Evidence map›Paper›PMID 35042566›Full record

ArticleHereditas2022

Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.

Yi Sun, Xindong Fan, Yamin Rao, Zhenfeng Wang, Deming Wang, Xitao Yang, Lianzhou Zheng, Mingzhe Wen, Ren Cai, Lixin Su

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

Article in Hereditas, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 53% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

10 authors at 1 institution in 1 country.

Yi Sun *Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Xindong Fan *Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Yamin RaoDepartment of pathology, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Zhenfeng WangDepartment of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Deming WangDepartment of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Xitao YangDepartment of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Lianzhou ZhengDepartment of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Mingzhe WenDepartment of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Ren CaiDepartment of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China. DrRenCai@gmail.com.ORCID http://orcid.org/0000-0002-6025-0170
Lixin SuDepartment of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China. sulixin1975@126.com.
Shanghai Jiao Tong University · CN

Funding

Health Clinical Research Project of Shanghai Municipal Health Commission 202040328Peripheral Arteriovenous Malformations Biological Sample Bank Construction Project of Shanghai Ninth People's hospital YBKB202104
6 · The paper itself

Abstract

Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas. Complications of MS, such as bone deformities and dysfunction caused by enchondromas, usually increase during childhood and adolescence. Malignant transformation of enchondromas and other malignancies are the most severe complications. MS is caused by somatic mosaic IDH1/2 mutations, 65% of which are the IDH1 p.Arg132Cys variant. Due to its rarity, there is no international consensus for the most appropriate treatment option of MS.Here, we report a case of a female patient presenting with multiple enchondromas and spindle cell hemangiomas (SCHs) on bilateral hand and feet diagnosed as MS. A detailed clinical, pathological and genetic diagnosis of MS was rendered. Integrative Genomics Viewer (IGV) visualization of next-generation sequencing (NGS) data revealed the consistent detection of the low-frequency somatic IDH1 p.Arg132Cys mutation between SCH tissue and cystic blood-derived cfDNA. This is the first successful molecular diagnosis of MS complicated with SCH utilizing minimally invasive cfDNA techniques. We suggest that cfDNA sequencing could potentially be used as an alternative, reliable and sensitive method to identify molecular information for genetic diagnosis and for future targeted therapies of MS.

Indexed as

Cell-Free Nucleic AcidsEnchondromatosisHemangiomaFemaleHumansIsocitrate DehydrogenaseMutationCell-Free Nucleic AcidsIsocitrate DehydrogenaseCell-free DNAEnchondromaIDH1 mutationMaffucci syndromeSpindle cell hemangioma

Identifiers

PMID35042566
PMCPMC8764769
OpenAlexW4205949417

What OpenQuestion holds

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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.