Evidence map›Paper›PMID 41748687›Full record

ArticleNPJ precision oncology2026

Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-report.

Cecilia Arthur, Kleopatra Georgantzi, Teresita Díaz de Ståhl, Jikui Guan, Blaz Oder, Cecilia Jylhä, Christopher Illies, Johanna Sandgren, Jan Svoboda, Jesper Eisfeldt and 7 more

Abstract read
In one paragraph

Article in NPJ precision oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

17 authors.

Cecilia ArthurClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Kleopatra GeorgantziPediatric Oncology, Karolinska University Hospital, Stockholm, Sweden.
Teresita Díaz de StåhlClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
Jikui GuanDepartment of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Blaz OderClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Cecilia JylhäClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Christopher IlliesClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
Johanna SandgrenClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
Jan SvobodaDepartment of Pediatric Radiology Karolinska University Hospital, Stockholm, Sweden.
Jesper EisfeldtClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Gisela BarbanyClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Richard RosenquistClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Ulrika SandvikDepartment of Clinical Neuroscience, Division of Neurosurgery, Karolinska Institutet, Stockholm, Sweden.
Daniel HägerstrandClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Bengt HallbergDepartment of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Ruth PalmerDepartment of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Emma ThamClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. emma.tham@ki.se.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a child with an antenatally detected brain tumor that progressed over three years' time despite surgery, chemo- and proton therapy. Retrospective whole-genome and transcriptome sequencing with methylation analysis of primary tumor tissue led to the molecular diagnosis infant-type hemispheric glioma, and identified a novel SNRNP70::ALK fusion, providing a therapeutic target for compassionate-use precision treatment with the ALK tyrosine kinase inhibitor lorlatinib. Functional studies confirmed the fusion protein to be expressed and active in the patient's tumor. After two years of therapy, the child has sustained partial tumor regression on MRI and no new neurological symptoms. We conclude that comprehensive multi-omics analyses are required for correct molecular diagnosis in childhood CNS tumors and can radically impact patient outcome by identifying molecular targets for precision treatment.

Identifiers

PMID41748687
PMCPMC12996540

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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.