Blast Phase of Myeloproliferative Neoplasm Resembles Acute Myeloid Leukemia, Myelodysplasia-Related, in Clinical Presentation, Cytogenetic Pattern, and Genomic Profile, and Often Undergoes Reversion to Second Chronic Phase Status After Induction Chemotherapy.

Autor:	Zhao Y; From the Department of Pathology, College of Basic Medical Sciences and the First Hospital, China Medical University, Shenyang, China (Zhao).; the Department of Pathology, Duke University School of Medicine, Durham, North Carolina (Zhao, Wildes, Charles, Deak)., Siddiqi I; the Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles (Siddiqi, Wang)., Wildes TJ; the Department of Pathology, Duke University School of Medicine, Durham, North Carolina (Zhao, Wildes, Charles, Deak)., Charles D; the Department of Pathology, Duke University School of Medicine, Durham, North Carolina (Zhao, Wildes, Charles, Deak)., Deak K; the Department of Pathology, Duke University School of Medicine, Durham, North Carolina (Zhao, Wildes, Charles, Deak)., Wang E; the Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles (Siddiqi, Wang).
Jazyk:	angličtina
Zdroj:	Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2024 Dec 01; Vol. 148 (12), pp. 1310-1319.
DOI:	10.5858/arpa.2023-0363-OA
Abstrakt:	Context.—: BCR::ABL-negative myeloproliferative neoplasm (MPN) has a prolonged clinical course, and some cases eventually undergo transformation to blast phase; its pathogenesis remains to be elucidated. Objective.—: To evaluate the clinicopathologic characteristics of MPN in blast phase. Design.—: The study aimed to retrospectively analyze the clinical and laboratory data of 24 MPN cases. Results.—: Median latency to blast phase was 48 months (range, 7-384 months). Complex karyotypes were seen in 12 of the 24 cases (50%). Overall, 16 cases (66.7%) exhibited high allele burdens of MPN driver mutations along with increased blasts, consistent with linear clonal evolution, whereas the remainder (8; 33.3%) showed loss or partial loss of the driver mutation, suggestive of a parallel evolution. Additional mutations were noted in 23 cases (100%), including TP53 mutations in 10 of 24 cases (41.7%). Following chemotherapy, 15 of the 24 patients (62.5%) reverted to a second chronic phase while retaining or regaining MPN driver mutations and losing blast-related mutations, although 9 of the 15 patients (60%) later died of disease progression. Median overall survival was 10 months (CI, 4.6-15.4), with those harboring complex karyotypes demonstrating decreased survival (6 versus 29 months; P = .004). Conclusions.—: MPN blast phase resembles acute myeloid leukemia, myelodysplasia-related, in cytogenetic pattern, mutation profile, and clinical outcome. Two patterns of clonal evolution are inferred by dynamic analysis of mutation profiles: linear and parallel evolutions. Although overall survival was dismal, 62.5% of our cases achieved second chronic phase, and they showed better survival than those without second chronic phase. Competing Interests: The authors have no relevant financial interest in the products or companies described in this article. (© 2024 College of American Pathologists.)
Databáze:	MEDLINE
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