Myelodysplastic syndromes and the new WHO 2016 classification

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1 Myelodysplastic syndromes and the new WHO 2016 classification 32nd General Annual Meeting of the Belgian Hematology Society February 2017 Gregor Verhoef, Departement of Hematology, University Hospital Leuven

2 Morphology for MDS 2017:?

3 Still no MDS diagnosis without a hematopathologist Cazzola et al. Blood 2013;122:4021

4 Leukemic clone Patterns of evolution of MDS Really bad ones Not-so-good ones Ones that are not what they seem Good ones Time

5 Courtesy Michel Delforge

6 Not so FABulous Technical reason Sampling error, dry tap Mixing blood during aspiration Single cells: not adequate for anatomy of hemopoiesis More specific for MDS Distinction between dysplastic promyelocyte versus myeloblast Unilineage cytopenia versus multilineage cytopenia? Unilineage dysplasia versus multilineage dysplasia CMML: MDS versus myeloproliferative neoplasia? Cytogenetic, histology en molecular abnormalities??

7 MDS FAB Bournemouth Goasguen Düsseldorf Lille Leuven (ALIPs) IPSS WHO WHO IPSS IPSS-R

8 Evolution rather than a revolution in MDS classification FAB MDS categories RA RARS RAEB RAEB-T CMML RA, refractory anaemia; RARS, refractory anaemia with ringed sideroblasts; RAEB-)T), refractory anemia with excess blasts (in transformation); RN, RT, refractory neturopenia/ thrombocytopenia; RCUD, refract. cytopenia with unilineage dysplasia; RCMD, with multilineage dysplasia; CMML, chronic myelomonocytic leukemia; AML, acute myelogenous leukemia WHO 2001 Changes from FAB Blast requirement for AML reduced from 30% to 20% Eliminated RAEB-T category Added multilineage dysplasia and 5qsyndrome Shifted CMML to MDS/MPN WHO 2008 Changes from WHO MDS categories Added: RN, RT (with RA, comprise RCUD); childhood MDS Merged: RCMD + RCMD-RS RCMD; tmds/t- AML due to any cause Refined: MDS-U WHO 2016 Changes from WHO 2008 new terminology: MDS with single lineage or multi-lineage dysplasia MDS with excess blasts more impact of cytogenetics Bennett JM, et al. Br J Haematol.1982;52: Mufti GJ, et al. Haematologica 2008;93: Garcia-Manero G, Hematol Am Soc Hematol Educ Prog. 2010;2010: Haase D, et al. Blood. 2007;110: Steensma DP, et al. Hematology Am Soc Hematol Educ Program 2009; Vardiman JW, et al. Blood 2009:114: Arber et al,blood 2016;127:2391.

9 WHO 2008 versus 2016 MDS 2008 MDS 2016 Refractory cytopenia with unilineage dysplasia refractory anemia refractory neutropenia refractory thrombocytopenia Refractory cytopenia with multilineage dysplasia MDS with single lineage dysplasia MDS with multilineage dysplasia

10 Verburgh E, Achten R, Verhoef G. Leukemia 2007;21(4): Maassen et al, Leukemia Reseach, 2012, 37:64-67

11 Cytopenia is a sine qua non Specific type of cytopenia, eg, refractory anemia, has only a minor impact on disease classification and does not always correlate with the lineage dysplasia Type of cytopenia is less important than the number of dysplasia lineages (and blast percentage) Therefore: simplify this category: MDS with single lineage dysplasia versus MDS with multilineage dysplasia

12 Therefore: MDS with single lineage dysplasia (MDS-SLD) and MDS with multilineage dysplasia (MDS-MLD) Name Dysplasia lineage* Cytopenia** Ring sideroblasts BM and PB blasts MDS-SLD 1 1 or 2 <15%/<5%*** BM<5%, PB<1%, no Auer rods MDS-MLD 2 or <15%/<5%*** BM<5%, PB<1%, no Auer rods cytogenetics Any, unless fulfills all criteria for MDS with isolated del(5q) Any, unless fulfills all criteria for MDS with isolated del(5q) * 10% dysplasia **Hb<10 g/dl, Platelets<100x10 9 /L, neutrophils<1.8x10 9 /L, monocytes<1x10 9 /L ***if SF3B1 mutation is present

13 Case year old patient, complaints of fatigue. Hematology: Hb 8.5 g/dl, MCV 102 fl, WBC 5.5 x 10 9 /L (neutrophils 2.4), thrombocytes 55 x 10 9 /L.

14 Dysplasia>10% Importance of morphology Welcome and Introduction (Stef Meers) Morphology (Gregor Verhoef) Flow cytometry (A. Van de Loosdrecht) Coffee break Cytogenetics (P. Vandenberghe) Molecular genetics (J. Jansen) Questions and discussion Reception

15 Case year old patient, complaints of fatigue. Hematology: Hb 8.5 g/dl, MCV 102 fl, WBC 5.5 x 10 9 /L, normal differentiation, thrombocytes 55 x 10 9 /L. Cytogenetic: 46 XY Cytopenia: 2 lineages Dysplasia: 1 lineage Diagnosis:..

16 Case year old patient, complaints of fatigue, easy bruising. Hematology: Hb 10.5 g/dl, MCV 102 fl, WBC 5.5 x 10 9 /L, normal differentation, thrombocytes 55 x 10 9 /L.

17

18 Bone marrow: blasts 2%

19 Case year old patient, complaints of fatigue, easy bruising. Hematology: Hb 10.5 g/dl, MCV 102 fl, WBC 5.5 x 10 9 /L, normal differentiation, thrombocytes 55 x 10 9 /L. Cytopenia: 2 Dysplasia: 3 Diagnosis:.

20 Diagnostic approach to MDS Pertinent clinical data Peripheral smear Complete hemogram Morphology of bone marrow Cytogenetics and/or interphase analysis Serum folate, vitamin B12, virology (HIV) Exclude reactive dysplasia!! Dysplasia is not always reproducible!

21

22 WHO 2001/2008 versus 2016 MDS 2001 MDS 2008 MDS 2016 Refractory anemia with ring sideroblast Refractory cytopenia with multilineage dysplasia-ring sideroblasts Refractory anemia with ring sideroblasts Refractory cytopenia with multilineage dysplasia If ring sideroblasts 15%/ 5% (SF3B1 mutation) MDS-RS-SLD MDS-RS-MLD

23 fprognostic irrelevance of ring sideroblast percentage in WHO-defined MDS without excess blasts Patnaik et al., Blood 2012; 119(24):

24 Macovati L., et al. SF3B1 mutation identifies a distinct subset of myelodysplastic syndromes with ring sideroblasts Blood 2015;126(2):

25 Mutation patterns in MDS with ring sideroblasts and <5% bone marrow blasts. Luca Malcovati et al. Blood 2015;126:

26 OS and CI of disease progression of patients with MDS with ring sideroblasts classified according to SF3B1 mutation status. All MDS patients (<5% blasts) RARS and RCMD-RS Luca Malcovati et al. Blood 2015;126:

27 OS and CI of disease progression of patients with MDS associated with SF3B1 mutation. MDS with SF3B1 mutation Luca Malcovati et al. Blood 2015;126:

28 MDS with ringed sideroblasts (MDS-RS) Name Dysplasia lineage* Cytopenia** Ring sideroblasts BM and PB blasts MDS-RS-SLD 1 1 or 2 15%/ 5%*** BM<5%, PB<1%, no Auer rods MDS-RS-MLD 2 or %/ 5%*** BM<5%, PB<1%, no Auer rods cytogenetics Any, unless fulfills all criteria for MDS with isolated del(5q) Any, unless fulfills all criteria for MDS with isolated del(5q) * 10% dysplasia **Hb<10 g/dl, Platelets<100x10 9 /L, neutrophils<1.8x10 9 /L, monocytes<1x10 9 /L ***if SF3B1 mutation is present

29 Case year old female presented with complaints of fatigue. Hematology: Hb 8.5 g/dl, MCV 105 fl, WBC 3.5 x 10 9 /L, normal differentiation, thrombocytes 355 x 10 9 /L.

30

31

32

33 Case year old female presented with complaints of fatigue. Hematology: Hb 8.5 g/dl, MCV 105 fl, WBC 3.5 x 10 9 /L, normal differentiation, thrombocytes 355 x 10 9 /L. Cytopenia: two lineages Dysplasia: one lineage, 50% ringsideroblasts Diagnosis:.... (SF3B1 mutation present)

34 Your diagnosis?? 68-year old female, only complaints of fatigue Hb 9.8 g/dl, MCV 110 fl, WBC 6.0 x 10 9 /L with 63 % neutrophils, 9 % monocytes, 28 % lymphocytes, thrombocytes 515 x 10 9 /L. Unremarkable history.

35 5q- syndrome

36 36

37 MDS-003: key results Erythroid response (n=148) 1 Cytogenetic response (n=85) 1 Median time to response, weeks (range) 1 : 4.6 (1 49) Response for 1 year, % 2 : 62 Data from MDS-003 showed that lenalidomide can induce durable erythroid responses in patients with MDS. 1. List A, et al. N Engl J Med 2006;355: ; 2. Padron E, et al. Expert Rev Hematol 2011;4:

38 MDS-003/004 Retrospective Analysis Overall Survival 295 LEN-treated patients, vs 125 controls with del5q Median OS was 5.2 years for LEN-treated patients vs 3.8 years for untreated patients (HR: 0.59; p = 0.012) 38 Kuendgen A, et al. Leukemia. 2013;27:

39 Fenaux et al. Blood 2007;110:4385

40

41 WHO 2008 versus 2016 MDS 2008 MDS 2016 MDS with isolated del(5q) MDS with isolated del(5q)

42 MDS with isolated del(5) Name MDS with isolated del(5q) Dysplasia lineage* Cytopenia** Ring siderobllsts BM and PB blasts or 2 None or any BM<5%, PB<1%, no Auer rods cytogenetics del(5q) alone or with 1 additional abnormality except - 7 or del(7q) **Hb<10 g/dl, Platelets<100x10 9 /L, neutrophils<1.8x10 9 /L, monocytes<1x10 9 /L Germing et al. Leukemia 2012;26(6): Mallo et al. Leukemia 2011;25(1): Schanz et al 2012;30(8):

43 High risk MDS: WHO 2008 versus 2016 MDS 2008 MDS 2016 Refractory anemia with excess blasts MDS-EB

44 High risk MDS: MDS with excess blasts (MDS-EB) Name Dysplasia lineage* Cytopenia** Ring sideroblasts BM and PB blasts MDS-EB none or any BM 5-9% or PB 2-4%, no Auer rods MDS-EB none or any BM 10-19%, PB 5-19%, or Auer rods cytogenetics Any Any * 10% dysplasia **Hb<10 g/dl, Platelets<100x10 9 /L, neutrophils<1.8x10 9 /L, monocytes<1x10 9 /L ***if SF3B1 mutation is present

45 International Prognostic Scoring System (IPSS) Points Prognostic variable Bone marrow blasts (%) < Number of cytopenias Cytogenetic category 2 Good Intermediate Poor Median survival (years) Risk groups Score 60 >60 All patients Low Intermediate I Intermediate II High Platelets <100,000/µL, Hemoglobin <10 g/dl, Neutrophils <1800/µL; 2. Good = normal, 5q-, 20q-, -Y; intermediate = other anomalies; poor = complex ( 3 abnormalities), chromosome 7 anomalies Greenberg P et al. Blood 1997;89:

46 Prognostic evaluation of patients with MDS: IPSS-Revised Scoring system Overall risk score Cytogenetics V good Good Int Poor V poor BM blasts (%) 2% >2 <5% 5 10% >10% Hb level (g/dl) 10 8 <10 < ANC (x10 9 /L) 0.8 < Platelets (x10 9 /L) <100 < Very low 1.5 Low >1.5 3 Intermediate >3 4.5 High >4.5 6 Very high >6 Greenberg P, et al. Blood 2012;120:

47 Case 4 63-year old female, fatigue, several infections during the last year: Hb 7,5 g/dl, MCV 103 fl, WBC 2.0 x 10 9 /L with 2% blasts, 21% neutrophils, 26 % monocytes, 51% lymphocytes, thrombocytes 89 x 10 9 /L.

48

49

50 9% blasten

51 Case 4 63-year old female, fatigue, several infections during the last year: Hb 7,5 g/dl, MCV 103 fl, WBC 2.0 x 10 9 /L with 2% blasts, 21% neutrophils, 26 % monocytes, 51% lymphocytes, thrombocytes 89 x 10 9 /L. Pb: 2 % blasts BM: 9 % blasts Diagnosis:..

52 Waste container of MDS MDS, unclassifiable (MDS-U) WHO 2008=WHO 2016

53 MDS, unclassifiable (MDS-U) Name MDS with 1% blood blasts MDS with single lineage dysplasia and pancytopenia Based on defining cytogenetic abnormality Dysplasia lineage* Cytopenia* * Ring sideroblasts BM and PB blasts none or any BM<5%, PB=1%, no Auer rods 1 3 none or any BM<5%, PB<1%, no Auer rods 0 (<10%) 1-3 <15% BM<5%, PB<1%, no Auer rods cytogenetics Any Any MDS-defining abnormality * 10% dysplasia **Hb<10 g/dl, Platelets<100x10 9 /L, neutrophils<1.8x10 9 /L, monocytes<1x10 9 /L

54 MDS defining abnormalities and minimal dysplasia (<10%) Abnormality MDS t-mds Unbalanced +8* -7 or del(7) -5 or del(5q) del (20q)* -Y* i(17q) or t(17q) -13 or del(13q) del(11q) del(12p) or t(12p) del(9q) idic(x)(q13) Balanced t(11;16)(q23;p13.3) t(3;21)(q26.2;q22.1) t(1;3)((p36.3;q21.1) t(2;11)(p21;q23) inv(3)(q21q26.2) t(6;9)(p23;q34) 10% 10% 10% 5-8% 5% 3-5% 3% 3% 3% 1-2% 1-2% 1% 1% 1% 1% 50% 40% 3% 2%

55 Case 5 69-year old female visit her general practioner because of easy bruising. Unremarkable history, no medication Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with a normal differentiation, thrombocytes 115 x 10 9 /L.

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57

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59 normal

60 Your diagnosis? (Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with normal differentiation, thrombocytes 115 x 10 9 /L, 2% BM blasts, dysplastic megakaryocytes <10%. Cytogenetics: 46 XY, del (20q) WHO 2016: Abnormality Unbalanced +8* -7 or del(7) -5 or del(5q) del (20q)* -Y* i(17q) or t(17q) -13 or del(13q) del(11q) del(12p) or t(12p) del(9q) idic(x)(q13) MDS 10% 10% 10% 5-8% 5% 3-5% 3% 3% 3% 1-2% 1-2%

61 Your diagnosis? (Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with normal differentiation, thrombocytes 115 x 10 9 /L, 2% BM blasts, dysplastic megakaryocytes <10%. Cytogenetics: 46 XY, del (20q) WHO 2016: No MDS Abnormality Unbalanced +8* -7 or del(7) -5 or del(5q) del (20q)* -Y* i(17q) or t(17q) -13 or del(13q) del(11q) del(12p) or t(12p) del(9q) idic(x)(q13) MDS 10% 10% 10% 5-8% 5% 3-5% 3% 3% 3% 1-2% 1-2%

62 Your diagnosis? (Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with normal differentiation, thrombocytes 115 x 10 9 /L, 2% BM blasts, dysplastic megakaryocytes <10%. Cytogenetics: 46 XY, del (11q) WHO 2016: Abnormality Unbalanced +8* -7 or del(7) -5 or del(5q) del (20q)* -Y* i(17q) or t(17q) -13 or del(13q) del(11q) del(12p) or t(12p) del(9q) idic(x)(q13) MDS 10% 10% 10% 5-8% 5% 3-5% 3% 3% 3% 1-2% 1-2%

63 Your diagnosis? (Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with normal differentiation, thrombocytes 115 x 10 9 /L, 2% BM blasts, dysplastic megakaryocytes <10%. Cytogenetics: 46 XY, del (11q) WHO 2016: MDS-U (MDS-unclassifible) Abnormality Unbalanced +8* -7 or del(7) -5 or del(5q) del (20q)* -Y* i(17q) or t(17q) -13 or del(13q) del(11q) del(12p) or t(12p) del(9q) idic(x)(q13) MDS 10% 10% 10% 5-8% 5% 3-5% 3% 3% 3% 1-2% 1-2%

64 Case 5 69-year old female visit her general practioner because of easy bruising. Unremarkable history, no medication Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with a normal differentiation, thrombocytes 115 x 10 9 /L. No significant dysplasia (<10%) Cytogenetics: 46, XX

65 Next-generation sequencing Mutations in TET2, ASXL1

66 Case 5 69-year old female visit her general practioner because of easy bruising. Unremarkable history, no medication Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with a normal differentiation, thrombocytes 115 x 10 9 /L. Microscopie: dysplasia mega s<10% Cytogenetics: 46, XX Mutations in TET2, ASXL1 Your diagnosis WHO 2016:

67 SF3B1 TET2 SFRS2 ASXL1 DNMT3A RUNX1 U2AF1 TP53 EZH2 IDH2 STAG2 ZRSR2 CBL NRAS BCOR JAK2 CUX1 IDH1 KRAS EP300 NPM1 PHF6 GATA2 PTPN11 CREBBP KIT MLL2 MPL NF1 WT1 IRF1 RAD21 ATRX CDKN2A ETV6 KDM6A CEBPA FLT3 GNAS PTEN SH2B3 BRAF CTNNA1 From Fialkow s theory and Ras mutations to genetic complexity in MDS Genomic architecture of MDS Genes recurrently mutated in MDS Epigenetic Regulation (~60-70%) RNA Splicing (~60%) Transcriptions (~30%) Signal Transduction (~25%) Cohesin/CTCF (~10-15%) A variety of genetic alterations has been identified, although none has been specifically associated with MDS Modified from Papaemmanuil, et al. Blood. 2013; 122:

68 Genetic alterations in AA. (A) Somatic mutations and other genetic lesions in AA. Mutations and CNAs indicated on the left are shown for individual patients (shown horizontally). Seishi Ogawa Blood 2016;128:

69 Jaiswal et al. New Engl J Med 2014;371:2488

70 Case 5 69-year old female visit her general practioner because of easy bruising. Unremarkable history, no medication Hb 15.5 g/dl, MCV 85 fl, WBC 6.0 x 10 9 /L with a normal differentiation, thrombocytes 115 x 10 9 /L. Minimal dysplasia <10%) Cytogenetics: 46, XX Mutations in TET2, ASXL1 Your diagnosis (WHO) 2017: CHIP or CCUS Clonal hematopoiesis of indeterminate potential Or Clonal cytopenia(s) of undeterminated significance

71 Still no MDS diagnosis and WHO classification without a hematopathologist Cazzola et al. Blood 2013;122:4021

72 Other members of MDS family in WHO 2016 Myelodysplastic /myeloproliferative neoplasms (MDS/MPN) Chronic myelomonocytic leukemie (CMML) Atypical chronic myeloid leukemia (acml, BCR-ABL1-negative) Juvenile myelomonocytic leukemia (JMML) MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) MDS/MPN, unclassifiable Acute myeloid leukemia (AML) and related neoplasms AML with myelodysplasia-related changes. No recurrent genetic abnormality. 50% or more dysplasia in at least two lineages. History of MDS. MDS-related cytogenetic abnormalities (with exception of del(9q) Therapy-related myeloid neoplasms. MDS/AML following cytotoxic therapy with..cytogenetic abnormality

73

74 MDS FAB Bournemouth Goasguen Düsseldorf Lille Groningen Rotterdam Leuven IPSS WHO WHO revised-1 WHO revised-2 R-IPSS WHO Revised Recurrent genetic abnormalities??

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