Which chromosome is RUNX1 on?
In humans, the gene RUNX1 is 260 kilobases (kb) in length, and is located on chromosome 21 (21q22. 12). The gene can be transcribed from 2 alternative promoters, promoter 1 (distal) or promoter 2 (proximal).
Is RUNX1 an oncogene?
Although further investigations using animal models are necessary, RUNX1 possibly serves as a tumor suppressor in the context of ETP ALL, similar to that reported in AML, while it serves as an oncogenic collaborator in “typical” non-ETP T-ALL cases, which are driven by TAL1 and NOTCH1.
What is CBFB MYH11?
CBFB–MYH11 rearrangement is a typical class II mutation leading to inhibition of the CBF transcription factor complex, thereby blocking early myeloid differentiation. Class I mutations such as KIT and NRAS mutations in addition to CBFB–MYH11 rearrangement have been reported by Bullinger et al.
Is leukemia a platelet disorder?
Abstract. Familial platelet disorder with propensity to acute myelogenous leukemia, or FPD/AML (OMIM #601399), is a rare autosomal dominant condition, with only 12 families reported. It is characterized by qualitative and quantitative platelet defects and predisposition to the development of myeloid malignancies.
What does RUNX stand for?
Runx-1 acts by binding to regulatory sequences — specific sequences of DNA close to the genes they regulate. These DNA sequences, called Runx-1 binding sites, are scattered throughout the human genome, wherever there is a gene under the control of Runx-1. Runx-1 stands for runt-related transcription factor 1.
What is NPM1 in AML?
The nucleophosmin (NPM1) gene encodes for a ubiquitous multifunctional shuttling protein1 with predominant nucleolar localization. NPM1 is the most commonly mutated gene in adult acute myeloid leukemia (AML; ∼30% of cases).
WHO AML classification?
In the revised 4th edition of the WHO classification published in 2017 [3], AML is classified into 6 categories: AML with recurrent genetic abnormalities; AML with myelodysplasia-related changes (MRC); therapy-related myeloid neoplasms (t-MN); AML, not otherwise specified (NOS); myeloid sarcoma; and myeloid …