Evidence map›Paper›PMID 38388693›Full record

ArticleNPJ precision oncology2024

Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm.

Cecilia Arthur, Lena-Maria Carlson, Jan Svoboda, Ulrika Sandvik, Cecilia Jylhä, Magnus Nordenskjöld, Stefan Holm, Emma Tham

Abstract read
In one paragraph

Article in NPJ precision oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–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

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pediatric low-grade brainstem glioma: a review of current diagnosis and treatment paradigms in the molecular era.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025
    Pooled it
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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

8 authors.

Cecilia ArthurClinical Genetics, Karolinska University Hospital, 171 76, Stockholm, Sweden. cecilia.arthur@ki.se.ORCID http://orcid.org/0000-0002-0645-6530
Lena-Maria CarlsonPediatric Oncology, Karolinska University Hospital, 171 77, Stockholm, Sweden.
Jan SvobodaDepartment of Pediatric Radiology, Karolinska University Hospital, 171 76, Stockholm, Sweden.ORCID http://orcid.org/0009-0006-5546-1017
Ulrika SandvikDepartment of Clinical Neuroscience, Division of Neurosurgery, Karolinska Institutet, 171 77, Stockholm, Sweden.
Cecilia JylhäClinical Genetics, Karolinska University Hospital, 171 76, Stockholm, Sweden.
Magnus NordenskjöldClinical Genetics, Karolinska University Hospital, 171 76, Stockholm, Sweden.
Stefan HolmPediatric Oncology, Karolinska University Hospital, 171 77, Stockholm, Sweden.
Emma ThamClinical Genetics, Karolinska University Hospital, 171 76, Stockholm, Sweden.

Funding

Barncancerfonden (Swedish Childhood Cancer Foundation) TJ2022-0131
6 · The paper itself

Abstract

Midline CNS tumors are occasionally inaccessible for surgical biopsies. In these instances, cell-free DNA (cfDNA) may serve as a viable alternative for molecular analysis and identification of targetable mutations. Here, we report a young child with an inoperable brainstem tumor in whom a stereotactic biopsy was deemed unsafe. The tumor progressed on steroids and after radiotherapy the patient developed hydrocephalus and received a ventriculoperitoneal shunt. Droplet digital PCR analysis of cfDNA from an intraoperative cerebrospinal fluid liquid biopsy revealed a BRAF V600 mutation enabling targeted treatment with MEK and BRAF inhibitors. The patient, now on trametinib and dabrafenib for 1 year, has had substantial tumor volume regression and reduction of contrast enhancement on MRIs and is making remarkable clinical progress. This case highlights that in a subset of CNS tumors, access to liquid biopsy analysis may be crucial to identify actionable therapeutic targets that would otherwise go undiscovered.

Identifiers

PMID38388693
PMCPMC10884019

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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.