Evidence map›Paper›PMID 33262528›Full record

ArticleLeukemia2021

A highly heterogeneous mutational pattern in POEMS syndrome.

Jia Chen, Xue-Min Gao, Hao Zhao, Hao Cai, Lu Zhang, Xin-Xin Cao, Dao-Bin Zhou, Jian Li

Abstract read
PubMed Publisher
In one paragraph

Article in Leukemia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.6field-weighted citation impact, top 13% 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

18 citing papers in PubMed, 25 citations in OpenAlex.

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  15. Update on the POEMS syndrome.Blood research · 2022
    Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Jia Chen *Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China.ORCID http://orcid.org/0000-0003-3486-7705
Xue-Min Gao *Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China.ORCID http://orcid.org/0000-0001-8032-060X
Hao ZhaoDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China.
Hao CaiDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China.ORCID http://orcid.org/0000-0003-2153-9470
Lu ZhangDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China.
Xin-Xin CaoDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China.ORCID http://orcid.org/0000-0001-7884-3073
Dao-Bin ZhouDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China.ORCID http://orcid.org/0000-0002-1592-1932
Jian LiDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 100730, Beijing, China. lijian@pumch.cn.ORCID http://orcid.org/0000-0002-4549-0694
Chinese Academy of Medical Sciences & Peking Union Medical College · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

POEMS syndrome is a rare plasma cell dyscrasia. Little is known about its pathogenesis and genetic features. We analyzed the mutational features of purified bone marrow plasma cells from 42 patients newly diagnosed with POEMS syndrome using a two-step strategy. Whole exome sequencing of ten patients showed a total of 170 somatic mutations in exonic regions and splicing sites, with paired peripheral blood mononuclear cells as a control. Three significantly mutated genes-LILRB1 (10%), HEATR9 (20%), and FMNL2 (10%)-and eight mutated known driver genes (MYD88, NFKB2, CHD4, SH2B3, POLE, STAT3, CHD3, and CUX1) were identified. Target region sequencing of 77 genes were then analyzed to validate the mutations in an additional 32 patients. A total of 32 mutated genes were identified, and genes recurrently mutated in more than three patients included CUX1 (19%), DNAH5 (16%), USH2A (16%), KMT2D (16%), and RYR1 (12%). Driver genes of multiple myeloma (BIRC3, LRP1B, KDM6A, and ATM) and eleven genes reported in light-chain amyloidosis were also identified in target region sequencing. Notably, VEGFA mutations were detected in one patient. Our study revealed heterogeneous genomic profiles of bone marrow plasma cells in POEMS syndrome, which might share some similarity to that of other plasma cell diseases.

Indexed as

BiomarkersGenetic Association StudiesGenetic HeterogeneityGenetic Predisposition to DiseaseMutationAdultAgedAllelesBone MarrowBone Marrow CellsComputational BiologyExome SequencingFemaleGene OntologyGenotypeHumansBiomarkersSDC1 protein, humanSyndecan-1

Identifiers

PMID33262528
OpenAlexW3109104668

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.