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. 2024 Nov 19;13(22):6957. doi: 10.3390/jcm13226957
ARCH Age-related clonal hematopoiesis is an accelerated version of CHIP, occurring after the age of 60 years.
ACVR1 Activin A Receptor Type 1, also known as ALK-2, is a member of the BMP/TGF-β receptor family.
CHIP Clonal hematopoiesis with an indeterminate potential is a syndrome characterized by the acquisition of gene mutations by hematopoietic stem cells (HSCs) as they age, with a MAB of ≥2%. Most of these mutations are not potentially deleterious, but a few are, including DNM3Ta, ASXL1, TP53, TET2, and JAK2 V617F.
Contiguous gene syndrome Contiguous gene syndrome (CGS) is a de novo or treatment-related genetic disorder in which chromosomal copy number changes involving multiple neighboring genes occur, causing del(5q) or –7/del(7q) or complex karyotypes with an adverse prognosis.
Erythremia An archaic term for polycythemia vera.
Genotype The genetic basis for phenotype.
Homologous recombination A mechanism for exchanging genes between similar DNA molecules.
Latency The time between a biologic change, such as the acquisition of a gene mutation, and the phenotypic expression of that mutation.
LOH Loss of heterozygosity occurs when a single allele or a larger segment of DNA is lost from a normal chromosome by one of several mechanisms, including gene mutation, deletion, or mitotic recombination, and most commonly in MPNs by uniparental disomy (UPD).
MAB Mutation allele burden, also known as the VAF, or variant allele fraction, is the percentage of chromosomes in a cell that carries a particular gene mutation. Either one allele (heterozygosity for the mutation) or both alleles of the gene (homozygosity for the mutation) can be involved.
Newtonian fluid A fluid whose shear stress from flow is linearly correlated with its rate of change in deformation over time.
Next-generation sequencing Massive, parallel DNA sequencing, also known as NGS, allows the interrogation of the human genome accurately and rapidly to detect gene mutations.
Nitric oxide scavenging When nitric oxide in the blood stream is bound by either free hemoglobin or red cells, vasoconstriction and increased platelet adherence to the vascular endothelium occur.
Non-Newtonian fluid The behavior of a fluid that deviates from Newton’s law of viscosity. As an example, blood is more viscous when flowing slowly than when it is flowing rapidly.
Pagophagia A form of Pica in which disordered gustatory behavior focuses on eating ice.
Phenotype The observable features of an individual.
Penetration The extent to which a genetic change is expressed.
Phenotypic mimicry When appearance is clinically deceiving, which is a particular problem with MPNs, where the same mutation causes two or three different disease phenotypes.
Reactive oxygen species Reactive oxygen species, such as superoxide, singlet oxygen, hydroperoxide, or hydroxyl radicals, are unstable and can damage DNA, RNA, or proteins.
Ribonucleotide reductase This enzyme catalyzes the reduction in ribonucleotides to deoxyribonucleotides for use in DNA synthesis. It is a target for hydroxyurea, which destroys its tyrosyl free radical.
JAK2 pseudokinase domain This is a region of the JAK2 protein that lacks the necessary residues to be a kinase, but can act as an inhibitor of the protein’s tyrosine kinase domain.
Uniparental disomy Acquired uniparental disomy (UPD), a common feature of PV, is a mitotic recombination resulting in an exchange of genes inherited from one parent on the same segment of one of two homologous chromosomes, causing the copy neutral loss of heterozygosity that is undetectable by cytogenetics.