ReviewThe Journal of clinical endocrinology and metabolism2017
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Review in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Multiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026Pooled it
- Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.European journal of human genetics : EJHG · 2024Pooled it
- Multiple endocrine neoplasia type 5: emerging evidence and clinical perspectives.Endocrine-related cancer · 2026Review
- The Prevalence and Radiologic Features of Renal Cancers Associated withRadiology. Imaging cancer · 2024Article
- Novel and recurrent genetic variants ofFrontiers in genetics · 2023Article
- Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.Human molecular genetics · 2022Article
- Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- The role of [EJNMMI research · 2021Article
- Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.The Journal of clinical endocrinology and metabolism · 2021Article
- Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine.Human molecular genetics · 2020Review
- Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.The Journal of clinical endocrinology and metabolism · 2020Article
- Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.Genes, chromosomes & cancer · 2020Review
- Natural History and Management of Familial Paraganglioma Syndrome Type 1: Long-Term Data from a Large Family.Journal of clinical medicine · 2020Article
- Clinical implications of the oncometabolite succinate in SDHx-mutation carriers.Clinical genetics · 2020Review
- Molecular imaging and radionuclide therapy of pheochromocytoma and paraganglioma in the era of genomic characterization of disease subgroups.Endocrine-related cancer · 2019Review
- European Association of Nuclear Medicine Practice Guideline/Society of Nuclear Medicine and Molecular Imaging Procedure Standard 2019 for radionuclide imaging of phaeochromocytoma and paraganglioma.European journal of nuclear medicine and molecular imaging · 2019Article
- The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2019Review
- The Impact OfOncoTargets and therapy · 2019Article
- Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.World journal of urology · 2018Review
- Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 1 country.
Funding
Abstract
Context: The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes of predisposition to renal tumors and to PC, paraganglioma (PGL), or head and neck paraganglioma (HNPGL) have been described, but case series of non-VHL-related cases of renal tumor and pheochromocytoma/paraganglioma tumor association syndrome (RAPTAS) are rare. Objective: To determine the clinical and molecular features of non-VHL RAPTAS by literature review and characterization of a case series. Design: A review of the literature was performed and a retrospective study of referrals for investigation of genetic causes of RAPTAS. Results: Literature review revealed evidence of an association, in addition to VHL disease, between germline mutations in SDHB, SDHC, SDHD, TMEM127, and MAX genes and RAPTAS [defined here as the co-occurrence of tumors from both classes (PC/PGL/HNPGL and renal tumors) in the same individual or in first-degree relatives]. In both the literature review and our case series of 22 probands with non-VHL RAPTAS, SDHB mutations were the most frequent cause of non-VHL RAPTAS. A genetic cause was identified in 36.3% (8/22) of kindreds. Conclusion: Renal tumors and PC/PGL/HNPGL tumors share common molecular features and their co-occurrence in an individual or family should prompt genetic investigations. We report a case of MAX-associated renal cell carcinoma and confirm the role of TMEM127 mutations with renal cell carcinoma predisposition.
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Registered trials
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.