Evidence map›Paper›PMID 33507703›Full record

ArticleAsian Pacific journal of cancer prevention : APJCP2021

Two Novel Mutations of the NPM1 Gene in Syrian Adult Patients with Acute Myeloid Leukemia and Normal Karyotype.

Ismael F Alarbeed, Abdulsamad Wafa, Faten Moassass, Bassel Al-Halabi, Walid Alachkar, Imad Aboukhamis

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Asian Pacific journal of cancer prevention : APJCP, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 39% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Ismael F AlarbeedDepartment of Microbiology, Hematology and Immunology, Faculty of Pharmacy, Damascus University, Ministry of High Education, Damascus, Syria.
Abdulsamad WafaDepartment of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Faten MoassassDepartment of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Bassel Al-HalabiDepartment of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Walid AlachkarDepartment of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Imad AboukhamisDepartment of Microbiology, Hematology and Immunology, Faculty of Pharmacy, Damascus University, Ministry of High Education, Damascus, Syria.
Atomic Energy Commission of Syria · SYDamascus University · SY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveSomatic mutations in exon 12 of the NPM1 gene is one of the most common genetic abnormalities in adult acute myeloid leukemia (AML), which is observed in 25-35% of AML patients and in 50-60% of patients with cytogenetically normal AML (CN-AML).

methodsWe performed Sanger sequencing of exon 12 of the NPM1 gene, on 44 CN-AML patients to characterize NPM1 status.

resultsIn this study, NPM1 mutations were identified in 10 (22.7%) of the 44 CN-AML patients. Among the 10 patients with NPM1 mutations, type A NPM1 mutations were identified in 8 (80%) patients, whereas non-A type NPM1 mutations were observed in 2 (20%) patients. Two non-A type NPM1 mutations were not previously reported: c.867-868InsCGGA and c.861-862InsTGCA. These two novel mutant proteins display a nuclear export signal (NES) motif (L-xxx-L-xx-V-x-L) less frequently and L-x-Lx-V-xx-V-x-L it has been never seen before, yet. However, both novel mutations show a tryptophan loss at codon 288 and 290 at the mutant C-terminus which are crucial for aberrant nuclear export of NPM into the cytoplasm.

conclusionsThis study suggests previously unreported NPM1 mutations may be non-rare and thus additional sequence analysis is needed along with conventional targeted mutational analysis to detect non type-A NPM1 mutations.

Indexed as

MutationAdolescentAdultAgedBiomarkers, TumorDNA Mutational AnalysisFemaleFollow-Up StudiesHumansKaryotypeLeukemia, Myeloid, AcuteMaleMiddle AgedNuclear ProteinsNucleophosminPrognosisBiomarkers, TumorNPM1 protein, humanNuclear ProteinsNucleophosminAcute myeloid leukemia (AML), normal karyotype, NPM1 gene mutationprognositic factor

Identifiers

PMID33507703
PMCPMC8184179
OpenAlexW3123676454

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.