{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T05:26:36Z","timestamp":1768973196305,"version":"3.49.0"},"reference-count":71,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T00:00:00Z","timestamp":1626652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Myelodysplastic\/myeloproliferative neoplasms (MDS\/MPN) are clonal myeloid malignancies that are characterized by dysplasia resulting in cytopenias as well as proliferative features such as thrombocytosis or splenomegaly. Recent studies have better defined the genetics underlying this diverse group of disorders. Trisomy 8, monosomy 7, and loss of Y chromosome are the most common cytogenetic abnormalities seen. Chronic myelomonocytic leukemia (CMML) likely develops from early clones with <jats:italic>TET2<\/jats:italic> mutations that drive granulomonocytic differentiation. Mutations in <jats:italic>SRSF2<\/jats:italic> are common and those in the RAS\u2010MAPK pathway are typically implicated in disease with a proliferative phenotype. Several prognostic systems have incorporated genetic features, with <jats:italic>ASXL1<\/jats:italic> most consistently demonstrating worse prognosis. Atypical chronic myeloid leukemia (aCML) is most known for granulocytosis with marked dysplasia and often harbors <jats:italic>ASXL1<\/jats:italic> mutations, but <jats:italic>SETBP1<\/jats:italic> and <jats:italic>ETNK1<\/jats:italic> are more specific to this disease. MDS\/MPN with ring sideroblasts and thrombocytosis (MDS\/MPN\u2010RS\u2010T) most commonly involves spliceosome mutations (namely <jats:italic>SF3B1<\/jats:italic>) and mutations in the JAK\u2010STAT pathway. Finally, MDS\/MPN\u2010unclassifiable (MDS\/MPN\u2010U) is least characterized but a significant fraction carries mutations in <jats:italic>TP53<\/jats:italic>. The remaining patients have clinical and\/or genetic features similar to the other MDS\/MPNs, suggesting there is room to better characterize this entity. Evolution from age\u2010related clonal hematopoiesis to MDS\/MPN likely depends on the order of mutation acquisition and interactions between various biologic factors. Genetics will continue to play a critical role in our understanding of these illnesses and advancing patient care.<\/jats:p>","DOI":"10.1002\/jha2.264","type":"journal-article","created":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T12:42:18Z","timestamp":1626698538000},"page":"607-615","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Examining disease boundaries: Genetics of myelodysplastic\/myeloproliferative neoplasms"],"prefix":"10.1002","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0594-154X","authenticated-orcid":false,"given":"Michael J.","family":"Hochman","sequence":"first","affiliation":[{"name":"Division of Hematological Malignancies and Bone Marrow Transplantation Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bipin N.","family":"Savani","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6854-773X","authenticated-orcid":false,"given":"Tania","family":"Jain","sequence":"additional","affiliation":[{"name":"Division of Hematological Malignancies and Bone Marrow Transplantation Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-019-0574-x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004229"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.183160"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11899-021-00632-6"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2016.05.013"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/10428194.2016.1243681"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-10-460170"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004352"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2012.47.3314"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.011205"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-09-2112"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24939"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09586"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2014.10.006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2020.12.002"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-06-440347"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.337"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2017.164"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0000000000000553"},{"issue":"22","key":"e_1_2_6_22_1","first-page":"5716","article-title":"SF3B1\u2010mutant CMML defines a predominantly dysplastic CMML subtype with a superior acute leukemia\u2010free survival","volume":"4","author":"Wudhikarn K","year":"2020","journal-title":"Blood Adv"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.030957"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-08-452938"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.125"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-05-714030"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-019-0690-7"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI78752"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2018.04.018"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-06-582809"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10767"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.218677"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2020003600"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V77.5.925.925"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13068"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3400"},{"issue":"10","key":"e_1_2_6_37_1","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\u2010MDS)","volume":"89","author":"Niemeyer CM","year":"1997","journal-title":"Blood"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008393002748"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2015.1.264"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-02-553800"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24722"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.133"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2495"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-06-579466"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-12-194548"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1214514"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.122"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.113159"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-06-227363"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.294"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mib.2005.02.012"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2009.02.005"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-19721-w"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2696"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.35"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24637"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2016.216"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.053918"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1177\/107602969900500301"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.119032"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1103283"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI125022"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2011.1.264"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2011.232"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24332"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.8"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-05-848473"},{"key":"e_1_2_6_68_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-04-1199"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2020007157"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17534"},{"key":"e_1_2_6_71_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.45"},{"key":"e_1_2_6_72_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.222059"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.264","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jha2.264","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.264","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:45:14Z","timestamp":1692751514000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,19]]},"references-count":71,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/jha2.264"],"URL":"https:\/\/doi.org\/10.1002\/jha2.264","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"value":"2688-6146","type":"print"},{"value":"2688-6146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,19]]},"assertion":[{"value":"2021-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}