Evidence map›Paper›PMID 39596125›Full record

ArticleInternational journal of molecular sciences2024

Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.

Idoia Martínez de Lapiscina, Estrella Diego, Candela Baquero, Elsa Fernández, Edelmiro Menendez, Maria Dolores Moure, Teresa Ruiz de Azua, Luis Castaño, Nuria Valdés, On Behalf Of The Collaborative Working Group

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Article in International journal of molecular sciences, 2024. 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. A novel germline (c.314T>A)Frontiers in endocrinology · 2025
    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

10 authors.

Idoia Martínez de LapiscinaBiobizkaia Health Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), European Reference Network on Rare Endocrine Conditions (Endo-ERN), Plaza de Cruces s/n, 48903 Barakaldo, Spain.ORCID 0000-0001-8943-1429
Estrella DiegoBiobizkaia Health Research Institute, Endocrinology and Nutrition Department, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Spain.ORCID 0009-0009-2201-2129
Candela BaqueroBiobizkaia Health Research Institute, University of the Basque Country (UPV-EHU), Plaza de Cruces s/n, 48903 Barakaldo, Spain.
Elsa FernándezBiobizkaia Health Research Institute, Endocrinology and Nutrition Department, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Spain.
Edelmiro MenendezPrincipality of Asturias Health Research Institute, Department of Endocrinology and Nutrition, Asturias Central University Hospital, Oviedo University, CIBERER. Av. Roma s/n, 33011 Oviedo, Spain.ORCID 0000-0002-9548-7821
Maria Dolores MoureBiobizkaia Health Research Institute, Endocrinology and Nutrition Department, Cruces University Hospital, UPV-EHU, Plaza de Cruces s/n, 48903 Barakaldo, Spain.
Teresa Ruiz de AzuaEndocrinology Department, Urduliz Hospital, Goieta 32, 48610 Urduliz, Spain.
Luis CastañoBiobizkaia Health Research Institute, Pediatric Endocrinology Department, Cruces University Hospital, UPV-EHU, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Endo-ERN, Plaza de Cruces s/n, 48903 Barakaldo, Spain.
Nuria ValdésBiobizkaia Health Research Institute, Endocrinology and Nutrition Department, Cruces University Hospital, UPV-EHU, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CI-BERDEM), Endo-ERN, Plaza de Cruces s/n, 48903 Barakaldo, Spain.
On Behalf Of The Collaborative Working Group

Funding

Basque Department of Education IT739-22Basque Department of Health 2023111057Basque Foundation for Health Innovation and Research BIO/20/CI/006/BCB
6 · The paper itself

Abstract

Pheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype-genotype correlation is poor; therefore, additional studies are needed to understand their pathogenesis. We describe the clinical characteristics of 63 patients with PPGLs and perform a genetic study. Genetic screening was performed via a targeted gene panel, and clinical variables were compared among patients with a positive molecular diagnosis and negative ones in both PCC and PGL cohorts. The mean age of patients with PCC was 50.0, and the mean age of those with PGL was 54.0. Disease-causing germline variants were identified in 16 individuals (25.4%), twelve and five patients with PCC and PGL, respectively. Genetically positive patients were younger at diagnosis in both cohorts. Variants in genes associated with either isolated PPGLs or syndromic forms of the disease were detected in a cohort of PPGLs. We have identified novel variants in known genes and set the importance of genetic screening to every patient with PPGLs, with a special focus on the young. A longer follow up of patients with variants in genes associated with syndromic forms is of clinical value.

Indexed as

Adrenal Gland NeoplasmsParagangliomaPheochromocytomaAdolescentAdultAgedCohort StudiesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGerm-Line MutationHumansMaleMiddle Agedgeneticsgermlineparagangliomapheochromocytoma

Identifiers

PMID39596125
PMCPMC11593415

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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.