Evidence map›Paper›PMID 42155081›Full record

ArticleArchives of endocrinology and metabolism2026

Genetic alterations of telomere maintenance pathways in paragangliomas.

Lucas Batini, Eduardo C Lobato, Felipe Freitas-Castro, Lucas S Santana, Gustavo F C Fagundes, Ana Caroline F Afonso, Izabel T Nakamura, Lucas B Rossetti, Berenice B Mendonca, Ana Claudia Latronico and 1 more

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Article in Archives of endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Lucas BatiniUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Eduardo C LobatoUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Felipe Freitas-CastroUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Lucas S SantanaUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Gustavo F C FagundesUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Ana Caroline F AfonsoUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Laboratório de Hormônios e Genética Molecular LIM42 e Laboratório de Sequenciamento em Larga Escala (SELA), Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Izabel T NakamuraUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Lucas B RossettiUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Berenice B MendoncaUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Laboratório de Hormônios e Genética Molecular LIM42 e Laboratório de Sequenciamento em Larga Escala (SELA), Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Ana Claudia LatronicoUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Madson Q AlmeidaUniversidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo investigate somatic pathogenic variants (PVs) in the TERT promoter region and variants in the ATRX gene, both related to telomere maintenance in cancer, in a Brazilian cohort of adrenal and extra-adrenal paragangliomas (PPGLs), and to correlate these with metastatic disease as well as with clinical, radiological, and pathological characteristics. MATERIALS AND

methodsThe TERT promoter was analyzed by automated Sanger sequencing or whole-exome somatic sequencing in a cohort of 79 patients with PPGLs (53 non-metastatic and 26 metastatic), encompassing a total of 81 tumors. ATRX was assessed through whole-exome somatic sequencing in 26 patients from this cohort.

resultsGermline PVs in Cluster 1A genes were identified in 28 of 79 patients (35.4%), including 20 patients harboring PVs in the Succinate Dehydrogenase Complex Iron Sulfur Subunit B gene (SDHB) (25.3%) and 8 patients (10.1%) with PVs in other Cluster 1A genes. Somatic PVs in the TERT promoter (c.-124C>T/C228T) were detected in two metastatic PPGLs (2.5% of the total cohort). Three PPGLs (two metastatic), among the 26 patients studied, harbored somatic ATRX variants classified as likely benign (11.5%). Somatic PVs in the TERT promoter were identified in patients with germline SDHB PVs. Among metastatic patients with germline SDHB PVs, the frequency of somatic PVs in the TERT promoter was 16.7%.

conclusionThis study expands the understanding of telomere maintenance mechanisms in PPGLs in a Brazilian cohort enriched for SDHB alterations. Somatic variants in the TERT promoter were associated with aggressive tumor features, such as extra-adrenal location, germline SDHB PVs, and metastatic disease.

Indexed as

Adrenal Gland NeoplasmsParagangliomaParaganglioma, Extra-AdrenalTelomeraseTelomere HomeostasisX-linked Nuclear ProteinAdultAgedBrazilExome SequencingFemaleHumansMaleMiddle AgedPromoter Regions, GeneticSuccinate DehydrogenaseATRX protein, humanSDHB protein, humanSuccinate DehydrogenaseTelomeraseTERT protein, humanX-linked Nuclear ProteinAdrenal paragangliomaexome sequencinggeneticsparagangliomatelomerase

Identifiers

PMID42155081
PMCPMC13186559

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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.