShenSH, ShenZX, LiJM, ChenSJ, et al. Molecular response in acute promyelocytic leukemia: a direct comparison of regular and real-time RT-PCR. Leukemia. 2006 May;20:1393-9. DOI: https://10.1038/sj.leu.2404262
Rasekh EO, Elsayed GM, Fathy S. No prognostic significance of normalized copy number of PML-RARA transcript at diagnosis in patients with acute promyelocytic leukemia. Hematol Oncol Stem Cell Ther(2020). DOI: https://doi.org/10.1016/jhemonc.2020.07.002
Beillard E, Pallisgaard N, van der Velden VHJ,Bi W,DeeR,van der Schoot E,et al.Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using 'real-time' quantitative reverse transcriptase polymerase chain reaction (RQ-PCR) - a Europe against cancer program. Leukemia. 2003;17(12):2474-86. DOI: https://10.1038/sj.leu.2403136
Yuan D, Cui M, Yu S, Wang H, Jing R. Droplet digital PCR for quantification of PML-RARa in acute promyelocytic leukemia: a comprehensive comparison with real-time PCR. Anal Bioanal Chem. 2019 Feb;411(4):895-903. DOI: https://10.1007/s00216-018-1508-6
Andreani G, Cilloni D. Strategies for minimal residual disease detection: current perspectives. Blood Lymphat Cancer. 2019 Feb12;9:1-8. DOI: https://doi.org/10.2147/BLCTT.S172693
Brunetti C, Anelli L, Zagaria A, Minervini A, Minervini CF, Casieri P, et al. Droplet Digital PCR Is a Reliable Tool for Monitoring Minimal Residual Disease in Acute Promyelocytic Leukemia. J Mol Diagn. 2017 May; 19(3):437-44. DOI: https://10.1016/j.jmoldx.2017.01.004