ArticleVirchows Archiv : an international journal of pathology2015
Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.
Article in Virchows Archiv : an international journal of pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 46 citations in OpenAlex.
- The evolving roles of pathologists in paragangliomas and pheochromocytomas.Virchows Archiv : an international journal of pathology · 2026Review
- Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.Endocrine pathology · 2022Review
- A Multicenter Epidemiological Study on Second Malignancy in Non-Syndromic Pheochromocytoma/Paraganglioma Patients in Italy.Cancers · 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
- Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.The Journal of clinical endocrinology and metabolism · 2020Article
- Pheochromocytoma Due toEuropean endocrinology · 2020Article
- NovelCase reports in endocrinology · 2019Article
- Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.World journal of urology · 2018Review
- The Diagnosis and Clinical Significance of Paragangliomas in Unusual Locations.Journal of clinical medicine · 2018Review
- Takotsubo syndrome induced by malignant pheochromocytoma in a patient with type 2 papillary renal cell carcinoma - a case report.Clujul medical (1957) · 2018Article
- Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.The Journal of clinical endocrinology and metabolism · 2017Review
- Molecular and phenotypic evaluation of a novel germlineEndocrine-related cancer · 2017Article
- Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127).Endocrine pathology · 2017Article
- Composite Pheochromocytoma/Paraganglioma-Ganglioneuroma: A Clinicopathologic Study of Eight Cases with Analysis of Succinate Dehydrogenase.Endocrine pathology · 2017Article
- Current Diagnostic Status of Pheochromocytomaand Future Perspective: A Mini Review.Iranian journal of pathology · 2017Review
- [Hereditary renal tumors: More common than expected?].Der Pathologe · 2016Review
- [Succinate dehydrogenase (SDH)-deficient renal cell carcinoma].Der Pathologe · 2016Article
- Synchronous renal cell carcinoma and pheochromocytoma presenting as acute decompensated heart failure.Journal of postgraduate medicineArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in Von Hippel-Lindau (VHL), succinate dehydrogenase subunit B (SDHB), SDHC, and SDHD have been detected in individuals with synchronous or metachronous pheochromocytoma/paraganglioma (PHEO/PGL) and renal cell carcinoma (RCC). Most recently, FH and TMEM127 germline mutations, which are known to cause familial PHEO/PGL, have also been identified in familial RCC. We report the first case of an individual with both a PHEO and a multilocular clear cell RCC driven by a novel germline mutation in the TMEM127 gene. Morphologically, both the PHEOs and multilocular RCC were indistinguishable from those associated with VHL disease. However, at the biochemical level, the predominant adrenergic catecholamine profile distinguishes this presentation from SDH- and VHL-related PHEOs. This case justifies the prioritization of genetic testing for germline TMEM127 in individuals with RCC and PHEO with a predominantly adrenergic phenotype.
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