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Myelodysplastic syndrome and acute myeloid leukaemia

Myelodysplastic syndrome and acute myeloid leukaemia. Dr. Edmond S. K. Ma Division of Haematology Department of Pathology The University of Hong Kong. Myelodysplastic syndrome.

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Myelodysplastic syndrome and acute myeloid leukaemia

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  1. Myelodysplastic syndrome and acute myeloid leukaemia Dr. Edmond S. K. Ma Division of Haematology Department of Pathology The University of Hong Kong

  2. Myelodysplastic syndrome • A group of clonal haemopoietic stem cell disorder characterized by dysplasia and ineffective haemopoiesis in one or more major myeloid cell line • < 20% blasts in blood and bone marrow

  3. Myelodysplastic syndrome • A disease of the elderly • Incidence : 3 – 20 /100,000 • Increasing number of therapy related MDS • Clinical features: related to cytopenia • Etiology: prior chemoradiotherapy, benzene exposure, cigarette smoking, inherited syndromal disorders (e.g. Fanconi’s anaemia)

  4. Dyserythropoiesis • Nuclear budding • Inter-nuclear bridging • Karyorrhexis • Multinuclearity • Megaloblastoid maturation • Ringed sideroblast • Vacuolation • PAS +ve

  5. Dyserythropoiesis

  6. Dyserythropoiesis

  7. Dysgranulopoiesis • Small size • Nuclear hypolobulation (pseudo-Pelger Heut) • Hypersegmentation • Hypogranularity • Pseudo-Chediak Higashi granules

  8. Dysgranulopoiesis

  9. Dysgranulopoiesis

  10. Dysmegakaryocytopoiesis • Hypolobulated micro-megakaryocyte • Non-lobulated nuclei in megakaryocyte of all sizes • Multiple, widely separated nuclei

  11. Megakaryocyte dysplasia

  12. Megakaryocyte dysplasia

  13. Abnormal localization of immature precursors • Presence of 3 or more small clusters of myeloblasts and promyelocytes (5 – 8 cells) in marrow trephine biopsy in the central portion of the marrow away from the vascular structure and the endosteal surface of the bone trabeculae

  14. Abnormal localization of immature precursors

  15. Genetics • 5q- syndrome • del (17p), small hypolobulated or vacuolated neutrophils, p53 mutations, poor prognosis • -5/5q- • -7/7q- • del(20q) • 3q21q26 abnormality

  16. Cytogenetics and prognosis • Good risk • Normal, isoloted 5q-, isolated 20q-, -Y • Poor risk • Complex changes (> 3 abnormalities) • Chromosome 7 abnormalities • Intermediate risk • All other changes

  17. International Prognostic Scoring System Score00.511.5 • % blasts <5 5-10 - 11-20 • Karyotype Good Intermediate Poor • Cytopenia 0-1 2-3 • Cytopenia: Hb < 10 g/dL; neutrophils < 1.5 X 109/L; plt < 100 X 109/L • Risk groups Low = 0; Intermediate-1 = 0.5-1; Intermediate-2 = 1.5-2; High = 2.5

  18. PB anaemia, no or rare (<1%) blasts MB Unilineage dysplasia, restricted to erythroid lineage, < 5% blasts, < 15% ringed sideroblasts Refractory anaemia

  19. Refractory anaemia • Exclusion of known secondary causes of dyserythropoiesis • If no cytogenetic abnormality present, reassess after 6 months • Protracted clinical course, median survival is 66 months, leukaemic transformation 6%

  20. Giant pronormoblast is parvovirus infection

  21. PB Anaemia No blast MB  15% ringed sideroblasts Erythroid dysplasia only <5% blasts Refractory anaemia with ringed sideroblasts

  22. Ringed sideroblast • Erythroid precursor • One third or more of the nucleus • Encircled by 10 or more siderotic granules

  23. Refractory anaemia with ringed sideroblasts • Indolent clinical course • Median survival = 6 years • Leukaemic transformation 1 – 2 %

  24. PB Bicytopenia or pancytopenia No or rare blasts No Auer rod < 1 X 109/L monocytes MB Dysplasia in  10% of cells in two or more myeloid cell lines < 5% blasts No Auer rod < 15% ringed sideroblasts Refractory cytopenia with multilineage dysplasia

  25. Refractory cytopenia with multilineage dysplasia

  26. Refractory cytopenia with multilineage dysplasia

  27. Refractory cytopenia with multilineage dysplasia

  28. PB Bicytopenia or pancytopenia No or rare blasts No Auer rod < 1 X 109/L monocytes MB Dysplasia in  10% of cells in two or more myeloid cell lines < 5% blasts No Auer rod  15% ringed sideroblasts Refractory cytopenia with multilineage dysplasia and ringed sideroblasts

  29. Refractory cytopenia with multilineage dysplasia • Cytogenetic abnormality seen in 50% +8 Monosomy 7 del(7q) Monosomy 5 del (5q) del (20q) Complex karyotype

  30. Refractory cytopenia with multilineage dysplasia • Leukaemic transformation 11% • Overall median survival 33 months • RCMD and RCMD-RS are similar in clinical course • Patients with complex karyotype have similar clinical course to RAEB

  31. PB Cytopenia <5% blasts No Auer rod <1% monocytes MB Unilineage or multilineage dysplasia 5-9% blasts No Auer rod Refractory anaemia with excess blasts-1

  32. PB Cytopenia 5-19 % blasts Auer rod ± <1% monocytes MB Unilineage or multilineage dysplasia 10-19% blasts Auer rod ± Refractory anaemia with excess blasts-2

  33. Refractory anaemia with excess blasts-2

  34. Refractory anaemia with excess blasts • Blast cells show myeloid phenotype • Leukaemic transformation • RAEB-1 25% • RAEB-2 33% • Median survival • RAEB-1 18 months • RAEB-2 10 months

  35. PB Cytopenias No or rare blasts No Auer rods MB Unilineage dysplasia, one myeloid cell line (non-erythroid) <5% blasts No Auer rod Myelodysplastic syndrome, unclassifiable

  36. PB Anaemia Usually normal or increased platelet count <5% blasts MB Normal or increased megakaryocytes with hypolobulated nuclei <5% blasts Isolated 5q- abnormality No Auer rod 5q- syndrome

  37. 5q- syndrome

  38. Acute myeloid leukaemia • Acute myeloid leukaemia with recurrent genetic abnormalities • Acute myeloid leukaemia with multilineage dysplasia • Acute myeloid leukaemia and myelodysplastic syndrome, therapy-related • Acute myeloid leukaemia not otherwise categorized

  39. Acute myeloid leukaemia

  40. Acute myeloid leukaemia

  41. Acute myeloid leukaemia • The blast % is lowered from 30% (FAB) to 20% (WHO) • Median age of onset = 60 yrs • Incidence 4 –10 / 100,000 • Etiology

  42. Myeloblasts versus lymphoblasts

  43. Acute myeloid leukaemia

  44. Acute lymphoblastic leukaemia

  45. Acute myeloid leukaemia: cytochemistry Myeloperoxidase Sudan Black B Non-specific esterase a-naphthyl butyrate a-naphthyl acetate

  46. Cytochemistry: MPO

  47. Cytochemistry: NSE

  48. Cytochemistry

  49. Acute myeloid leukaemia: role of immunophenotyping • Distinction of minimally differentiated AML from acute lymphoblastic leukaemia • Recognition of AML-M7 • Recognition of specific AML sub-categories (e.g CD56+ve AML) • Diagnosis of biphenotypic leukaemia • However, immunophenotyping is not mandatory in typical cases of AML, unlike in ALL where a phenotypic diagnosis is needed in every case

  50. Acute myeloid leukaemia: role of immunophenotyping

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