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Clinical and molecular features of patients with prefibrotic primary myelofibrosis previously diagnosed as having essential thrombocythemia in Japan
Author(s) -
Edahiro Yoko,
Araki Marito,
Inano Tadaaki,
Ito Masafumi,
Morishita Soji,
Misawa Kyohei,
Fukuda Yasutaka,
Imai Misa,
Ohsaka Akimichi,
Komatsu Norio
Publication year - 2019
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.13236
Subject(s) - essential thrombocythemia , myelofibrosis , medicine , bone marrow , gastroenterology , platelet
Objective Prefibrotic/early primary myelofibrosis (pre‐PMF) and essential thrombocythemia (ET) exhibited different features of bone marrow; however, this is not always easy to judge objectively, making pathologists’ distinction often suboptimal. In the WHO 2008 criteria, pre‐PMF was not defined as a subgroup of PMF; therefore, affected patients were at a higher risk of misdiagnosis with ET. In this study, we examined the prevalence of pre‐PMF patients among those previously diagnosed with ET in Japan. Method We reviewed bone marrow specimens and clinical and molecular parameters of patients who were previously diagnosed with ET by the WHO 2008 criteria. Results Among 107 ET patients, 13 patients were redefined as having pre‐PMF. Pre‐PMF patients exhibited a higher frequency of MPL mutation and increased platelet counts compared to true ET patients. Molecular analysis revealed the frequencies of high‐risk molecular mutations, such as ASXL1 , EZH2 , and SRSF2 , were significantly increased in pre‐PMF patients than those in true ET patients. Conclusion These results demonstrated the value of reexamining clinical records for patients diagnosed with ET by the WHO 2008 criteria and emphasized that adequate examinations of patients’ bone marrow are crucial for an accurate diagnosis of pre‐PMF and ET.