Evidence map›Paper›PMID 41646405›Full record

ArticleResearch square2026

Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry.

Cynthia Estrada-Zuniga, Rui Liang, Bethany Landry, Andrea Alvarez, Hector Gonzalez-Cantu, Viviane Nascimento da Conceição, Rolando Trevino, David Gius, Sylvia L Asa, James Powers and 9 more

Abstract readPreprint
In one paragraph

Article in Research square, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Cynthia Estrada-ZunigaDivision of Hematology and Medical Oncology, Department Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, TX.
Rui LiangDepartment Pathology, UTHSA.
Bethany LandryDivision of Hematology and Medical Oncology, Department Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, TX.
Andrea AlvarezDivision of Endocrinology, Department Medicine, UTHSA.
Hector Gonzalez-CantuDivision of Hematology and Medical Oncology, Department Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, TX.
Viviane Nascimento da ConceiçãoDivision of Hematology and Medical Oncology, Department Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, TX.
Rolando TrevinoDepartment Radiation Oncology and Barshop Institute for Longevity and Aging Studies, UTHSA.
David GiusDepartment Radiation Oncology and Barshop Institute for Longevity and Aging Studies, UTHSA.
Sylvia L AsaDepartment of Pathology, University Hospital, Cleveland Medical Center, Case Western Reserve University, Cleveland, OH, USA.
James PowersDepartment of Pathology and Laboratory Medicine, Tufts Medical Center, Boston, MA, USA.
Tamara ProdanovSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Anand VaidyaDivision of Endocrinology, Diabetes, and Metabolism, Mass General Brigham, Harvard Medical School, Boston, MA, USA.
Rodrigo A ToledoVall d'Hebron Institute of Oncology (VHIO) Barcelona.
Jean-Pierre BayleyDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Debbie L CohenDepartment of Medicine, Renal Division, University of Pennsylvania, Philadelphia, PA.
Arthur S TischlerDepartment of Pathology and Laboratory Medicine, Tufts Medical Center, Boston, MA, USA.
Karel PacakSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Faqian LiDepartment Pathology, UTHSA.
Patricia L M DahiaDivision of Hematology and Medical Oncology, Department Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, TX.ORCID 0000-0002-7757-370X

Funding

Evaluating the impact of genetic ancestry on the biology and drug response profile of pheochromocytoma and paraganglioma-derived organoid modelsR01CA264248 · NCI · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI DAHIA, PATRICIA LEAL, SORAGNI, ALICE · 2021 to 2025
$3.2M
Dys-regulation of the MnSOD-Ac-ROS-HIF2a axis promotes IR / Cisplatin resistance phenotypeR01CA214025 · NCI · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI GIUS, DAVID · 2017 to 2021
$2.0M
Lineage Plasticity, due to Disruption of MnSOD Biology, drives resistance to Ionizing Radiation / Androgen Deprivation TherapyR01CA257148 · NCI · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI GIUS, DAVID · 2021 to 2025
$2.0M
NCI NIH HHS R01 CA214025NCI NIH HHS R01 CA257148NCI NIH HHS R01 CA264248
6 · The paper itself

Abstract

Context: Pheochromocytomas and paragangliomas (PPGLs) are rare, genetically diverse tumors originating from the adrenal medulla or extra-adrenal paraganglia, respectively. It is critically important to establish the pathogenic status of genetic variants, especially for the 35-40% patients carrying a germline change, as it impacts patient management and family surveillance. However, determining the clinical impact of variants of uncertain significance (VUS) remains challenging and requires additional testing. This is especially relevant for genes for which limited functional information is available, such as the Objective: Here, we evaluated RET expression by immunohistochemistry (IHC) as a potential aid to highlight TMEM127 dysfunction in PPGLs carrying Methods: We performed RET IHC in 104 formalin-fixed and paraffin-embedded (FFPE) sections of clinically and genetically diverse PPGLs and applied histochemical scoring (HS) for membrane (MH-S) and cytoplasm (CH-S) staining. Results: Tumors driven by Conclusions: These findings point to increased RET membrane expression as a promising biomarker for loss-of-function

Indexed as

biomarkergermline variantimmunohistochemistryparagangliomaspheochromocytomasRETTMEM127VUS

Identifiers

PMID41646405
PMCPMC12869660

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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.