The molecular genetics of myeloproliferative neoplasms

AE Marneth, A Mullally - Cold Spring …, 2020 - perspectivesinmedicine.cshlp.org
Activated JAK-STAT signaling is central to the pathogenesis of BCR-ABL-negative
myeloproliferative neoplasms (MPNs) and occurs as a result of MPN phenotypic driver …

[HTML][HTML] Clinical significance of DNA variants in chronic myeloid neoplasms: a report of the Association for Molecular Pathology

RF McClure, MD Ewalt, J Crow… - The Journal of Molecular …, 2018 - Elsevier
To address the clinical relevance of small DNA variants in chronic myeloid neoplasms
(CMNs), an Association for Molecular Pathology Working Group comprehensively reviewed …

[HTML][HTML] Molecular and genomic landscapes in secondary & therapy related acute myeloid leukemia

H Goel, E Rahul, I Gupta, A Chopra… - American journal of …, 2021 - ncbi.nlm.nih.gov
Acute myeloid leukemia (AML) is a complex, aggressive myeloid neoplasm characterized by
frequent somatic mutations that influence different functional categories' genes, resulting in …

The impact of epigenetic modifications in myeloid malignancies

D Venney, A Mohd-Sarip, KI Mills - International Journal of Molecular …, 2021 - mdpi.com
Myeloid malignancy is a broad term encapsulating myeloproliferative neoplasms (MPN),
myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). Initial studies into …

[HTML][HTML] Clonal hematopoietic mutations linked to platelet traits and the risk of thrombosis or bleeding

A Veninga, I De Simone, JWM Heemskerk… - …, 2020 - ncbi.nlm.nih.gov
Platelets are key elements in thrombosis, particularly in atherosclerosis-associated arterial
thrombosis (atherothrombosis), and hemostasis. Megakaryocytes in the bone marrow …

The genetics of myelodysplastic syndromes and the opportunities for tailored treatments

CN Kontandreopoulou, K Kalopisis, NA Viniou… - Frontiers in …, 2022 - frontiersin.org
Genomic instability, microenvironmental aberrations, and somatic mutations contribute to the
phenotype of myelodysplastic syndrome and the risk for transformation to AML. Genes …

Genetic landscape of myeloproliferative neoplasms with an emphasis on molecular diagnostic laboratory testing

A Easwar, AJ Siddon - Life, 2021 - mdpi.com
Chronic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell neoplasms with
driver events including the BCR-ABL1 translocation leading to a diagnosis of chronic …

Digital-droplet PCR assays for IDH, DNMT3A and driver mutations to monitor after allogeneic stem cell transplantation minimal residual disease of myelofibrosis

D Mannina, A Badbaran, C Wolschke… - Bone Marrow …, 2022 - nature.com
Primary myelofibrosis (PMF), post-essential thrombocytemia and post-polycytemia vera
myelofibrosis (pET/pPV-MF) are potentially curable with allogeneic stem cell transplantation …

[HTML][HTML] Isocitrate dehydrogenase mutations in human cancers: physiopathologic mechanisms and therapeutic targeting

E Pelosi, G Castelli, U Testa - Journal of Exploratory Research …, 2016 - xiahepublishing.com
Isocitrate dehydrogenase (IDH) is a metabolic enzyme responsible for the enzymatic
conversion of isocitrate to α-ketoglutarate (α-KG). Mutations in the IDH gene result in a novel …

Genetic alterations crossing the borders of distinct hematopoetic lineages and solid tumors: Diagnostic challenges in the era of high-throughput sequencing in hemato …

E Shumilov, J Flach, T Pabst, M Fiedler… - Critical reviews in …, 2018 - Elsevier
Owing to the introduction of next-generation sequencing (NGS) new challenges for
diagnostic algorithms and the interpretation of the results for therapeutic decision making in …