Evidence map›Paper›PMID 40879283›Full record

ArticleCancer medicine2025

TERT Promoter C228T and C250T Hotspot Mutations Are Absent in BRAF V600E-Positive Langerhans Cell Histiocytosis.

Abdou Malik Da Silva, Zofia Hélias-Rodzewicz, Irena Ungureanu, Jean-François Emile

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer medicine, 2025. 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. 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

4 authors.

Abdou Malik Da SilvaParis-Saclay University, Versailles SQY University, EA4340-BECCOH, Assistance Publique-Hôpitaux de Paris (AP-HP), Ambroise-Paré Hospital, Smart Imaging, Service de Pathologie, Boulogne, France.ORCID https://orcid.org/0000-0002-1985-8520
Zofia Hélias-RodzewiczParis-Saclay University, Versailles SQY University, EA4340-BECCOH, Assistance Publique-Hôpitaux de Paris (AP-HP), Ambroise-Paré Hospital, Smart Imaging, Service de Pathologie, Boulogne, France.
Irena UngureanuParis-Saclay University, Versailles SQY University, EA4340-BECCOH, Assistance Publique-Hôpitaux de Paris (AP-HP), Ambroise-Paré Hospital, Smart Imaging, Service de Pathologie, Boulogne, France.
Jean-François EmileParis-Saclay University, Versailles SQY University, EA4340-BECCOH, Assistance Publique-Hôpitaux de Paris (AP-HP), Ambroise-Paré Hospital, Smart Imaging, Service de Pathologie, Boulogne, France.ORCID https://orcid.org/0000-0002-6073-4466

Funding

PRTK 19-143
6 · The paper itself

Abstract

backgroundIn various malignancies, the co-occurrence of BRAF V600E and TERT promoter mutations (C228T and C250T) has been associated with tumor aggressiveness and poor prognosis. However, the presence of these TERT promoter mutations in Langerhans cell histiocytosis (LCH) remains unexplored.

methodsWe investigated the prevalence of TERT promoter C228T and C250T mutations in 40 formalin-fixed, paraffin-embedded (FFPE) LCH samples positive for BRAF V600E. A nested PCR approach followed by Sanger sequencing, complemented by NGS, was used for mutation screening.

resultsThe variant allele frequency (VAF) of BRAF V600E in the analyzed samples ranged from 0.1% to 33.6%, with a median of 17%, and 33 of 40 successfully amplified LCH samples did not harbor TERT C228T or C250T mutations.

conclusionOur findings indicate that LCH BRAF V600E-positive samples lack the TERT promoter C228T and C250T hotspot mutations. This suggests that TERT promoter mutations may not play a significant role in LCH pathogenesis.

Indexed as

Histiocytosis, Langerhans-CellMutationPromoter Regions, GeneticProto-Oncogene Proteins B-rafTelomeraseAdolescentAdultAgedChildChild, PreschoolDNA Mutational AnalysisFemaleGene FrequencyHumansMaleMiddle AgedBRAF protein, humanProto-Oncogene Proteins B-rafTelomeraseTERT protein, humanBRAFC228T mutationC250T mutationLangerhans cell histiocytosisTERT

Identifiers

PMID40879283
PMCPMC12305348

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.