Skip to main content Accessibility help
×
Hostname: page-component-586b7cd67f-t7czq Total loading time: 0 Render date: 2024-11-26T01:48:11.877Z Has data issue: false hasContentIssue false

Chapter 9 - Acute Myeloid Leukaemia

Published online by Cambridge University Press:  12 November 2020

Jon van der Walt
Affiliation:
St Thomas’ Hospital, London
Attilio Orazi
Affiliation:
Texas Tech University
Daniel A. Arber
Affiliation:
University of Chicago
Get access

Summary

Acute myeloid leukaemia (AML) is a highly complex and heterogeneous disease. Proper classification according to the 2016 World Health Organization (WHO) classification requires a systematic approach and integration of key clinical, laboratory, pathologic and genetic information [1, 2]. Great advances in our understanding of the pathogenesis and molecular underpinnings of AML have been realized since the original AML classification using the French–American–British (FAB) system (1976). This genetic revolution not only contributes to enhanced disease diagnosis and prognostication but also to ongoing improvements in therapeutic strategies.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Swerdlow, SH, Campo, E, Harris, NL, et al. (eds) World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edn. Lyon: IARC; 2017.Google Scholar
Arber, DA, Orazi, A, Hasserjian, R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–405.Google Scholar
Arber, DA, Brunning, RD, Le Beau, MM, et al. Acute myeloid leukemia with recurrent genetic abnormalities. In: Swerdlow, SH, Campo, E, Harris, NL, et al. (eds), World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edn. Lyon: IARC;2017:130–49.Google Scholar
Arber, DA, Brunning, RD, Orazi, A, et al. Acute myeloid leukemia with myelodysplasia-related changes. In: Swerdlow, SH, Campo, E, Harris, NL, et al. (eds), World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edn. Lyon: IARC;2017:150–2.Google Scholar
Vardiman, JW, Arber, DA, Brunning, RD, et al. Therapy-related myeloid neoplasms. In: Swerdlow, SH, Campo, E, Harris, NL, et al. (eds), World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edn. Lyon: IARC;2017:153–5.Google Scholar
Arber, DA, Brunning, RD, Orazi, A, et al. Acute myeloid leukemia, not otherwise specified. In: Swerdlow, SH, Campo, E, Harris, NL, et al. (eds), World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edn. Lyon: IARC;2017:156–66.Google Scholar
Arber, DA, Borowitz, MJ, Cessna, M, Etzell, J, Foucar, K, et al. Initial diagnostic workup of acute leukemia: Guideline from the College of American Pathologists and the American Society of Hematology. Arch Pathol Lab Med. 2017;141(10):1342–93.CrossRefGoogle ScholarPubMed
O’Donnell, MR, Tallman, MS, Abboud, CN, et al. NCCN Guidelines Version 3.2017. Acute myeloid leukemia. J Natl Compr Canc Netw. 2017; 15(7):926–57.Google Scholar
Döhner, H, Estey, E, Grimwade, D, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129:424–47.CrossRefGoogle ScholarPubMed
Foucar, K, Anastasi, J. Acute myeloid leukemia with recurrent cytogenetic abnormalities. Am J Clin Pathol. 2015;144:618.Google Scholar
Sangle, NA, Perkins, SL. Core-binding factor acute myeloid leukemia. Arch Pathol Lab Med. 2011;135:1504–9.Google Scholar
Schnittger, S, Kohl, TM, Haferlach, T, et al. KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. Blood. 2006;107:1791–9.Google Scholar
Duployez, N, Marceau-Renaut, A, Boissel, N, et al. Comprehensive mutational profiling of core binding factor acute myeloid leukemia. Blood, 2016;127:2451–9.Google Scholar
Opatz, S, Bamopoulos, SA., Metzeler, KHet al. The clinical mutatome of core binding factor leukemiaLeukemia 2020;34:15531562.Google Scholar
Xu, Y, McKenna, RW, Wilson, KS, et al. Immunophenotypic identification of acute myeloid leukemia with monocytic differentiation. Leukemia. 2006;20:1321–4.Google Scholar
Paschka, P, Du, J, Schlenk, RF, et al. Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German–Austrian AML Study Group (AMLSG). Blood. 2013;121:170–7.Google Scholar
Platzbecker, U, Avvisati, G, Cicconi, L, et al. Improved outcomes with retinoic acid and arsenic trioxide compared with retinoic acid and chemotherapy in non-high-risk acute promyelocytic leukemia: Final Results of the Randomized Italian-German APL0406 Trial. J Clin Oncol. 2017;35:605612.CrossRefGoogle ScholarPubMed
Gorczyca, W. Acute promyelocytic leukemia: four distinct patterns by flow cytometry immunophenotyping. Pol J Pathol. 2012;63:817.Google Scholar
Dong, HY, Kung, JX, Bhardwaj, V, McGill, J. Flow cytometry rapidly identifies all acute promyelocytic leukemias with high specificity independent of underlying cytogenetic abnormalities. Am J Clin Pathol. 2011;135:7684.Google Scholar
Kim, MJ, Cho, SY, Kim, MH, et al. FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: a case study and review of the literature. Cancer Genet Cytogenet. 2010;203:278–83.Google Scholar
Grimwade, D, Jovanovic, JV, Hills, RK, et al. Prospective minimal residual disease monitoring to predict relapse of acute promyelocytic leukemia and to direct pre-emptive arsenic trioxide therapy. J Clin Oncol. 2009;27:3650–8.Google Scholar
Adams, J, Nassiri, M. Acute promyelocytic leukemia: a review and discussion of variant translocations. Arch Pathol Lab Med. 2015;139:1308–13.Google Scholar
Grimwade, D, Hills, RK, Moorman, AV, et al.; National Cancer Research Institute Adult Leukaemia Working Group. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood. 2010;116:354–65.Google Scholar
Visconte, V, Shetty, S, Przychodzen, B, et al. Clinicopathologic and molecular characterization of myeloid neoplasms with isolated t(6;9)(p23;q34). Int J Lab Hematol. 2017;39:409–17.CrossRefGoogle Scholar
Díaz‐Beyá, M., Labopin, M., Maertens, J,. et al. Allogeneic stem cell transplantation in AML with t(6;9)(p23;q34);DEK‐NUP214 shows a favourable outcome when performed in first complete remission. Br J Haematol 2020;189:920925.CrossRefGoogle Scholar
Rogers, HJ, Vardiman, JW, Anastasi, J, et al. Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study. Haematologica. 2014;99:821–9.Google Scholar
Carroll, A, Civin, C, Schneider, N, et al. The t(1;22) (p13;q13) is nonrandom and restricted to infants with acute megakaryoblastic leukemia: a Pediatric Oncology Group Study. Blood. 1991;78:748–52.CrossRefGoogle Scholar
Soupir, CP, Vergilio, JA, Dal Cin, P, et al. Philadelphia chromosome-positive acute myeloid leukemia: a rare aggressive leukemia with clinicopathologic features distinct from chronic myeloid leukemia in myeloid blast crisis. Am J Clin Pathol. 2007;127:642–50.CrossRefGoogle ScholarPubMed
Nardi, V, Hasserjian, RP. Genetic testing in acute myeloid leukemia and myelodysplastic syndromes. Surg Pathol Clin. 2016;9:143–63.Google Scholar
Quesada, AE, Montalban-Bravo, G, Luthra, R, et al. Clinico-pathologic characteristics and outcomes of the World Health Organization (WHO) provisional entity de novo acute myeloid leukemia with mutated RUNX1Mod Pathol (2020). https://doi.org/10.1038/s41379-020-0531-2Google Scholar
Vardiman, J, Reichard, K. Acute myeloid leukemia with myelodysplasia-related changes. Am J Clin Pathol. 2015;144:2943.Google Scholar
Fang, H, He, R, Chiu, A, et al. Genetic factors in acute myeloid leukemia with myelodysplasia-related changes: A study of 186 cases. Am J Clin Pathol 2020;153:656–66.Google Scholar
Bueso-Ramos, CE, Kanagal-Shamanna, R, Routbort, MJ, Hanson, CA. Therapy-related myeloid neoplasms. Am J Clin Pathol. 2015;144:207–18.Google Scholar
Singh, ZN, Huo, D, Anastasi, J, et al. Therapy-related myelodysplastic syndrome: morphologic subclassification may not be clinically relevant. Am J Clin Pathol. 2007;127:197205.Google Scholar
Cheung, E, Perissinotti, AJ, Bixby, DLet al. The leukemia strikes back: a review of pathogenesis and treatment of secondary AML. Ann Hematol 2019;98:541559.Google Scholar
Rogers, HJ, Wang, X, Xie, Y, et al. Comparison of therapy‐related and de novo core binding factor acute myeloid leukemia: A bone marrow pathology group studyAm J Hematol. 2020;95:799808.Google Scholar
Pileri, S, Orazi, A, Falini, B. Myeloid sarcoma. In: Swerdlow, SH, Campo, E, Harris, NL, et al. (eds), World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edn. Lyon: IARC;2017:167–8.Google Scholar
Campidelli, C, Agostinelli, C, Stitson, R, Pileri, SA. Myeloid sarcoma: extramedullary manifestation of myeloid disorders. Am J Clin Pathol. 2009;132(3):426–37.CrossRefGoogle ScholarPubMed
Klco, JM, Welch, JS, Nguyen, TT, et al. State of the art in myeloid sarcoma. Int J Lab Hematol. 2011;33(6):555–65.CrossRefGoogle ScholarPubMed
Arber, DA, Baumann, I, Niemeyer, CM, et al. Myeloid proliferations associated with Down syndrome. In: Swerdlow, SH, Campo, E, Harris, NL, et al. (eds), World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edn. Lyon: IARC;2017:169–71.Google Scholar
Bhatnagar, N, Nizery, L, Tunstall, O, Vyas, P, Roberts, I. Transient abnormal myelopoiesis and AML in Down syndrome: an update. Curr Hematol Malig Rep. 2016;11:333–41.Google Scholar
Uffmann, M, Rasche, M, Zimmermann, M, et al. Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial. Blood. 2017;129:3314–21.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×