Evidence map›Paper›PMID 41879893›Full record

ArticleJournal of endocrinological investigation2026

Mutational patterns in a large cohort of parathyroid carcinomas.

Chetanya Pandya, Andrew V Uzilov, Jessica Costa-Guda, Justin Bellizzi, Patricia Taik, Aye S Moe, Maya Strahl, Karin van der Tuin, Mark Stevenson, Branca M Cavaco and 12 more

Erratum issuedAbstract read
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In one paragraph

Article in Journal of endocrinological investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. 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

22 authors.

Chetanya PandyaDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Andrew V UzilovDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jessica Costa-GudaCenter for Molecular Oncology, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, CT, 06030-3101, USA.
Justin BellizziCenter for Molecular Oncology, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, CT, 06030-3101, USA.
Patricia TaikDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Aye S MoeDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Maya StrahlDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Karin van der TuinDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Mark StevensonAcademic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Oxford, UK.
Branca M CavacoMolecular Endocrinology Group, Molecular Pathobiology Research Unit (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil (IPOLFG), Lisboa, Portugal.
Filomena CetaniDepartment of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy.
Claudio MarcocciDepartment of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy.
Auli KarhuApplied Tumor Genomics Research Program, Research Programs Unit, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Johanna ArolaDepartment of Pathology, HUSLAB, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
Camilla Schalin-JänttiEndocrinology, Abdominal Center, Helsinki University Hospital, University of Helsinki, ENDO-ERN (European Reference Network on Rare Endocrine Conditions), Helsinki, Finland.ORCID http://orcid.org/0000-0002-2428-0161
Hans MorreauDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Rajesh V ThakkerAcademic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Oxford, UK.
Eric E SchadtDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Robert SebraDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Shuyu D LiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Rong Chen *Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Andrew Arnold *Center for Molecular Oncology, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, CT, 06030-3101, USA. aarnold@uchc.edu.ORCID http://orcid.org/0000-0002-8821-8527

Funding

Ministério da Ciência, Tecnologia e Ensino Superior Ministério da Ciência, Tecnologia e Ensino SuperiorMurray-Heilig Fund in Molecular Medicine Murray-Heilig Fund in Molecular MedicineNational Institute for Health Research National Institute for Health ResearchWellcome TrustWellcome Trust Wellcome Trust
6 · The paper itself

Abstract

purposeA lack of targeted therapies make parathyroid carcinoma, a diagnostically challenging malignancy, difficult to treat. The rarity of this tumor type necessitates international collaboration to collect a sizable sample set for study. Prior studies have revealed the importance of driver mutations in the CDC73 gene and identified several putative drivers/aberrant pathways including PI3K/mTOR activation and CCND1 (cyclin D1) amplification. In this study, we sought to better understand the prevalence of putative oncogenic drivers in parathyroid carcinoma.

methodsWe subjected an expanded cohort of 71 sporadic parathyroid carcinomas, fulfilling stringent WHO criteria, to next-generation DNA sequencing on a custom 16-gene targeted panel.

resultsOne or more variant was detected in 44 tumors (62%) and 27 (38%) had no detectable variant. Consistent with earlier studies, we detected loss-of-function CDC73 mutations in 44% (31/70) of evaluable patients, including germline pathogenic variants in 9 patients (36 patients evaluable for somatic status as matched normal available). Notably, mutations in the PI3K/AKT/mTOR pathway were seen in 12.9% (9/70) of evaluable patients, providing further evidence of this as a key therapeutically actionable pathway in parathyroid carcinoma. Correlating genomic and clinical features revealed that patients harboring CDC73 mutations are more likely suffer from life threatening recurrent/metastatic parathyroid carcinoma (P = 0.024) than those without CDC73 variants.

conclusionsThis genomic characterization of a large parathyroid carcinoma cohort improves understanding of the genomic underpinnings of this rare malignancy, provides novel evidence for genotype-phenotype correlation with recurrent/metastatic disease, and may help to provide a rational basis for individualized treatments.

Indexed as

Biomarkers, TumorCarcinomaMutationParathyroid NeoplasmsTumor Suppressor ProteinsAdultAgedCohort StudiesFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPhosphatidylinositol 3-KinasesPrognosisTOR Serine-Threonine KinasesBiomarkers, TumorCDC73 protein, humanMTOR protein, humanPhosphatidylinositol 3-KinasesTOR Serine-Threonine KinasesTumor Suppressor ProteinsCancerCDC73Disorders of calcium/phosphate metabolismparathyroid carcinomaParathyroid-related disorders

Identifiers

PMID41879893
PMCPMC13627242

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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.