ArticleThe Journal of clinical endocrinology and metabolism2022
MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.
Article in The Journal of clinical endocrinology and metabolism, 2022. 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 18 papers, 1 of them a synthesis 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.
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.Frontiers in endocrinology · 2024Pooled it
- The germline landscape of pituitary adenomas: established and emerging predisposition genes.The Journal of clinical endocrinology and metabolism · 2026Review
- Genetics of familial acromegaly and pituitary gigantism.The Journal of clinical endocrinology and metabolism · 2026Review
- A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1-5 and beyond.Endocrine oncology (Bristol, England) · 2026Review
- The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.Journal of neuro-oncology · 2025Article
- Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.The Journal of clinical endocrinology and metabolism · 2025Article
- A Pituitary Macroadenoma Cosecreting Prolactin and Growth Hormone in a Patient With Multiple Endocrine Neoplasia Type 4.JCEM case reports · 2025Article
- Pituitary Neuroendocrine Tumors in Multiple Endocrine Neoplasia.Endocrinology and metabolism (Seoul, Korea) · 2025Review
- Molecular reprogramming in thymic neuroendocrine tumors: a narrative review.Mediastinum (Hong Kong, China) · 2025Review
- Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.The Journal of clinical endocrinology and metabolism · 2024Article
- Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis,International journal of molecular sciences · 2024Review
- Syndromic MEN1 parathyroid adenomas consist of both subclonal nodules and clonally independent tumors.Virchows Archiv : an international journal of pathology · 2024Article
- [Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism].Chirurgie (Heidelberg, Germany) · 2023Review
- Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.Journal of endocrinological investigation · 2023Article
- The Spectrum of Familial Pituitary Neuroendocrine Tumors.Endocrine pathology · 2023Review
- Multiple endocrine neoplasia type 4: a new member of the MEN family.Endocrine connections · 2023Article
- Multiomic sequencing of paired primary and metastatic small bowel carcinoids.F1000Research · 2023Article
- Treatment of Prolactinoma.Medicina (Kaunas, Lithuania) · 2022Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextGermline CDKN1B pathogenic variants result in multiple endocrine neoplasia type 4 (MEN4), an autosomal dominant hereditary tumor syndrome variably associated with primary hyperparathyroidism, pituitary adenoma, and duodenopancreatic neuroendocrine tumors.
objectiveTo report the phenotype of 3 unrelated cases each with a unique germline CDKN1B variant (of which 2 are novel) and compare these cases with those described in the current literature. DESIGN/
methodsThree case studies, including clinical presentation, germline, and tumor genetic analysis and family history.
settingTwo tertiary University Hospitals in Sydney, New South Wales, and 1 tertiary University Hospital in Canberra, Australian Capital Territory, Australia. OUTCOME: Phenotype of the 3 cases and their kindred; molecular analysis and tumor p27kip1 immunohistochemistry.
resultsFamily A: The proband developed multiglandular primary hyperparathyroidism, a microprolactinoma and a multifocal nonfunctioning duodenopancreatic neuroendocrine tumor. Family B: The proband was diagnosed with primary hyperparathyroidism from a single parathyroid adenoma. Family C: The proband was diagnosed with a nonfunctioning pituitary microadenoma and ectopic Cushing's syndrome from an atypical thymic carcinoid tumor. Germline sequencing in each patient identified a unique variant in CDKN1B, 2 of which are novel (c.179G > A, p.Trp60*; c.475G > A, p.Asp159Asn) and 1 previously reported (c.374_375delCT, p.Ser125*).
conclusionsGermline CDKN1B pathogenic variants cause the syndrome MEN4. The phenotype resulting from the 3 pathogenic variants described in this series highlights the heterogenous nature of this syndrome, ranging from isolated primary hyperparathyroidism to the full spectrum of endocrine manifestations. We report the first described cases of a prolactinoma and an atypical thymic carcinoid tumor in MEN4.
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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.