Dataset Information

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

ABSTRACT: Prefibrotic primary myelofibrosis (Pre-PMF) has been classified as a separate entity of myeloproliferative neoplasms (MPNs). Pre-PMF is clinically heterogeneous but a specific prognostic model is lacking. Gene mutations have emerged as useful tools for stratification of myelofibrosis patients. However, there have been limited studies comprehensively investigating the mutational spectrum and its clinicopathological significance in pre-PMF subjects. In this study, we addressed these issues by profiling the mutation status of 141 genes in 172 Chinese MPN patients including 72 pre-PMF cases. Our findings corroborated the clinical/molecular distinctiveness of pre-PMF and suggested a refined risk classification strategy for this entity.

SUBMITTER: Cheng CK

PROVIDER: S-EPMC9176118 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

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Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng Chi-Keung CK Lai Jennifer W Y JWY Yung Yuk-Lin YL Chan Hoi-Yun HY Wong Raymond S M RSM Chan Natalie P H NPH Cheung Joyce S JS Luo Xi X Pitts Herbert-Augustus HA Ng Margaret H L MHL

EJHaem 20211230 1

Prefibrotic primary myelofibrosis (Pre-PMF) has been classified as a separate entity of myeloproliferative neoplasms (MPNs). Pre-PMF is clinically heterogeneous but a specific prognostic model is lacking. Gene mutations have emerged as useful tools for stratification of myelofibrosis patients. However, there have been limited studies comprehensively investigating the mutational spectrum and its clinicopathological significance in pre-PMF subjects. In this study, we addressed these issues by prof ...[more]

PMID: 35846205

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Project description:Essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (pre-PMF) are Philadelphia chromosome-negative myeloproliferative neoplasms. These conditions share overlapping clinical presentations; however, their prognoses differ significantly. Current morphological diagnostic methods lack reliability in subtype differentiation, underlining the need for improved diagnostics. The aim of this study was to investigate the multi-omics alterations in bone marrow biopsies of patients with ET and pre-PMF to improve our understanding of the nuanced diagnostic characteristics of both diseases. We performed proteomic analysis with 4D direct data-independent acquisition and microbiome analysis with 2bRAD-M sequencing technology to identify differential protein and microbe levels between untreated patients with ET and pre-PMF. Laboratory and multi-omics differences were observed between ET and pre-PMF, encompassing diverse pathways, such as lipid metabolism and immune response. The pre-PMF group showed an increased neutrophil-to-lymphocyte ratio and decreased high-density lipoprotein and cholesterol levels. Protein analysis revealed significantly higher CXCR2, CXCR4, and MX1 levels in pre-PMF, while APOC3, APOA4, FABP4, C5, and CFB levels were elevated in ET, with diagnostic accuracy indicated by AUC values ranging from 0.786 to 0.881. Microbiome assessment identified increased levels of Mycobacterium, Xanthobacter, and L1I39 in pre-PMF, whereas Sphingomonas, Brevibacillus, and Pseudomonas_E were significantly decreased, with AUCs for these genera ranging from 0.833 to 0.929. Our study provides preliminary insights into the proteomic and microbiome variations in the bone marrow of patients with ET and pre-PMF, identifying specific proteins and bacterial genera that warrant further investigation as potential diagnostic indicators. These observations contribute to our evolving understanding of the multi-omics variations and possible mechanisms underlying ET and pre-PMF.

Dataset Information

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Publications

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Similar Datasets

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