ArticleThe Journal of clinical endocrinology and metabolism2015
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06523582 (Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients), which is not on this map. Cited by 73 papers.
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.
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Who cites it
73 citing papers in PubMed, 181 citations in OpenAlex.
- From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.Pituitary · 2025Article
- New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome.The Journal of clinical endocrinology and metabolism · 2025Article
- Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.The Journal of clinical endocrinology and metabolism · 2025Article
- Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.Journal of clinical & translational endocrinology · 2025Article
- 3P association and the evolving significance of succinate dehydrogenase (SDHB) mutation in pituitary adenomas.Hormones (Athens, Greece) · 2025Article
- Genetic and Functional Changes in Mitochondria in the Pituitary Adenoma: The Pathogenesis and Its Therapy.Antioxidants (Basel, Switzerland) · 2024Review
- Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.Current issues in molecular biology · 2024Review
- Germline Variants in Sporadic Pituitary Adenomas.Journal of the Endocrine Society · 2024Article
- Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.Nature reviews. Endocrinology · 2024Review
- Challenges in molecular diagnosis of multiple endocrine neoplasia.Frontiers in endocrinology · 2024Review
- The Driver Role of Pathologists in Endocrine Oncology: What Clinicians Seek in Pathology Reports.Endocrine pathology · 2023Review
- Flavinated SDHA underlies the change in intrinsic optical properties of oral cancers.Communications biology · 2023Article
- Flavinated SDHA Underlies the Change in Intrinsic Optical Properties of Oral Cancers.bioRxiv : the preprint server for biology · 2023Article
- [Rare forms of hereditary endocrine neoplasia: co-existence of pituitary adenoma and pheochromocytoma/paraganglioma].Problemy endokrinologii · 2023Review
- Pituitary Tumorigenesis-Implications for Management.Medicina (Kaunas, Lithuania) · 2023Review
- The Spectrum of Familial Pituitary Neuroendocrine Tumors.Endocrine pathology · 2023Review
- SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?Endocrine-related cancer · 2023Article
- An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germlineFrontiers in endocrinology · 2023Article
- Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.Endocrine-related cancer · 2022Review
- Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.The Journal of clinical endocrinology and metabolism · 2022Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
51 authors at 20 institutions in 11 countries.
Funding
Abstract
contextPituitary adenomas and pheochromocytomas/paragangliomas (pheo/PGL) can occur in the same patient or in the same family. Coexistence of the two diseases could be due to either a common pathogenic mechanism or a coincidence.
objectiveThe objective of the investigation was to study the possible coexistence of pituitary adenoma and pheo/PGL.
designThirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, AIP, CDKN1B) were sequenced using next generation or Sanger sequencing. Loss of heterozygosity study and pathological studies were performed on the available tumor samples.
settingThe study was conducted at university hospitals. PATIENTS: Thirty-nine patients with sporadic of familial pituitary adenoma and pheo/PGL participated in the study. OUTCOME: Outcomes included genetic screening and clinical characteristics.
resultsEleven germline mutations (five SDHB, one SDHC, one SDHD, two VHL, and two MEN1) and four variants of unknown significance (two SDHA, one SDHB, and one SDHAF2) were identified in the studied genes in our patient cohort. Tumor tissue analysis identified LOH at the SDHB locus in three pituitary adenomas and loss of heterozygosity at the MEN1 locus in two pheochromocytomas. All the pituitary adenomas of patients affected by SDHX alterations have a unique histological feature not previously described in this context.
conclusionsMutations in the genes known to cause pheo/PGL can rarely be associated with pituitary adenomas, whereas mutation in a gene predisposing to pituitary adenomas (MEN1) can be associated with pheo/PGL. Our findings suggest that genetic testing should be considered in all patients or families with the constellation of pheo/PGL and a pituitary adenoma.
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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.