Puglianini Omar Castaneda, Peker Deniz, Zhang Linsheng, Papadantonakis Nikolaos
H. Lee Moffitt Cancer Center & Research Institute, Department of Blood & Marrow Transplant & Cellular Immunotherapy, Tampa, FL, USA.
Department of Oncologic Sciences, University of South Florida Morsani College of Medicine, Tampa, FL, USA.
Lab Med. 2023 Jan 5;54(1):13-22. doi: 10.1093/labmed/lmac074.
Although several decades have passed since the description of myeloproliferative neoplasms (MPN), many aspects of their pathophysiology have not been elucidated. In this review, we discuss the mutational landscape of patients with essential thrombocythemia (ET), prognostic scores and salient pathology, and clinical points. We discuss also the diagnostic challenges of differentiating ET from prefibrotic MF. We then focus on post-essential thrombocythemia myelofibrosis (post-ET MF), a rare subset of MPN that is usually studied in conjunction with post-polycythemia vera MF. The transition of ET to post-ET MF is not well studied on a molecular level, and we present available data. Patients with secondary MF could benefit from allogenic hematopoietic stem cell transplantation, and we present available data focusing on post-ET MF.
尽管自骨髓增殖性肿瘤（MPN）被描述以来已经过去了几十年，但其病理生理学的许多方面仍未阐明。在本综述中，我们讨论了原发性血小板增多症（ET）患者的突变图谱、预后评分和显著病理学特征以及临床要点。我们还讨论了鉴别ET与纤维化前骨髓纤维化（MF）的诊断挑战。然后，我们重点关注原发性血小板增多症后骨髓纤维化（ET后MF），这是MPN的一个罕见亚型，通常与真性红细胞增多症后MF一起研究。ET向ET后MF的转变在分子水平上研究较少，我们展示了现有数据。继发性MF患者可从异基因造血干细胞移植中获益，我们展示了聚焦于ET后MF的现有数据。
