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Because cythemias are nonspecific and may reflect either a reactive or neoplastic process, diagnostic workup of these patients is complicated and requires integration of numerous diagnostic modalities. Careful morphologic evaluation of the <jats:styled-content style=\"fixed-case\">PB<\/jats:styled-content> smear may provide insights into the underlying cause of the abnormal counts (such as the presence of teardrop erythrocytes in myelofibrosis or granulocytic dysplasia with left shift in atypical chronic myeloid leukemia). However, these morphologic findings need to be interpreted in concert with clinical findings and other laboratory results. In recent years, there has been a wealth of new genetic data in the field of <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> and many recurrent mutations have been identified, especially in cases lacking Philadelphia chromosome. Many of these genes impact the diagnosis and\/or prognosis. Although certain mutations are preferentially enriched in specific <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> types, none of these mutations are disease defining; therefore, a thorough workup should always include a bone marrow biopsy for morphologic evaluation and diagnosis. This review will describe a comprehensive approach to the diagnosis of various <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>, with an emphasis on the diagnostic and prognostic implications of recurrent mutations in <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/ijlh.13005","type":"journal-article","created":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T05:29:15Z","timestamp":1557379755000},"page":"142-150","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Myeloproliferative neoplasms: Diagnostic workup of the cythemic patient"],"prefix":"10.1111","volume":"41","author":[{"given":"Waihay J","family":"Wong","sequence":"first","affiliation":[{"name":"Department of Pathology Harvard Medical School Brigham and Women's Hospital  Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8376-0344","authenticated-orcid":false,"given":"Olga","family":"Pozdnyakova","sequence":"additional","affiliation":[{"name":"Department of Pathology Harvard Medical School Brigham and Women's Hospital  Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)71142-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03546"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2005.03.023"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa051113"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-02-554634"},{"key":"e_1_2_8_7_1","volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid 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