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[Analysis of Genes Related to Platelet Activation in Essential Thrombocythemia Based on Transcriptomics].

Zhongguo Shi Yan Xue Ye Xue Za Zhi

December 2024

Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing 100091, China.

Objective: To analyze the genes related to platelet activation in essential thrombocythemia (ET) based on transcriptome sequencing technology (RNA-seq), and to explore the potential targets related to ET thrombosis.

Methods: Blood samples from ET patients and healthy individuals were collected for RNA-seq, and differentially expressed lncRNAs, miRNAs, and mRNAs were selected to construct a lncRNA-miRNA-mRNA regulatory network. Differential mRNAs in the regulatory network were enriched and analyzed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG).

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The subjectivity of morphological assessment and the overlapping pathological features of different subtypes of myeloproliferative neoplasms (MPNs) make accurate diagnosis challenging. To improve the pathological assessment of MPNs, we developed a diagnosis model (fusion model) based on the combination of bone marrow whole-slide images (deep learning [DL] model) and clinical parameters (clinical model). Thousand and fifty-one MPN and non-MPN patients were divided into the training, internal testing and one internal and two external validation cohorts (the combined validation cohort).

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Myeloproliferative neoplasms, polycythemia vera, essential thrombocytosis, and primary myelofibrosis are a unique group of clonal hematopoietic stem cell neoplasms that share somatic, gain-in-function driver mutations in 2, , and . As a consequence, these disorders exhibit similar phenotypic features, the most common of which are the ceaseless production of normal erythrocytes, myeloid cells, platelets alone or in combination, extramedullary hematopoiesis, myelofibrosis, and a potential for leukemic transformation. In the case of polycythemia vera and essential thrombocytosis, however, prolonged survival is possible.

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Article Synopsis
  • The study conducted an umbrella review to evaluate the reliability of the link between pre-treatment thrombocytosis (high platelet count) and cancer survival outcomes, amidst debates over existing evidence.
  • It analyzed 21 unique meta-analyses across ten cancer types, finding that most showed a significant association between thrombocytosis and poorer survival rates in cancer patients.
  • Although the evidence was mostly classified as highly suggestive for certain cancer types, no meta-analysis achieved a high quality rating, indicating more research is needed for stronger conclusions.
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Article Synopsis
  • The V617F mutation is linked to clonal hemopoiesis and faster progression of cardiovascular diseases, but its relationship with coronary artery atherosclerosis is not well understood.
  • A study followed 36 patients with essential thrombocythemia (ET) and 38 healthy controls over four years to assess mutation burden and coronary calcium levels.
  • While the overall mutation burden decreased, an increase in mutation burden correlated with a rise in coronary calcium scores, suggesting the mutation may contribute to atherosclerosis as a non-classical cardiovascular risk factor.
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