DISCLOSURE Luca Malcovati, MD. No financial relationships to disclose
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1 ICUS, CCUS and CHIP Luca Malcovati, MD Department of Molecular Medicine, University of Pavia Medical School, & Department of Hematology Oncology, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy
2 DISCLOSURE Luca Malcovati, MD No financial relationships to disclose
3 Outline From end to beginning: myeloid neoplasms with myelodysplasia, age-related clonal hematopoiesis and evolutionary trajectories of hematopoietic clones Somatic mutations in the gray zone: cytopenia of undetermined significance, hypoplastic bone marrow with hematopoietic clone(s), clonal hematopoiesis of indeterminate potential Beyond cytopenia: emerging indication for molecular screening of clonal hematopoiesis
4 Current understanding of the pathophysiology of myeloid neoplasms with myelodysplasia Bone marrow microenvironment Immune system Malcovati L. Semin Hematol. 2017;54:
5 Diagnosis of MDS: principles and minimal criteria Cytopenia is a sine qua non for any MDS diagnosis. At least 1 cytopenia must be present in order to make the diagnosis AND Dysplastic features in at least 10% of the bone marrow nucleated cells in at least one bone marrow lineage AND / OR Specific chromosomal abnormality
6 Chromosomal abnormalities in primary MDS abn 5 8% Normal 40% abn 7 8% MDS Unclassified Persistent cytopenia(s) abn 5 e 7 15% abn 17p 5% del(20q) 5% -Y 8% +8 10% t(11q23) 1% BM blasts <5% Unequivocal dysplasia <10% in one or more myeloid lineages Cytogenetic abnormality considered as presumptive evidence of MDS University of Pavia Dataset MDS-U: 1-2% MDS-defining abnormalities: 20%
7 Idiopathic Cytopenia of Undetermined Significance (ICUS) Definition criteria Relevant cytopenia in one or more lineage (Hb <11 g/dl, ANC<1.5x10 9 /L, Plt<100x10 9 /L) persistent for at least 6 months; Not explained by any other disease; No diagnostic criteria of MDS. Valent et al. Leuk Res. 2007;31:
8 Landscape of somatic mutations in MDS Papaemmanuil et al. Blood. 2013;122:
9 Age-Related Clonal Hematopoiesis Myeloid Neoplasm With Myelodysplasia
10 Prevalence of clonal hematopoiesis according to age Malcovati & Cazzola, Hematology 2015 (Data from NEJM 2014; Nat Med 2014); Zink et al. Blood. 2017;130:
11 Effect of somatic mutations on the risk of hematologic cancers Jaiswal et al. NEJM 2014;371: ; Genovese et al. NEJM 2014;371: ; Malcovati L & Cazzola M, Hematology 2015
12 Clonal Hematopoiesis of Indeterminate Potential (CHIP) Definition criteria Presence of a somatic mutation associated with hematological neoplasia, at a variant allele frequency of at least 2% Absence of persistent peripheral blood cytopenia and dysplasia Exclusion of other underlying conditions as primary reason for the observed mutation(s) Blood 2015;126:9-16; Oncotarget. 2017;8:
13 Mutation pattern and clone size in age-related clonal hematopoiesis and myeloid neoplasm N. of somatic mutations per person Variant Allele Frequency (%) Jaiswal et al. NEJM 2014;371: ; Genovese et al. NEJM 2014;371: ; Malcovati L & Cazzola M, Hematology 2015
14 Distribution of mutations in clonal hematopoiesis and myeloid neoplasms Gene Mutation MDS MPN de novo AML TET2 DNMT3A ASXL1 FLT3 NPM1 JAK2 CALR MPL SF3B1 SRSF2 >30% 20-29% 10-19% 5-9% 1-4% Jaiswal et al. NEJM 2014;371: ; Buscarlet et al. Blood : ; Malcovati L & Cazzola M, Hematology 2015
15 Expansion of a premalignant clone and evolution into myeloid neoplasms through subsequent mutation Malcovati L & Cazzola M, Hematology 2015
16 Distribution of mutations in clonal hematopoiesis and myeloid neoplasms Gene Mutation MDS MPN de novo AML TET2 DNMT3A ASXL1 FLT3 NPM1 JAK2 CALR MPL SF3B1 SRSF2 >30% 20-29% 10-19% 5-9% 1-4% Jaiswal et al. NEJM 2014;371: ; Buscarlet et al. Blood : ; Malcovati L & Cazzola M, Hematology 2015
17 SF3B1 mutation is a founding driver mutation in MDS 60 Proportion of cases (%) N. of mutations Malcovati et al. Blood 2011;118: ; Woll et al. Cancer Cell. 2014;25: ; Mian et al. Nat Commun. 2015;6:10004; Teresa Mortera-Blanco et al. Blood 2017;130:881-90
18 SF3B1 hotspot mutations induce cryptic 3 splice site selection through use of a different branch point SF3B1 Hotspot Mutations Differentially spliced genes Candidate target genes Malcovati L. BJH 2016;174:847-58; Shiozawa Y, Malcovati L et al. Nat Commun Cell Rep. 2015;13: ; Cancer Cell. 2016;30:404-17
19 Model for expansion of a myelodysplastic stem cell under the selective pressure of an abnormal bone marrow environment McKerrell et al. Cell Rep. 2015;10: ; Malcovati L & Cazzola M, Hematology 2015
20 Age-Related Clonal Hematopoiesis Myeloid Neoplasm With Myelodysplasia
21 Normal blood count Cytopenia Genetically defined MDS Cytopenia of Undetermined Significance MDS Unexplained Anemia of the Elderly AA Hypoplastic MDS Bone marrow dysplasia
22 Diagnostic value of somatic mutation analysis Negative predictive value 95% CI No genetic lesions: Positive predictive value 95% CI 2 mutations: VAF Cut-off Positive Predictive Value Negative Predictive Value Malcovati et al. Blood. 2017;129:
23 Idiopathic Cytopenia of Undetermined Significance (ICUS) Definition criteria Relevant cytopenia in one or more lineage (Hb <11 g/dl, ANC<1.5x10 9 /L, Plt<100x10 9 /L) persistent for at least 6 months; Not explained by any other disease; No diagnostic criteria of MDS. Valent et al. Leuk Res. 2007;31: Malcovati et al. Blood. 2017;129:
24 Mutation analysis in cytopenia of undetermined significance Mutated Unmutated Malcovati et al. Blood. 2017;129:
25 Clonal Cytopenia of Undetermined Significance (CCUS) Definition criteria Persistent cytopenia in one or more lineage; Not explained by any other disease; No diagnostic criteria of hematological neoplasm; Presence of a somatic mutation associated with hematologic neoplasia (VAF 2%) Blood 2015;126:9-16; Oncotarget. 2017;8:
26 TET2, ASXL1, DNMT3A Gene Implications of mutation status for the diagnosis of myeloid neoplasms Specificity SF3B (0.91-1) SRSF ( ) ZRSR2 1 (0.95-1) U2AF ( ) Highly specific mutation pattern RUNX ( ) EZH ( ) CUX ( ) CBL 0.94 ( ) BCOR 1.0 ( ) TP ( ) IDH1/ ( ) Malcovati et al. Blood. 2017;129:
27 Clinical features of patienst with CCUS ICUS Variable ICUS Unmutated CCUS Low predictive pattern CCUS High predictive pattern MDS P value Age <.001 Hb (g/dl) <.001 MCV (fl) <.001 WBC (x10 9 /L) ANC (x10 9 /L) PLT (x10 9 /L) Malcovati et al. Blood. 2017;129:
28 NORMAL HAEMOPOIESIS INEFFECTIVE CLONE Mechanisms of transition from CCUS to myeloid neoplasm SF3B1 Clonal expansion Comutation patterns Clonal progression 15 g/dl 13 g/dl 11 g/dl 9 g/dl 7 g/dl
29 Clone-extrinsic factors affecting the potential of age-related mutation patterns Stem cell attrition Conditional selection Mutagenic environment
30 Hematopoietic clones in aplastic anemia Yoshizato et al. N Engl J Med. 2015;373:35-47; Kulasekararaj et al. Blood. 2014;124: ; Ogawa S, Blood 2016;128:
31 Clinical, Histopathological and Molecular Characterization of Hypoplastic MDS Bono et al. Blood 2017;130:588
32 Cytopenia is a sine qua non for any MDS diagnosis. At least 1 cytopenia must be present in order to make the diagnosis. MDS classification 2016: principles
33 Pre-leukemic clonal hemopoiesis and risk of therapy-related myeloid neoplasms Lancet Oncol. 2017;18: Lancet Oncol. 2017;18:
34 Genetic Factors Involved in Donor-Derived Malignancy Biol Blood Marrow Transplant Jun;17(6): Biol Blood Marrow Transplant. 2016;22:
35 Prevalence (elderly population) Clinical indication to somatic mutation analysis CHIP Unexplained CUS Cytopenia MDS Incidental finding in other cytopenias Non-myeloid cancers undergoing R/CT HSC donors Identification of subjects with CH Mutation patterns ICUS vs CCUS Mutation patterns Diagnosis (NPV; PPV) Classification (SF3B1) Prognosis Therapy (TP53)
36 Martin Jädersten Eva Hellström-Lindberg Guillermo Sanz Esperanza Such Ulrich Germing Andrea Kuendgen Andrea Pellagatti Jaqueline Boultwood Yusuke Shiozawa Seishi Ogawa Claudia Haferalch Torsten Haferlach Elli Papaemmanuil Antonio Bianchessi Elisa Bono Silvia Catricalà Anna Cattaneo Chiara Elena Anna Gallì Elisabetta Molteni Gabriele Todisco Erica Travaglino Virginia Valeria Ferretti Silvia Zibellini Mario Cazzola Ghulam Mufti Judith Marsh
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