Evidence map›Paper›PMID 35319816›Full record

ArticleMolecular genetics & genomic medicine2022

A novel fusion between CDC42BPB and ALK in a patient with quadruple wild-type gastrointestinal stromal tumor.

Wen Huang, Wei Yuan, Lei Ren, Chen Xu, Rongkui Luo, Yuhong Zhou, Weiqi Lu, Qing Hao, Mian Xu, Yingyong Hou

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

Article in Molecular genetics & genomic medicine, 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
2.0field-weighted citation impact, top 14% 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, 12 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Review
  7. Case Report: A novelFrontiers in oncology · 2023
    Article
  8. GISTs withCancers · 2022
    Article
  9. 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 2 institutions in 1 country.

Wen HuangDepartment of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China.
Wei YuanDepartment of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China.
Lei RenDepartment of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China.
Chen XuDepartment of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China.
Rongkui LuoDepartment of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China.
Yuhong ZhouDepartment of Medical Oncology, Zhongshan Hospital, Fudan University, Shanghai, China.
Weiqi LuDepartment of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
Qing HaoShanghai OrigiMed Co., Ltd, Shanghai, China.
Mian XuShanghai OrigiMed Co., Ltd, Shanghai, China.
Yingyong HouDepartment of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China.ORCID 0000-0001-9156-2305
Sun Yat-sen University · CNShanghai Chengtou (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGastrointestinal stromal tumors (GISTs) are the most common type of mesenchymal tumor in gastrointestinal tract, with striking features of morphology and immunohistochemistry. But GISTs in pregnancy could seldom be found. Pathogenic activating mutations of the proto-oncogene KIT and PDGFRA are detected in majority GISTs, and adjuvant imatinib therapy targeting KIT and PDGFRA mutations is recommended for patients with high-risk GIST. However, some rare subgroups with distinct molecular features remain uncovered and more therapeutic targets need to be revealed.

methodsThe DNA/RNA samples were detected using the NGS-based YuanSu450 gene panel. After identifying the CDC42BPB-ALK fusion by NGS, this novel fusion was further confirmed by Sanger sequencing. Subsequently, FISH analysis was performed using the Vysis ALK Break Apart FISH Probe kit to testify the ALK status. ALK protein expression was confirmed by IHC (D5F3 and 5A4).

resultsHerein, we reported the first case of quadruple wild-type (WT) GIST with ALK-CDC42BPB fusion and ALK (D5F3) overexpression. In this study, we described a 33-year-old pregnant patient in lactation who had a massive space occupying lesion (with the maximum diameter of 22 cm) in the stomach and was eventually diagnosed as quadruple WT GIST (KIT

conclusionWe unexpectedly found that this GIST patient showed ALK (D5F3) overexpression and harbored a novel fusion CDC42BPB exon 24-ALK in exon 20.

Indexed as

Gastrointestinal Stromal TumorsAdultFemaleHumansMutationMyotonin-Protein KinaseProto-Oncogene Proteins c-kitReceptor, Platelet-Derived Growth Factor alphaReceptor Protein-Tyrosine KinasesCDC42BPB protein, humanMyotonin-Protein KinaseProto-Oncogene Proteins c-kitReceptor, Platelet-Derived Growth Factor alphaReceptor Protein-Tyrosine KinasesALK (D5F3) expressionALK rearrangementgastrointestinal stromal tumorsquadruple WT GISTreceptor tyrosine kinase

Identifiers

PMID35319816
PMCPMC9034673
OpenAlexW4220842339

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.