Evidence map›Paper›PMID 32345730›Full record

ArticleNeurology2020

Correlation between NF1 genotype and imaging phenotype on whole-body MRI: NF1 radiogenomics.

Yunpeng Liu, Justin T Jordan, Miriam A Bredella, Serkan Erdin, James A Walker, Mark Vangel, Gordon J Harris, Scott R Plotkin, Wenli Cai

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2020. 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
–field-weighted citation impact
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.

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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

9 authors.

Yunpeng LiuFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
Justin T JordanFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
Miriam A BredellaFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
Serkan ErdinFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
James A WalkerFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
Mark VangelFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
Gordon J HarrisFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
Scott R PlotkinFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.
Wenli CaiFrom the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston. Cai.Wenli@mgh.harvard.edu.

Funding

Training Program in Nervous System TumorsK12CA090354 · NCI · MASSACHUSETTS GENERAL HOSPITAL · PI PLOTKIN, SCOTT R · 2001 to 2025
$16.3M
Cloud quantitative imaging for whole-body tumor burden in neurofibromatosesR42CA192600 · NCI · IQ MEDICAL IMAGING, LLC · PI CAI, WENLI, WU, YIN · 2018 to 2019
$1.5M
Functional analysis of pathogenic mutations in Neurofibromatosis Type-1 (NF1)R21NS096402 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI WALKER, JAMES ANTHONY · 2016 to 2017
$465k
NCI NIH HHS K12 CA090354NCI NIH HHS R42 CA192600NINDS NIH HHS R21 NS096402
6 · The paper itself

Abstract

objectiveTo investigate the genotype-phenotype correlation between neurofibromatosis 1 (NF1) germline mutations and imaging features of neurofibromas on whole-body MRI (WBMRI) by using radiomics image analysis techniques. MATERIALS AND

methodsTwenty-nine patients with NF1 who had known germline mutations determined by targeted next-generation sequencing were selected from a previous WBMRI study using coronal short tau inversion recovery sequence. Each tumor was segmented in WBMRI and a set of 59 imaging features was calculated using our in-house volumetric image analysis platform, 3DQI. A radiomics heatmap of 59 imaging features was analyzed to investigate the per-tumor and per-patient associations between the imaging features and mutation domains and mutation types. Linear mixed-effect models and one-way analysis of variance tests were performed to assess the similarity of tumor imaging features within mutation groups, between mutation groups, and between randomly selected groups.

resultsA total of 218 neurofibromas (97 discrete neurofibromas and 121 plexiform neurofibromas) were identified in 19 of the 29 patients. The unsupervised hierarchical clustering in heatmap analysis revealed 6 major image feature patterns that were significantly correlated with gene mutation domains and types with strong to very strong associations of genotype-phenotype correlations in both per-tumor and per-patient studies (

conclusionThis preliminary study identified the NF1 radiogenomics linkage between NF1 causative mutations and MRI radiomic features, i.e., the correlation between

Indexed as

Magnetic Resonance ImagingAdultFemaleGenetic Association StudiesGenotypeGerm-Line MutationHumansImage Processing, Computer-AssistedMaleMiddle AgedNeurofibromaNeurofibromatosis 1PhenotypeWhole Body Imaging

Identifiers

PMID32345730
PMCPMC7455335

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