References
- 1. VAKITI A., MEWAWALLA P. Acute Myeloid Leukemia. In: StatPearls, StatPearls Publishing, Treasure Island (FL), 2021.
- 2. POGOSOVA-AGADJANYAN E., MOSELEY A., OTHUS M., APPELBAUM F. Chauncey T., Chen I. et al. AML risk stratification models utilizing ELN-2017 guidelines and additional prognostic factors: a SWOG report. Biomark Res. 2020, 8:29.
- 3. STRIMBU K., TAVEL J. What are biomarkers? Curr. Opin. HIV AIDS. 2010;5(6):463–466.
- 4. NAIR M., SANDHU S., SHARMA A., Cancer molecular markers: A guide to cancer detection and management. Seminars in Cancer Biology. 2018;52(1):39–55.
- 5. VERMA M. Personalized medicine and cancer. J Pers Med. 2012;2(1):1–14.
- 6. LADINES-CASTRO W., BARRAGAN-IBANEZ G., LUNA-PEREZ M., SANTOYO-SANCHEZ A., COLLAZO-JALLOMA J., MENDOZA-GARCIA E. et al. Morphology of leukaemias. Rev Med Hosp Gen Mex. 2016;79(2):107–113.
- 7. SCHIFFER C., STONE R. Morphologic Classification and Clinical and Laboratory Correlates. In: Holland-Frei Cancer Medicine. 6th edition. Hamilton (ON): BC Decker; 2003.
- 8. VARDIMAN J., HARRIS N., BRUNNING R. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002; 100(7): 2292–2302.
- 9. BLUM W., BLOOMFIELD C. Acute Myeloid Leukemia. In: Harrison’s Principles of Internal Medicine. McGraw-Hill, New York, 2018:739-748.
- 10. ARBER D., ORAZI A., HASSERJIAN R., THIELE J., BOROWITZ M., LE BEAU M. et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016; 127(20):2391–2405.
- 11. HEROLD T., ROTHENBERG-THURLEY M., GRUNWALD V., JANKE H., GOERLICH D., SAUERLAND M. et al. Validation and refinement of the revised 2017 European LeukemiaNet genetic risk stratification of acute myeloid leukemia. Leukemia. 2020;34:3161–3172.
- 12. DOHNER H., ESTEY E., GRIMWADE D., AMADORI S., APPELBAUM F., BUCHNER T. et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424–447.
- 13. YOHE S. Molecular Genetic Markers in Acute Myeloid Leukemia. J Clin Med. 2015;4(3):460-78.
- 14. CONNEELY S., STEVENS A. Acute Myeloid Leukemia in Children: Emerging Paradigms in Genetics and New Approaches to Therapy. Curr Oncol Rep. 2021;23(2):16.
- 15. ELGARTEN C,. APLENC, R. Pediatric acute myeloid leukemia: updates on biology, risk stratification, and therapy. Current Opinion in Pediatrics. 2020;32(1):57–66
- 16. ABEL H., DUNCAVAGE E. Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches. Cancer Genet. 2013;206(12):432–440.
- 17. WEINBERG O., SOHANI A., BHARGAVA P., NARDI V. Diagnostic work-up of acute myeloid leukemia. Am J Hematol. 2017;92(3):317–321
- 18. NAIR M., SANDHU S., SHARMA A. Prognostic and Predictive Biomarkers in Cancer. Curr Cancer Drug Targets. 2014;14(5):477–504.
- 19. IBANEZ M., SUCH E., ONECHA E., GOMEZ-SEGUI I., LIQUIORI A., SELLES J. et al. Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype. Sci Rep. 2020;10(1):5904.
- 20. BERRY N., SCOTT R., ROWLINGS P., ENJETI A. Clinical use of SNP-microarrays for the detection of genome-wide changes in haematological malignancies. Crit Rev Oncol Hematol. 2019;142:58–67.
- 21. LEISCH M., JANSKO B., ZABORANSKY N., GREIL R., PLEYER L. Next Generation Sequencing in AML-On the Way to Becoming a New Standard for Treatment Initiation and/or Modulation? Cancers (Basel). 2019;11(2):252.
- 22. JAISWAL S., NATARAJAN P., SILVER A., GIBSON C., BICK A., SHVARTZ E. et al. Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease. N Engl J Med. 2017;377(2):111–121.
- 23. PAPAEMMANUIL E., GERSTUNG M., BULLIGER L., GAIDZIK V., PASCHKA P., ROBERTS N. et al. Genomic Classification and Prognosis in Acute Myeloid Leukemia. N Engl J Med. 2016;374(23):2209–2221
- 24. WOOLBRIGHT W., WONG V., SEVERSON E., KUO D. The Application of Next-generation Sequencing Tumor Molecular Profiling in the Diagnosis and Management of a Case of Acute Myelogenous Leukemia With MLL-PTD in a Pediatric Heart Transplant Recipient. Journal of Pediatric Hematology/Oncology. 2021;43(2):246–e249
- 25. HAN E., YOO J., CHAE H., LEE S., KIM D., KIM K. et al. Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing. Clin Chim Acta. 2020;505:49-54.
- 26. LEVINE R., VALK P. Next-generation sequencing in the diagnosis and minimal residual disease assessment of acute myeloid leukemia. Haematologica. 2019;104(5):868-871.
- 27. ARTECHE-LOPEZ A., ÁVILLA-FERNANDEZ A., ROMERO R., RIVEIRO-ÁLVAREZ R., LOPEZ-MARTINEZ A., GIMENEZ-PARDO A. et al. Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Sci Rep. 2021; 11:5697.
- 28. HEATHER J., CHAIN B. The sequence of sequencers: The history of sequencing DNA. Genomics. 2016;107(1):1–8.
- 29. MENDOZA H., PODOLTSEV N., SIDDON A. Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia. Int J Lab Hematol. 2021;43 Suppl 1:86–95.
- 30. O’BRIEN G., ZYLA J., MANOLA K., PAGONI M., POLANSKA J., BADIE C. Identification of two novel mutations in human acute myeloid leukemia cases. Leuk Lymphoma. 2021;62(2):454–461.
- 31. TOKGUN P., ALAY M., ATLI TEKIN S., GULER N., TOKGUN O., DEMIRAY A. et al. Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia. Balkan J Med Genet. 2021;23(2):99–102.
- 32. PRAY L. The Biotechnology Revolution: PCR and the Use of Reverse Transcriptase to Clone Expressed Genes. Nature Education. 2008;1(1):94
- 33. GUO Y., SUN H., ZHANG D., ZHAO Y., SHI M., YANG M. et al. Development of a highly sensitive method for detection of FLT3D835Y. Biomark Res. 2020;8:30.
- 34. GORNIAK P., EJDUK A., BORG K., MAKUSH-LASIKA H., NOWAK G., LESH-MARANDA E. et al. Comparison of high-resolution melting analysis with direct sequencing for the detection of recurrent mutations in DNA methyltransferase 3A and isocitrate dehydrogenase 1 and 2 genes in acute myeloid leukemia patients. Eur J Haematol. 2016; 96:181–187.
- 35. KUMAR D., MEHTA A., PANIGRAHI M., NATH S., SAIKIA K. NPM1 Mutation Analysis in Acute Myeloid Leukemia: Comparison of Three Techniques - Sanger Sequencing, Pyrosequencing, and Real-Time Polymerase Chain Reaction. Turk J Haematol. 2018;35(1):49–53.
- 36. OMMEN H. Monitoring minimal residual disease in acute myeloid leukaemia: a review of the current evolving strategies. Ther Adv Hematol. 2016;7(1):3–16.
- 37. HUIJSMANS C., POODT J., DAMEN J., VAN DER LINDEN J., SAVELKOUL P., PRUJIT J. et al. (2012) Single Nucleotide Polymorphism (SNP)-Based Loss of Heterozygosity (LOH) Testing by Real Time PCR in Patients Suspect of Myeloproliferative Disease. PLoS ONE. 2012;7(7):e38362.
- 38. KSIAZEK T., CZOGALA M., KACZOWKA P., SADOWSKA B., PAWINSKA-WASIKOWSKA K., BIK-MULTANOWSKI M. et al. High Frequency of Fusion Gene Transcript Resulting From t(10;11)(p12;q23) Translocation in Pediatric Acute Myeloid Leukemia in Poland. Front Pediatr. 2020;8:278.
- 39. GARIBYAN L., AVASHIA N. Polymerase chain reaction. J Invest Dermatol. 2013;133(3):1–4.
- 40. HOMIG-HOLZEL C., SAVOLA S. Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics. Diagn Mol Pathol. 2012;21(4):189–206.
- 41. PAYNE A., BEAN C., HOOPER W., MILLER C. Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening. J Thromb Haemost. 2012;10(9):1951–4.
- 42. ALPAR D., DE JONG D., SAVOLA S., YIGITTOP H., KAJTAR B., KERESKAI L. et al. MLPA is a powerful tool for detecting lymphoblastic transformation in chronic myeloid leukemia and revealing the clonal origin of relapse in pediatric acute lymphoblastic leukemia. Cancer Genet. 2012;205(9):465–9.
- 43. ALHOURANI E., RINCIC M., OTHMAN M., POHLE B., SCHLIE C., GLASER A. et al. Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH). Mol Cytogenet 2014;7:79.
- 44. KOSZTOLANYI S., KISS R., ATANESYAN L., GANGO A., DE GROOT K., STEENKAMER M. et al. High-Throughput Copy Number Profiling by Digital Multiplex Ligation-Dependent Probe Amplification in Multiple Myeloma. J Mol Diagn. 2018;20(6):777–788.
- 45. YU C., LIN T., JOU S., LIN C., LIN K., LU M. et al. MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia. Sci Rep. 2020;10:11501.
- 46. RACK K., VAN DEN BERG E., HAFERLACH C., BEVERLOO H., COSTA D., ESPINET B. et al. European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms. Leukemia. 2019;33;1851–1867.
- 47. WHEELER F., KIM A., MOSSE C., SHAVER A., YENAMANDRA A., SEEGMILLER A. Limited Utility of Fluorescence In Situ Hybridization for Recurrent Abnormalities in Acute Myeloid Leukemia at Diagnosis and Follow-up. Am J Clin Pathol. 2018;149(5):418–424.