ArticlePituitary2023
Sporadic pituitary adenoma with somatic double-hit loss of MEN1.
Article in Pituitary, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Corticotroph Tumour Progression 37 Years After Bilateral Adrenalectomy with Temozolomide-Naive Response to Pembrolizumab.Endocrine oncology (Bristol, England) · 2026Article
- Case Report: Genomic characterization of a rare skull-base plasmacytoma.Frontiers in oncology · 2025Article
- Genetic and Functional Changes in Mitochondria in the Pituitary Adenoma: The Pathogenesis and Its Therapy.Antioxidants (Basel, Switzerland) · 2024Review
- High level of aneuploidy and recurrent loss of chromosome 11 as relevant features of somatotroph pituitary tumors.Journal of translational medicine · 2024Article
- Sporadic Parathyroid Carcinoma Treated With Lenvatinib, Exhibiting a Novel SomaticJCEM case reports · 2024Article
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Authors and funding
7 authors.
Funding
Abstract
purposePituitary adenomas commonly arise in patients with MEN1 syndrome, an autosomal dominant condition predisposing to neuroendocrine tumor formation, and typically diagnosed in patients with a relevant family cancer history. In these patients with existing germline loss of MEN1 on one allele, somatic loss of the second MEN1 allele leads to complete loss of the MEN1 protein, menin, and subsequent tumor formation.
methodsWhole exome sequencing was performed on the tumor and matching blood under an institutional board approved protocol. DNA extraction and analysis was conducted according to previously described methods.
resultsWe describe a 23 year-old patient with no significant past medical history or relevant family history who underwent surgical resection of a symptomatic and medically resistant prolactinoma. Whole exome sequencing of tumor and blood samples revealed somatic loss of MEN1 at both alleles, suggesting a double hit mechanism, with no underlying germline MEN1 mutation.
conclusionTo our knowledge, this is the first case of pituitary adenoma to arise from somatic loss of MEN1 and in the absence of an underlying germline MEN1 mutation.
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