Myeloproliferative Neoplasms‐Unclassifiable (MPN‐U): A Carefully Curated Series of 30 Mayo Clinic Patients

作者：Rania M Abdelaziz, Priyansh Faldu, Saubia Fathima, Cinthya J Zepeda Mendoza, Animesh Pardanani, Rong He, A. Orazi, Kaaren K. Reichard, N. Gangat, A. Tefferi · 发表于：American journal of hematology/oncology · 年份：2025 · DOI：10.1002/ajh.70085 · 被引用次数：2 · 研究领域：Medicine

Background Although myeloproliferative neoplasm-unclassifiable (MPN-U) stands as a distinct entity in the International Consensus Classification (ICC) for myeloproliferative neoplasms, its diagnosis and management remain challenging due to the overlapping clinico-pathological characteristics with other MPNs. In the current study, we describe a well-defined cohort of patients with MPN-U and compare their presentation and outcome with those of a separate cohort with essential thrombocythemia (ET). Methods Diagnostic criteria were according to the ICC (Blood 2022; 140:1200). Non-driver mutations were screened by next-generation sequencing (NGS) and were available for subsets of patients with MPN-U or ET. Conventional statistical methods were employed, using JMP Pro 18.0.0 software SAS Institute, Cary, NC, USA. Results Thirty Mayo Clinic patients who met the ICC criteria for MPN-U (median age 64 years; range 33-94; 60% males) and 658 with ET (median age 60 years; range 18-90; 36% males) were included in the current study. Table 1 outlines a comparative list of presenting characteristics (including mutations), clinical outcomes, and treatment details between patients with MPN-U vs. ET. JAK2 mutations were significantly more prevalent in MPN-U cohort (87% vs. 63% in ET; p<0.01) and CALR mutations less common (3% vs. 25%; p<0.01). Other somatic mutations, including ASXL1, SRSF2, and EZH2 were more frequently observed in the MPN-U group (p<0.05 in all). Abnormal karyotype was repor...