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Expert Rev Hematol. 2014 Apr;7(2):255-64. doi: 10.1586/17474086.2014.876898. Epub 2014 Feb 13.

Cooperation between pathologists and clinicians allows a better diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms.

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Department of Pathophysiology and Transplantation, Division of Pathology, Hematopathology Service, University of Milan Medical School, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Via Francesco Sforza 35, 20122 Milano, Italy.


As no specific genetic lesions have yet been identified, the diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms is based on a simultaneous evaluation of the clinical, morphological and molecular features defined by the updated WHO classification, which allow most cases of full-blown disease to be classified. Nevertheless, about 10-15% of the patients have unclassifiable myeloproliferative neoplasms, most of whom are in the prodromal (early) phase of disease and identified by the presence of the JAK2 mutation, but lack the complete phenotype required by the WHO classification. The detection of these prodromal phases is extremely important in order to prevent dramatic thrombo-hemorrhagic complications and improve prognosis.

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