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One of the most frequent chromosomal changes in AML is a mutation in the nucleophosmin (NPM1) gene. In newly diagnosed AML, it is discovered in 20–30% of cases, and in 50% of cases where the karyotype is normal [1,5,6]. NPM1 is a chaperone protein that performs a variety of tasks while moving back and forth between the cytoplasm and nucleus.
In about 30% of instances of adult acute myeloid leukemia (AML), the gene NPM1 is altered. Before next-generation sequencing, NPM1 mutations were first discovered by immunohistochemistry (IHC), which is the most distinctive characteristic of NPM1 mutants. 3 This finding was made possible by their abnormal cytoplasmic distribution (NGS)
The FLT3 gene mutation is the most prevalent genetic change and a poor prognostic factor in AML patients, which is a significant clinical point. In about 30% of all cases of AML, the FLT3 gene is mutated.
AML that has the NPM1 mutation has a good prognosis. About 40% of patients survived overall, and 80% of patients experienced complete remission (CR) (16). However, about 50% of patients will eventually experience a recurrence.
90% of NPM1 mutations fall into one of three categories (A, B, or D), with the type A mutation (c. 860 863dupTCTG) accounting for 70–80% of instances and types B and D (c. 863 864insCATG and c. 863 864insCCTG, respectively) accounting for the remaining 15-20%.
Acute myeloblastic leukemia type M1 has very little maturation. M2 stands for maturing acute myeloblastic leukemia. M3: severe
One of the most frequent chromosomal changes in AML is a mutation in the nucleophosmin (NPM1) gene. In newly diagnosed AML, it is discovered in 20–30% of cases, and in 50% of cases where the karyotype is normal [1,5,6]. A chaperone protein called NPM1 that shuttles between the nucleus and cytoplasm serve a variety of purposes.
mutations in the signaling and kinase pathways (eg, FLT3, KRAS, NRAS, PTPN11, NF1, and KIT) The most prevalent mutational subset in AML is type 1 mutations, which are present in about two-thirds of patients and result in abnormal activation and proliferation of cellular signaling pathways.
For risk assessment and prognostication in some AML patients, as well as potential therapy decisions, a thorough examination of various molecular markers, such as FLT3, NPM1, CEBPA, KIT, IDH1, and IDH2, is essential.
Test Type | AML - Nucleophosmin (NPM1 ) Gene Mutation |
Includes | AML - Nucleophosmin (NPM1 ) Gene Mutation (Pathology Test) |
Preparation | |
Reporting | Within 24 hours* |
Test Price |
₹ 3300
|
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