Evidence map›Paper›PMID 30977107›Full record

ArticleInternational journal of hematology2019

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm.

Andrzej Szczepaniak, Marcin Machnicki, Michał Gniot, Monika Pępek, Małgorzata Rydzanicz, Rafał Płoski, Maciej Kaźmierczak, Tomasz Stokłosa, Krzysztof Lewandowski

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In one paragraph

Article in International journal of hematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.8field-weighted citation impact, top 26% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

9 authors at 2 institutions in 1 country.

Andrzej SzczepaniakDepartment of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, Greater Poland, 60-569, Poznan, Poland. ajjszczepaniak@gmail.com.ORCID http://orcid.org/0000-0002-1732-8964
Marcin MachnickiDepartment of Immunology, Medical University of Warsaw, 02-097, Warsaw, Poland.
Michał GniotDepartment of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, Greater Poland, 60-569, Poznan, Poland.
Monika PępekDepartment of Immunology, Medical University of Warsaw, 02-097, Warsaw, Poland.
Małgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, 02-106, Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106, Warsaw, Poland.
Maciej KaźmierczakDepartment of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, Greater Poland, 60-569, Poznan, Poland.
Tomasz StokłosaDepartment of Immunology, Medical University of Warsaw, 02-097, Warsaw, Poland.
Krzysztof LewandowskiDepartment of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, Greater Poland, 60-569, Poznan, Poland.
Medical University of Warsaw · PLPoznan University of Medical Sciences · PL

Funding

Narodowe Centrum Nauki UMO-2014/14/M/NZ5/00441
6 · The paper itself

Abstract

Neurofibromatosis type 1 is an autosomal dominantly inherited tumor predisposition syndrome, in which inactivating mutations in the neurofibromatosis type 1 gene (NF1) lead to a prolonged activation of the signaling via the RAS/RAF/MAPK pathway leading to loss of growth control and increased cellular proliferation. We report a case of a 78-year-old man, a carrier of the germline NF1 Ala1224Gly/c.3671 C>G mutation, with ASXL1, ZRSR2 and TET2 mutation-positive blastic plasmacytoid dendritic cell neoplasm (BPDCN). Consistent with previously reported data on the role of the NF1 mutations in the pathogenesis of dendritic cell neoplasms, we suggest that the NF1 germline mutation may also increase the risk of BPDCN.

Indexed as

Germ-Line MutationAgedDendritic CellsHematologic NeoplasmsHumansMaleMutation, MissenseNeurofibromatosis 1Signal TransductionBlastic plasmacytoid dendritic cell neoplasmNext-generation sequencingNF1 germline mutation

Identifiers

PMID30977107
OpenAlexW2937780591

What OpenQuestion holds

Textmetadata
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.