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Acute myeloid leukemia with mutated NPM1

MedGen UID:
414842
•Concept ID:
C2826177
•
Neoplastic Process
Synonyms: acute myeloid leukaemia with cytoplasmic nucleophosmin; Acute Myeloid Leukemia with Cytoplasmic Nucleophosmin; acute myeloid leukemia with cytoplasmic nucleophosmin; Acute Myeloid Leukemia with Mutated NPM1; acute myeloid leukemia with mutated NPM1; Acute Myeloid Leukemia with NPM1 Mutation; acute myeloid leukemia, NPM1 gene mutation; AML with Mutated NPM1; AML with mutated NPM1; AML, Mutation of the Nucleophosmin Gene; AML, NPM1 gene mutation; AML, NPM1 Mutation; AML, Nucleophosmin Gene Mutation; NPMc+ AML
SNOMED CT: Acute myeloid leukemia with mutated NPM1 (703820005)
 
Monarch Initiative: MONDO:0044923

Definition

An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. [from NCI]

Professional guidelines

PubMed

Criteria for Diagnosis and Molecular Monitoring of NPM1-Mutated AML.
Falini B, Dillon R
Blood Cancer Discov 2024 Jan 8;5(1):8-20. doi: 10.1158/2643-3230.BCD-23-0144. PMID: 37917833Free PMC Article
Acute promyelocytic leukemia: Immunophenotype and differential diagnosis by flow cytometry.
Fang H, Wang SA, Hu S, Konoplev SN, Mo H, Liu W, Zuo Z, Xu J, Jorgensen JL, Yin CC, El Hussein S, Jelloul FZ, Tang Z, Medeiros LJ, Wang W
Cytometry B Clin Cytom 2022 Jul;102(4):283-291. Epub 2022 Jun 18 doi: 10.1002/cyto.b.22085. PMID: 35716019
Molecular patterns of response and treatment failure after frontline venetoclax combinations in older patients with AML.
DiNardo CD, Tiong IS, Quaglieri A, MacRaild S, Loghavi S, Brown FC, Thijssen R, Pomilio G, Ivey A, Salmon JM, Glytsou C, Fleming SA, Zhang Q, Ma H, Patel KP, Kornblau SM, Xu Z, Chua CC, Chen X, Blombery P, Flensburg C, Cummings N, Aifantis I, Kantarjian H, Huang DCS, Roberts AW, Majewski IJ, Konopleva M, Wei AH
Blood 2020 Mar 12;135(11):791-803. doi: 10.1182/blood.2019003988. PMID: 31932844Free PMC Article

Recent clinical studies

Diagnosis

Acute myeloid leukemia with mutated NPM1 mimics acute promyelocytic leukemia presentation.
Arana Rosainz MJ, Nguyen N, Wahed A, Lelenwa LC, Aakash N, Schaefer K, Rios A, Kanaan Z, Chen L
Int J Lab Hematol 2021 Apr;43(2):218-226. Epub 2020 Oct 25 doi: 10.1111/ijlh.13357. PMID: 33099879

Clinical prediction guides

Acute myeloid leukemia with mutated NPM1 mimics acute promyelocytic leukemia presentation.
Arana Rosainz MJ, Nguyen N, Wahed A, Lelenwa LC, Aakash N, Schaefer K, Rios A, Kanaan Z, Chen L
Int J Lab Hematol 2021 Apr;43(2):218-226. Epub 2020 Oct 25 doi: 10.1111/ijlh.13357. PMID: 33099879

Supplemental Content

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