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Chapter 1 – Diagnosis and classification of leukaemias


  • The diagnostic material for AML, ALL, CML and MDS is peripheral blood, bone marrow aspirate and histology
  • Cytomorphology and cytochemistry are cheap and fast and can accurately diagnose leukaemias and MDS
  • Flow cytometry is used to differentiate AML from ALL and defines ALL subgroups
  • A LAIP can be used for MRD monitoring
  • Cytogenetic evaluation by karyotyping and FISH is a diagnostic tool that also yields prognostic information
  • The WHO 2016 classification of haematological neoplasms recognises the importance of genetic aberrations and somatic mutations
  • The Philadelphia chromosome t(9;22) generates the fusion protein BCR-ABL1, which drives CML
  • BCR-ABL1+ or Ph+ ALL is a specific ALL subgroup that needs specific targeted treatment
  • Somatic mutations define clonal haematopoiesis. In a patient with cytopaenia, this results in the diagnosis of CCUS
  • Specific mutations (spliceosome) or mutational patterns (co-mutations with ASXL1, TET2, DNMT3A) might become disease-defining or diagnostic in the future

Further Reading

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; 127:2391–2405.

Chen SJ, Shen Y, Chen Z. A panoramic view of acute myeloid leukemia. Nat Genet 2013; 45:586–587.

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; 129:424–447.

Döhner H, Weisdorf DJ, Bloomfield CD. Acute myeloid leukemia. N Engl J Med 2015; 373:1136–1152.

Genovese G, Kähler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 2014; 371:2477–2487.

Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood 2012; 120:2454–2465.

Grimwade D, Ivey A, Huntly BJ. Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance. Blood 2016; 127:29–41.

Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 2014; 371:2488–2498.

Cancer Genome Atlas Research Network, Ley TJ, Miller C, Ding L, et al. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013; 368:2059–2074.

Malcovati L, Galli A, Travaglino E, et al. Clinical significance of somatic mutation in unexplained blood cytopenia. Blood 2017; 129:3371–3378.

Papaemmanuil E, Gerstung M, Bullinger L, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med 2016; 374:2209–2221.

Roberts KG, Li Y, Payne-Turner D, et al. Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med 2014; 371:1005–1015.

Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood 2015; 126:9–16.

Classification of ALL and MDS

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