title: [Current problems in the diagnosis of Philadelphia-negative myeloproliferative neoplasms in Japan].
abstract: To investigate the current situation and issues regarding the diagnosis of Philadelphia-negative myeloproliferative neoplasms (MPN) in Japan, we retrospectively analyzed an accumulated cohort consisting of 1,081 patients with suspected MPN. Based on WHO2008 diagnostic criteria, we diagnosed 101 of these patients with polycythemia vera, 179 with essential thrombocythemia, 36 with primary myelofibrosis, 45 with unclassifiable MPN, and 4 with myelodysplastic syndromes. Out of 716 patients, 235 were not diagnosed with MPN despite the detection of a JAK2, CALR, or MPL mutation. Among 156 patients with undefined MPN receiving further follow-up, none underwent bone marrow examination and screening for BCR-ABL1 was not performed in 88 cases. Thus, diagnosis was not possible in these cases due to a lack of essential examinations. Since the prognosis and treatment strategy associated with MPN differ among disease types, in addition to mutation analysis, the importance of bone marrow examination and screening for BCR-ABL1 must be re-recognized.
authors.affiliation: Department of Hematology, Juntendo University Graduate School of Medicine.
authors.forename: Shuichi
authors.initials: S
authors.lastname: Shirane
authors.forename: Marito
authors.initials: M
authors.lastname: Araki
authors.forename: Soji
authors.initials: S
authors.lastname: Morishita
authors.forename: Yoko
authors.initials: Y
authors.lastname: Edahiro
authors.forename: Akimichi
authors.initials: A
authors.lastname: Ohsaka
authors.forename: Norio
authors.initials: N
authors.lastname: Komatsu
mesh_terms: D037282:Calreticulin / Q000235:genetics; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D007564:Japan; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053628:Receptors, Thrombopoietin / Q000235:genetics
chemical_list: D037282:Calreticulin; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2