Evidence map›Paper›PMID 35626091›Full record

ReviewCancers2022

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Oscar González-López, Javier I Muñoz-González, Alberto Orfao, Iván Álvarez-Twose, Andrés C García-Montero

Open access · goldAbstract readReview
In one paragraph

Review in Cancers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

9 citing papers in PubMed, 16 citations in OpenAlex.

  1. Management of skeletal-related events and fracture prevention in systemic mastocytosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026
    Review
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  8. Unraveling the Rare Entity ofJournal of hematology · 2024
    Article
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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

5 authors at 2 institutions in 1 country.

Oscar González-LópezCancer Research Center (IBMCC, USAL/CSIC), Department of Medicine, Universidad de Salamanca, Biomedical Research Institute of Salamanca and Spanish Network on Mastocytosis (REMA), 37007 Salamanca, Spain.ORCID 0000-0002-4169-4294
Javier I Muñoz-GonzálezCancer Research Center (IBMCC, USAL/CSIC), Department of Medicine, Universidad de Salamanca, Biomedical Research Institute of Salamanca and Spanish Network on Mastocytosis (REMA), 37007 Salamanca, Spain.
Alberto OrfaoCancer Research Center (IBMCC, USAL/CSIC), Department of Medicine, Universidad de Salamanca, Biomedical Research Institute of Salamanca and Spanish Network on Mastocytosis (REMA), 37007 Salamanca, Spain.ORCID 0000-0002-0007-7230
Iván Álvarez-TwoseCentro de Investigación Biomédica en Red Cáncer (CIBERONC), 28029 Madrid, Spain.
Andrés C García-MonteroCancer Research Center (IBMCC, USAL/CSIC), Department of Medicine, Universidad de Salamanca, Biomedical Research Institute of Salamanca and Spanish Network on Mastocytosis (REMA), 37007 Salamanca, Spain.ORCID 0000-0003-4360-1386
Universidad de Salamanca · ESHospital Virgen del Valle · ES

Funding

Centro de Investigación Biomédica en Red de Cáncer CB16/12/00400Instituto de Salud Carlos III FI20/00116Instituto de Salud Carlos III PI19/01166
6 · The paper itself

Abstract

Systemic mastocytosis (SM) is a rare clonal haematopoietic stem cell disease in which activating KIT mutations (most commonly KIT D816V) are present in virtually every (>90%) adult patient at similar frequencies among non-advanced and advanced forms of SM. The KIT D816V mutation is considered the most common pathogenic driver of SM. Acquisition of this mutation early during haematopoiesis may cause multilineage involvement of haematopoiesis by KIT D816V, which has been associated with higher tumour burden and additional mutations in other genes, leading to an increased rate of transformation to advanced SM. Thus, among other mutations, alterations in around 30 genes that are also frequently mutated in other myeloid neoplasms have been reported in SM cases. From these genes, 12 (i.e., ASXL1, CBL, DNMT3A, EZH2, JAK2, KRAS, NRAS, SF3B1, RUNX1, SF3B1, SRSF2, TET2) have been recurrently reported to be mutated in SM. Because of all the above, assessment of multilineage involvement of haematopoiesis by the KIT D816V mutation, in the setting of multi-mutated haematopoiesis as revealed by a limited panel of genes (i.e., ASXL1, CBL, DNMT3A, EZH2, NRAS, RUNX1 and SRSF2) and associated with a poorer patient outcome, has become of great help to identify SM patients at higher risk of disease progression and/or poor survival who could benefit from closer follow-up and eventually also early cytoreductive treatment.

Indexed as

ASXL1D816VDNMT3AEZH2KITmutationsprognosticRUNX1SRSF2systemic mastocytosis

Identifiers

PMID35626091
PMCPMC9139197
OpenAlexW4280511244

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.