ArticleThe Journal of clinical endocrinology and metabolism2025
Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.Endocrine-related cancer · 2026Article
- A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1-5 and beyond.Endocrine oncology (Bristol, England) · 2026Review
- Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.The Journal of clinical endocrinology and metabolism · 2025Article
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22 authors.
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Abstract
contextGenetic tests are part of the routine clinical approach to syndromic and nonsyndromic phenotypes of neuroendocrine neoplasms (NENs). Current data on phenotype-genotype associations in NENs, however, do not accurately represent all populations.
objectiveTo describe the frequency, inventory, and clinical associations of germline defects associated with multiple types of NENs in a Mexican cohort.
methodsBlood DNA from Mexican adults with NENs was analyzed with a 53-gene next-generation sequencing panel developed ad hoc (n = 90) or Sanger sequencing (n = 2). Single nucleotide variants, indels, and structural variants were identified, classified, and subjected to orthogonal confirmation. When possible, tumor samples and blood DNA from additional family members were tested using Sanger sequencing.
resultsNinety-two probands (70.7% women, 51.5% sporadic) were included; 16 carried pathogenic or likely pathogenic (P/LP) variants and were significantly younger at disease onset than the rest (29.6 ± 10.7 vs 40 [21.5-51.5] years, P = .0384). Likely driving variants were identified in three-quarters of Von Hippel Lindau syndrome cases, one-third of multiple endocrine neoplasia (MEN) type 1, one-quarter of early-onset acromegaly/gigantism, and individual cases of Cushing's disease, MEN2A, and medullary thyroid carcinoma. One patient with clinical MEN1 associated with an SDHA variant and 1 with a pituitary tumor and neurofibromatosis type 1 were also identified. Probands with familial disease were more likely to carry P/LP variants than sporadic cases (26.7 vs 8.5%, P = .0282).
conclusionP/LP variants were identified in 17.4% of individuals with NENs. Our research provides a view of the landscape of NEN drivers in a population not previously characterized.
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