{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:35:21Z","timestamp":1787027721785,"version":"build-2736575974"},"reference-count":108,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T00:00:00Z","timestamp":1619481600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Myelodysplastic\/myeloproliferative neoplasms (MDS\/MPN) are myeloid neoplasms characterized by the presentation of overlapping features from both myelodysplastic syndromes and myeloproliferative neoplasms. Although the classification of MDS\/MPN relies largely on clinical features and peripheral blood and bone marrow morphology, studies have demonstrated that a large proportion of patients (~90%) with this disease harbor somatic mutations in a group of genes that are common across myeloid neoplasms. These mutations play a role in the clinical heterogeneity of these diseases and their clinical evolution. Nevertheless, none of them is specific to MDS\/MPN and current diagnostic criteria do not include molecular data. Even when such alterations can be helpful for differential diagnosis, they should not be used alone as proof of neoplasia because some of these mutations may also occur in healthy older people. Here, we intend to review the main genetic findings across all MDS\/MPN overlap syndromes and discuss their relevance in the management of the patients.<\/jats:p>","DOI":"10.3390\/cancers13092120","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T21:18:20Z","timestamp":1619558300000},"page":"2120","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Genetic Aspects of Myelodysplastic\/Myeloproliferative Neoplasms"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3176-6271","authenticated-orcid":false,"given":"Laura","family":"Palomo","sequence":"first","affiliation":[{"name":"MDS Group, Institut de Recerca Contra la Leuc\u00e8mia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, 08916 Badalona, Spain"},{"name":"Experimental Hematology, Vall d\u2019Hebron Institute of Oncology (VHIO), Vall d\u2019Hebron Barcelona Hospital Campus, Universitat Aut\u00f2noma de Barcelona, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4528-1219","authenticated-orcid":false,"given":"Pamela","family":"Acha","sequence":"additional","affiliation":[{"name":"MDS Group, Institut de Recerca Contra la Leuc\u00e8mia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3251-2161","authenticated-orcid":false,"given":"Francesc","family":"Sol\u00e9","sequence":"additional","affiliation":[{"name":"MDS Group, Institut de Recerca Contra la Leuc\u00e8mia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,27]]},"reference":[{"key":"ref_1","unstructured":"Swerdlow, S.H., Campo, E., Harris, N.L., Jaffe, E.S., Pileri, S.A., Stein, H., and Thiele, J. (2017). WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues, IARC. [4th ed.]."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2428","DOI":"10.1200\/JCO.2012.47.3314","article-title":"Prognostic Score Including Gene Mutations in Chronic Myelomonocytic Leukemia","volume":"31","author":"Itzykson","year":"2013","journal-title":"JCO"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/ajh.24722","article-title":"Targeted next Generation Sequencing and Identification of Risk Factors in World Health Organization Defined Atypical Chronic Myeloid Leukemia","volume":"92","author":"Patnaik","year":"2017","journal-title":"Am. J. Hematol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1182\/blood.2019004229","article-title":"Molecular Landscape and Clonal Architecture of Adult Myelodysplastic\/Myeloproliferative Neoplasms","volume":"136","author":"Palomo","year":"2020","journal-title":"Blood"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1182\/blood-2008-01-134858","article-title":"Epidemiology of Myelodysplastic Syndromes and Chronic Myeloproliferative Disorders in the United States, 2001\u20132004, Using Data from the NAACCR and SEER Programs","volume":"112","author":"Rollison","year":"2008","journal-title":"Blood"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1182\/blood-2017-04-736421","article-title":"How I Treat Chronic Myelomonocytic Leukemia","volume":"130","author":"Solary","year":"2017","journal-title":"Blood"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/ajh.25684","article-title":"Chronic Myelomonocytic Leukemia: 2020 Update on Diagnosis, Risk Stratification and Management","volume":"95","author":"Patnaik","year":"2020","journal-title":"Am. J. Hematol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1111\/j.1365-2141.1994.tb06734.x","article-title":"The Chronic Myeloid Leukaemias: Guidelines for Distinguishing Chronic Granulocytic, Atypical Chronic Myeloid, and Chronic Myelomonocytic Leukaemia. Proposals by the French-American-British Cooperative Leukaemia Group","volume":"87","author":"Bennett","year":"1994","journal-title":"Br. J. Haematol."},{"key":"ref_9","unstructured":"Jaffe, E.S., Harris, N.L., Stein, H., and Vardiman, J.W. (2001). World Health Organization Classification of Tumours, Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues, IARC Press."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"3005","DOI":"10.1182\/blood-2012-08-452938","article-title":"Development and Validation of a Prognostic Scoring System for Patients with Chronic Myelomonocytic Leukemia","volume":"121","author":"Such","year":"2013","journal-title":"Blood"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1016\/j.leukres.2014.09.003","article-title":"Refined Medullary Blast and White Blood Cell Count Based Classification of Chronic Myelomonocytic Leukemias","volume":"38","author":"Schuler","year":"2014","journal-title":"Leuk. Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1038\/leu.2008.119","article-title":"The Myelodysplastic\/Myeloproliferative Neoplasms: Myeloproliferative Diseases with Dysplastic Features","volume":"22","author":"Orazi","year":"2008","journal-title":"Leukemia"},{"key":"ref_13","first-page":"1566","article-title":"Identification of Risk Factors in Atypical Chronic Myeloid Leukemia","volume":"91","author":"Breccia","year":"2006","journal-title":"Haematologica"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1177\/2040620715607416","article-title":"Characteristics and Survival of BCR\/ABL Negative Chronic Myeloid Leukemia: A Retrospective Analysis of the Surveillance, Epidemiology and End Results Database","volume":"6","author":"Giri","year":"2015","journal-title":"Ther. Adv. Hematol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e125","DOI":"10.3324\/haematol.2014.119032","article-title":"Refractory Anemia with Ring Sideroblasts and Marked Thrombocytosis Cases Harbor Mutations in SF3B1 or Other Spliceosome Genes Accompanied by JAK2V617F and ASXL1 Mutations","volume":"100","author":"Jeromin","year":"2015","journal-title":"Haematologica"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.3324\/haematol.2011.053918","article-title":"Clinical Features and Course of Refractory Anemia with Ring Sideroblasts Associated with Marked Thrombocytosis","volume":"97","author":"Broseus","year":"2012","journal-title":"Haematologica"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1038\/sj.leu.2405054","article-title":"Prognostic Interaction between Thrombocytosis and JAK2 V617F Mutation in the WHO Subcategories of Myelodysplastic\/Myeloproliferative Disease-Unclassifiable and Refractory Anemia with Ringed Sideroblasts and Marked Thrombocytosis","volume":"22","author":"Atallah","year":"2008","journal-title":"Leukemia"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.leukres.2007.07.004","article-title":"Clinical and Prognostic Features of Patients with Myelodysplastic\/Myeloproliferative Syndrome Categorized as Unclassified (MDS\/MPD-U) by WHO Classification","volume":"32","author":"Cannella","year":"2008","journal-title":"Leuk. Res."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2645","DOI":"10.1182\/blood-2014-02-553800","article-title":"Atypical Chronic Myeloid Leukemia Is Clinically Distinct from Unclassifiable Myelodysplastic\/Myeloproliferative Neoplasms","volume":"123","author":"Wang","year":"2014","journal-title":"Blood"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/leu.2014.8","article-title":"Myelodysplastic\/Myeloproliferative Neoplasms, Unclassifiable (MDS\/MPN, U): Natural History and Clinical Outcome by Treatment Strategy","volume":"28","author":"DiNardo","year":"2014","journal-title":"Leukemia"},{"key":"ref_21","first-page":"3534","article-title":"Chronic Myelomonocytic Leukemia in Childhood: A Retrospective Analysis of 110 Cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS)","volume":"89","author":"Niemeyer","year":"1997","journal-title":"Blood"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1182\/blood-2018-11-844688","article-title":"Juvenile Myelomonocytic Leukemia: Who\u2019s the Driver at the Wheel?","volume":"133","author":"Niemeyer","year":"2019","journal-title":"Blood"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"375","DOI":"10.3324\/haematol.2010.030957","article-title":"Cytogenetic Risk Stratification in Chronic Myelomonocytic Leukemia","volume":"96","author":"Such","year":"2011","journal-title":"Haematologica"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1002\/ajh.23751","article-title":"Cytogenetic Risk Stratification of 417 Patients with Chronic Myelomonocytic Leukemia from a Single Institution: Cytogenetic Stratification in CMML Patients","volume":"89","author":"Tang","year":"2014","journal-title":"Am. J. Hematol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1002\/ajh.23846","article-title":"Molecular and Prognostic Correlates of Cytogenetic Abnormalities in Chronic Myelomonocytic Leukemia: A Mayo Clinic-French Consortium Study","volume":"89","author":"Wassie","year":"2014","journal-title":"Am. J. Hematol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/ajh.24332","article-title":"Predictors of Survival in Refractory Anemia with Ring Sideroblasts and Thrombocytosis (RARS-T) and the Role of next-Generation Sequencing: Predictors of Survival in Refractory Anemia with Ring Sideroblasts and Thrombocytosis","volume":"91","author":"Patnaik","year":"2016","journal-title":"Am. J. Hematol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1038\/s41375-019-0574-x","article-title":"Clinicopathologic Characteristics, Prognostication and Treatment Outcomes for Myelodysplastic\/Myeloproliferative Neoplasm, Unclassifiable (MDS\/MPN-U): Mayo Clinic-Moffitt Cancer Center Study of 135 Consecutive Patients","volume":"34","author":"Mangaonkar","year":"2020","journal-title":"Leukemia"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1002\/1097-0142(197210)30:4<889::AID-CNCR2820300405>3.0.CO;2-1","article-title":"Age-Associated Aneuploidy: Loss of Y Chromosome from Human Bone Marrow Cells with Aging","volume":"30","author":"Pierre","year":"1972","journal-title":"Cancer"},{"key":"ref_29","first-page":"1143","article-title":"Sex Chromosome Loss and Aging: In Situ Hybridization Studies on Human Interphase Nuclei","volume":"57","author":"Guttenbach","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1182\/blood-2016-05-714030","article-title":"Integrating Clinical Features and Genetic Lesions in the Risk Assessment of Patients with Chronic Myelomonocytic Leukemia","volume":"128","author":"Elena","year":"2016","journal-title":"Blood"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2206","DOI":"10.1038\/leu.2014.125","article-title":"ASXL1 and SETBP1 Mutations and Their Prognostic Contribution in Chronic Myelomonocytic Leukemia: A Two-Center Study of 466 Patients","volume":"28","author":"Patnaik","year":"2014","journal-title":"Leukemia"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1038\/s41375-019-0690-7","article-title":"Clinical, Molecular, and Prognostic Correlates of Number, Type, and Functional Localization of TET2 Mutations in Chronic Myelomonocytic Leukemia (CMML)-a Study of 1084 Patients","volume":"34","author":"Coltro","year":"2020","journal-title":"Leukemia"},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Palomo, L., Garcia, O., Arnan, M., Xicoy, B., Fuster, F., Cabez\u00f3n, M., Coll, R., Adem\u00e0, V., Grau, J., and Jim\u00e9nez, M.-J. (2016). Targeted Deep Sequencing Improves Outcome Stratification in Chronic Myelomonocytic Leukemia with Low Risk Cytogenetic Features. Oncotarget, 7.","DOI":"10.18632\/oncotarget.10937"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e385","DOI":"10.1038\/bcj.2015.113","article-title":"Prognostic Interaction between ASXL1 and TET2 Mutations in Chronic Myelomonocytic Leukemia","volume":"6","author":"Patnaik","year":"2016","journal-title":"Blood Cancer J."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1038\/leu.2013.133","article-title":"SETBP1 Mutations Occur in 9% of MDS\/MPN and in 4% of MPN Cases and Are Strongly Associated with Atypical CML, Monosomy 7, Isochromosome i(17)(Q10), ASXL1 and CBL Mutations","volume":"27","author":"Meggendorfer","year":"2013","journal-title":"Leukemia"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1038\/leu.2014.49","article-title":"Low Rate of Calreticulin Mutations in Refractory Anaemia with Ring Sideroblasts and Marked Thrombocytosis","volume":"28","author":"Lippert","year":"2014","journal-title":"Leukemia"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.1182\/blood-2018-05-848473","article-title":"Mutational Landscape of Myelodysplastic\/Myeloproliferative Neoplasm-Unclassifiable","volume":"132","author":"Bose","year":"2018","journal-title":"Blood"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2126","DOI":"10.1038\/s41467-017-02177-w","article-title":"RAS-Pathway Mutation Patterns Define Epigenetic Subclasses in Juvenile Myelomonocytic Leukemia","volume":"8","author":"Lipka","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/ng.2698","article-title":"Exome Sequencing Identifies Secondary Mutations of SETBP1 and JAK3 in Juvenile Myelomonocytic Leukemia","volume":"45","author":"Sakaguchi","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1182\/blood-2017-07-798157","article-title":"Integrated Molecular Profiling of Juvenile Myelomonocytic Leukemia","volume":"131","author":"Murakami","year":"2018","journal-title":"Blood"},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Gondek, L.P., Dunbar, A.J., Szpurka, H., McDevitt, M.A., and Maciejewski, J.P. (2007). SNP Array Karyotyping Allows for the Detection of Uniparental Disomy and Cryptic Chromosomal Abnormalities in MDS\/MPD-U and MPD. PLoS ONE, 2.","DOI":"10.1371\/journal.pone.0001225"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1182\/blood-2007-05-092304","article-title":"Chromosomal Lesions and Uniparental Disomy Detected by SNP Arrays in MDS, MDS\/MPD, and MDS-Derived AML","volume":"111","author":"Gondek","year":"2008","journal-title":"Blood"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"4552","DOI":"10.1182\/blood-2010-07-295857","article-title":"Prognostic Impact of SNP Array Karyotyping in Myelodysplastic Syndromes and Related Myeloid Malignancies","volume":"117","author":"Tiu","year":"2011","journal-title":"Blood"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"10349","DOI":"10.1158\/0008-5472.CAN-08-2754","article-title":"250K Single Nucleotide Polymorphism Array Karyotyping Identifies Acquired Uniparental Disomy and Homozygous Mutations, Including Novel Missense Substitutions of c-Cbl, in Myeloid Malignancies","volume":"68","author":"Dunbar","year":"2008","journal-title":"Cancer Res."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/ajh.24227","article-title":"Impact of SNP Array Karyotyping on the Diagnosis and the Outcome of Chronic Myelomonocytic Leukemia with Low Risk Cytogenetic Features or No Metaphases","volume":"91","author":"Palomo","year":"2016","journal-title":"Am. J. Hematol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1038\/leu.2016.158","article-title":"Aberrations Identified by Genomic Arrays in Normal Karyotype CMML Can Be Detected in 40% of Patients, but Do Not Add Prognostic Information to Molecular Mutations","volume":"30","author":"Vetro","year":"2016","journal-title":"Leukemia"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"6403","DOI":"10.1182\/blood-2009-02-205690","article-title":"Loss of Heterozygosity 4q24 and TET2 Mutations Associated with Myelodysplastic\/Myeloproliferative Neoplasms","volume":"113","author":"Jankowska","year":"2009","journal-title":"Blood"},{"key":"ref_48","first-page":"197","article-title":"Assessing Copy Number Aberrations and Copy Neutral Loss of Heterozygosity across the Genome as Best Practice: An Evidence Based Review of Clinical Utility from the Cancer Genomics Consortium (CGC) Working Group for Myelodysplastic Syndrome, Myelodysplastic\/Myeloproliferative and Myeloproliferative Neoplasms","volume":"228\u2013229","author":"Hodge","year":"2018","journal-title":"Cancer Genet."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Steensma, D.P., Bejar, R., Jaiswal, S., Lindsley, R.C., Sekeres, M.A., Hasserjian, R.P., and Ebert, B.L. (2015). Clonal Hematopoiesis of Indeterminate Potential and Its Distinction from Myelodysplastic Syndromes. Blood, 9\u201316.","DOI":"10.1182\/blood-2015-03-631747"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1182\/blood-2012-06-440347","article-title":"Clonal Architecture of Chronic Myelomonocytic Leukemias","volume":"121","author":"Itzykson","year":"2013","journal-title":"Blood"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1158\/1078-0432.CCR-09-2112","article-title":"RAS Mutations Contribute to Evolution of Chronic Myelomonocytic Leukemia to the Proliferative Variant","volume":"16","author":"Ricci","year":"2010","journal-title":"Clin. Cancer Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/leu.2015.337","article-title":"Age-Related Mutations and Chronic Myelomonocytic Leukemia","volume":"30","author":"Mason","year":"2016","journal-title":"Leukemia"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1182\/bloodadvances.2018024216","article-title":"Invariant Phenotype and Molecular Association of Biallelic TET2 Mutant Myeloid Neoplasia","volume":"3","author":"Awada","year":"2019","journal-title":"Blood Adv."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"2815","DOI":"10.1038\/leu.2017.164","article-title":"Genomic Determinants of Chronic Myelomonocytic Leukemia","volume":"31","author":"Patel","year":"2017","journal-title":"Leukemia"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/nrc3343","article-title":"The Role of Mutations in Epigenetic Regulators in Myeloid Malignancies","volume":"12","author":"Shih","year":"2012","journal-title":"Nat. Rev. Cancer"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"2488","DOI":"10.1056\/NEJMoa1408617","article-title":"Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes","volume":"371","author":"Jaiswal","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ccr.2011.06.001","article-title":"Tet2 Loss Leads to Increased Hematopoietic Stem Cell Self-Renewal and Myeloid Transformation","volume":"20","author":"Reavie","year":"2011","journal-title":"Cancer Cell"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/nature09586","article-title":"Impaired Hydroxylation of 5-Methylcytosine in Myeloid Cancers with Mutant TET2","volume":"468","author":"Ko","year":"2010","journal-title":"Nature"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"2289","DOI":"10.1056\/NEJMoa0810069","article-title":"Mutation in TET2 in Myeloid Cancers","volume":"360","author":"Delhommeau","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1038\/leu.2013.35","article-title":"SETBP1 Mutations in 658 Patients with Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia and Secondary Acute Myeloid Leukemias","volume":"27","author":"Damm","year":"2013","journal-title":"Leukemia"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1038\/leu.2011.44","article-title":"Recurrent DNMT3A Mutations in Patients with Myelodysplastic Syndromes","volume":"25","author":"Walter","year":"2011","journal-title":"Leukemia"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1182\/blood-2017-04-777029","article-title":"DNMT3A and TET2 Dominate Clonal Hematopoiesis and Demonstrate Benign Phenotypes and Different Genetic Predispositions","volume":"130","author":"Buscarlet","year":"2017","journal-title":"Blood"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"4086","DOI":"10.1182\/blood-2013-02-483487","article-title":"A DNMT3A Mutation Common in AML Exhibits Dominant-Negative Effects in Murine ES Cells","volume":"122","author":"Kim","year":"2013","journal-title":"Blood"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1080\/10428194.2016.1246725","article-title":"Negative Impact on Clinical Outcome of the Mutational Co-Occurrence of SF3B1 and DNMT3A in Refractory Anemia with Ring Sideroblasts (RARS)","volume":"58","author":"Such","year":"2017","journal-title":"Leuk Lymphoma"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1756-8722-5-12","article-title":"Mutations in ASXL1 Are Associated with Poor Prognosis across the Spectrum of Malignant Myeloid Diseases","volume":"5","author":"Brecqueville","year":"2012","journal-title":"J. Hematol. Oncol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.ccr.2012.06.032","article-title":"ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression","volume":"22","author":"Adli","year":"2012","journal-title":"Cancer Cell"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1038\/ng.621","article-title":"Inactivating Mutations of the Histone Methyltransferase Gene EZH2 in Myeloid Disorders","volume":"42","author":"Ernst","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"6109","DOI":"10.1182\/blood-2011-12-397620","article-title":"Loss of Heterozygosity in 7q Myeloid Disorders: Clinical Associations and Genomic Pathogenesis","volume":"119","author":"Jerez","year":"2012","journal-title":"Blood"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/nature10496","article-title":"Frequent Pathway Mutations of Splicing Machinery in Myelodysplasia","volume":"478","author":"Yoshida","year":"2011","journal-title":"Nature"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"3203","DOI":"10.1182\/blood-2011-12-399774","article-title":"Mutations in the Spliceosome Machinery, a Novel and Ubiquitous Pathway in Leukemogenesis","volume":"119","author":"Makishima","year":"2012","journal-title":"Blood"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/j.ccell.2015.04.006","article-title":"SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition","volume":"27","author":"Kim","year":"2015","journal-title":"Cancer Cell"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.ccell.2016.08.006","article-title":"Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation","volume":"30","author":"Obeng","year":"2016","journal-title":"Cancer Cell"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1056\/NEJMoa1103283","article-title":"Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts","volume":"365","author":"Papaemmanuil","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1038\/leu.2013.120","article-title":"Age, JAK2(V617F) and SF3B1 Mutations Are the Main Predicting Factors for Survival in Refractory Anaemia with Ring Sideroblasts and Marked Thrombocytosis","volume":"27","author":"Alpermann","year":"2013","journal-title":"Leukemia"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"6042","DOI":"10.1038\/ncomms7042","article-title":"Aberrant Splicing of U12-Type Introns Is the Hallmark of ZRSR2 Mutant Myelodysplastic Syndrome","volume":"6","author":"Madan","year":"2015","journal-title":"Nat. Commun"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.ccell.2015.04.008","article-title":"Mutant U2AF1 Expression Alters Hematopoiesis and Pre-MRNA Splicing In Vivo","volume":"27","author":"Shirai","year":"2015","journal-title":"Cancer Cell"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"4021","DOI":"10.1182\/blood-2013-09-381665","article-title":"The Genetic Basis of Myelodysplasia and Its Clinical Relevance","volume":"122","author":"Cazzola","year":"2013","journal-title":"Blood"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1038\/ng.2731","article-title":"Recurrent Mutations in Multiple Components of the Cohesin Complex in Myeloid Neoplasms","volume":"45","author":"Kon","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/ng.2495","article-title":"Recurrent SETBP1 Mutations in Atypical Chronic Myeloid Leukemia","volume":"45","author":"Piazza","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/ng.2696","article-title":"Somatic SETBP1 Mutations in Myeloid Malignancies","volume":"45","author":"Makishima","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/ajh.23611","article-title":"Clinical Implications of the SETBP1 Mutation in Patients with Primary Myelodysplastic Syndrome and Its Stability during Disease Progression","volume":"89","author":"Hou","year":"2014","journal-title":"Am. J. Hematol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/bjh.13355","article-title":"Correlation of Myelodysplastic Syndromes with i(17)(Q10) and TP53 and SETBP1 Mutations","volume":"171","author":"Adema","year":"2015","journal-title":"Br. J. Haematol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/ajh.24939","article-title":"Therapy Related-Chronic Myelomonocytic Leukemia (CMML): Molecular, Cytogenetic, and Clinical Distinctions from de Novo CMML","volume":"93","author":"Patnaik","year":"2018","journal-title":"Am. J. Hematol"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1056\/NEJMoa1013343","article-title":"Clinical Effect of Point Mutations in Myelodysplastic Syndromes","volume":"364","author":"Bejar","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1038\/s41591-020-1008-z","article-title":"Implications of TP53 Allelic State for Genome Stability, Clinical Presentation and Outcomes in Myelodysplastic Syndromes","volume":"26","author":"Bernard","year":"2020","journal-title":"Nat. Med."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1002\/cncr.20440","article-title":"Internal Tandem Duplication of Fms-like Tyrosine Kinase 3 Is Associated with Poor Outcome in Patients with Myelodysplastic Syndrome","volume":"101","author":"Shih","year":"2004","journal-title":"Cancer"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"E614","DOI":"10.1002\/ajh.24861","article-title":"Nucleophosmin 1 (NPM1) Mutations in Chronic Myelomonocytic Leukemia and Their Prognostic Relevance","volume":"92","author":"Vallapureddy","year":"2017","journal-title":"Am. J. Hematol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"10767","DOI":"10.1038\/ncomms10767","article-title":"Mutation Allele Burden Remains Unchanged in Chronic Myelomonocytic Leukaemia Responding to Hypomethylating Agents","volume":"7","author":"Merlevede","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1182\/blood-2013-05-500959","article-title":"The New Genetics of Chronic Neutrophilic Leukemia and Atypical CML: Implications for Diagnosis and Treatment","volume":"122","author":"Gotlib","year":"2013","journal-title":"Blood"},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Cris\u00e0, E., Nicolosi, M., Ferri, V., Favini, C., Gaidano, G., and Patriarca, A. (2020). Atypical Chronic Myeloid Leukemia: Where Are We Now?. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21186862"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"2273","DOI":"10.1038\/leu.2016.216","article-title":"Vascular Events and Risk Factors for Thrombosis in Refractory Anemia with Ring Sideroblasts and Thrombocytosis","volume":"30","author":"Patnaik","year":"2016","journal-title":"Leukemia"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"5285","DOI":"10.1182\/bloodadvances.2020002206","article-title":"Oligomonocytic and Overt Chronic Myelomonocytic Leukemia Show Similar Clinical, Genomic, and Immunophenotypic Features","volume":"4","author":"Calvo","year":"2020","journal-title":"Blood Adv."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"4315","DOI":"10.1093\/hmg\/ddu148","article-title":"Activating Mutations in RRAS Underlie a Phenotype within the RASopathy Spectrum and Contribute to Leukaemogenesis","volume":"23","author":"Flex","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1182\/asheducation-2018.1.307","article-title":"JMML Genomics and Decisions","volume":"2018","author":"Niemeyer","year":"2018","journal-title":"Hematology"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1038\/ng.3400","article-title":"The Genomic Landscape of Juvenile Myelomonocytic Leukemia","volume":"47","author":"Stieglitz","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/j.1365-2141.2010.08196.x","article-title":"Spectrum of Molecular Defects in Juvenile Myelomonocytic Leukaemia Includes ASXL1 Mutations","volume":"150","author":"Sugimoto","year":"2010","journal-title":"Br. J. Haematol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1038\/ng.3420","article-title":"Juvenile Myelomonocytic Leukemia Displays Mutations in Components of the RAS Pathway and the PRC2 Network","volume":"47","author":"Caye","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"28914","DOI":"10.18632\/oncotarget.8016","article-title":"Mutations of SETBP1 and JAK3 in Juvenile Myelomonocytic Leukemia: A Report from the Italian AIEOP Study Group","volume":"7","author":"Bresolin","year":"2016","journal-title":"Oncotarget"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1182\/blood-2014-09-601690","article-title":"Subclonal Mutations in SETBP1 Confer a Poor Prognosis in Juvenile Myelomonocytic Leukemia","volume":"125","author":"Stieglitz","year":"2015","journal-title":"Blood"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1038\/s41467-017-02178-9","article-title":"Genome-Wide DNA Methylation Is Predictive of Outcome in Juvenile Myelomonocytic Leukemia","volume":"8","author":"Stieglitz","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1111\/ejh.12223","article-title":"Postallogeneic Monitoring with Molecular Markers Detected by Pretransplant Next-Generation or Sanger Sequencing Predicts Clinical Relapse in Patients with Myelodysplastic\/Myeloproliferative Neoplasms","volume":"92","author":"Fu","year":"2014","journal-title":"Eur. J. Haematol."},{"key":"ref_102","doi-asserted-by":"crossref","unstructured":"Carbonell, D., Su\u00e1rez-Gonz\u00e1lez, J., Chicano, M., Andr\u00e9s-Zayas, C., Trivi\u00f1o, J.C., Rodr\u00edguez-Mac\u00edas, G., Bastos-Oreiro, M., Font, P., Ballesteros, M., and Mu\u00f1iz, P. (2019). Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms. Cancers, 11.","DOI":"10.3390\/cancers11091364"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"701","DOI":"10.3324\/haematol.2019.242677","article-title":"Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study","volume":"106","author":"Vantyghem","year":"2021","journal-title":"Haematologica"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"2249","DOI":"10.1182\/blood.2020005488","article-title":"Machine Learning Demonstrates That Somatic Mutations Imprint Invariant Morphologic Features in Myelodysplastic Syndromes","volume":"136","author":"Nagata","year":"2020","journal-title":"Blood"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1182\/blood.2020008742","article-title":"Human and Artificial Intelligence to Illuminate MDS","volume":"136","author":"Haferlach","year":"2020","journal-title":"Blood"},{"key":"ref_106","unstructured":"Walter, W., Pfarr, N., Meggendorfer, M., Jost, P., Haferlach, T., and Weichert, W. (2020). Next-generation diagnostics for precision oncology: Preanalytical considerations, technical challenges, and available technologies. Semin. Cancer Biol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/s41408-020-00387-y","article-title":"Prognostic impact and timing considerations for allogeneic hematopoietic stem cell transplantation in chronic myelomonocytic leukemia","volume":"10","author":"Pophali","year":"2020","journal-title":"Blood Cancer J."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1080\/10428194.2017.1357179","article-title":"Myelodysplastic and myeloproliferative neoplasms: Updates on the overlap syndromes","volume":"59","author":"Thota","year":"2018","journal-title":"Leuk. Lymphoma"}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/13\/9\/2120\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:53:31Z","timestamp":1760162011000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/13\/9\/2120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,27]]},"references-count":108,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,5]]}},"alternative-id":["cancers13092120"],"URL":"https:\/\/doi.org\/10.3390\/cancers13092120","relation":{},"ISSN":["2072-6694"],"issn-type":[{"value":"2072-6694","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,27]]}}}