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A germline exon12 mutation and a late somatic mutation in a patient with essential thrombocythemia.
Front Oncol
January 2024
Institute of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, China.
Background: It has been discovered that Janus kinase 2 () exon12 mutations lead to the polycythemia vera (PV) phenotype, while somatic mutations of calreticulin () are associated with essential thrombocythemia (ET) or primary myelofibrosis. In this article, we report a case of ET with coexistence of exon12 and mutations. The objective of this study was to elucidate the pathogenicity mechanism of a exon12 mutation (N533S) and the role of the coexistence of mutations on the hematological phenotype.
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Cancer Gene Ther
March 2024
Department of Biomedical Informatics, School of Life Sciences, Central South University, 410013, Changsha, Hunan, P. R. China.
Primary myelofibrosis (PMF) patients frequently have JAK2 (V617F), CALR (exon 9), or MPL (W515 or exon 10) strong driver gene mutation, which triggers abnormal activation of the JAK2-STATs signaling pathway that plays a complex role in the occurrence of PMF. However, about 10-15% of PMF patients have no above typical mutations in these strong driver genes, known as being "triple-negative", which are associated with poor prognosis. In this paper, we reported a unique secondary acute myeloid leukemia (sAML) case transformed from triple-negative PMF combined with lung cancer and erythroderma occurrence at the same time, which has not been reported so far.
View Article and Find Full Text PDFReply to "Noncanonical CALR variants".
Am J Clin Pathol
May 2024
Montefiore Medical Center, Bronx, NY, US.
Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.
Exp Hematol
January 2024
Department of Molecular Medicine, University of Pavia, Pavia, Italy; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. Electronic address:
Article Synopsis
- Hereditary thrombocytosis (HT) is a rare genetic disorder that has symptoms similar to essential thrombocythemia, a more common blood condition.
- A study of 933 patients with persistent high platelet counts found various mutations related to HT, including several in the MPL gene, which could be significant causes of the disorder.
- The research suggests screening triple-negative patients for specific MPL mutations and highlights the importance of accurate diagnosis to prevent unnecessary treatments.
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