Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort
Authors' conclusion
P/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.
Study context
- Population
- Mexican adults with neuroendocrine neoplasms (NENs) (syndromic and nonsyndromic); 70.7% women, 51.5% sporadic
- Participants
- 92 probands
- Exposure
- P/LP variants vs Rest
- P/LP variantsn = 16
- Outcome
- Frequency, inventory and clinical associations of germline defects associated with NENs
Methodological details53-gene next-generation sequencing panel, Sanger sequencing, orthogonal confirmation
- 53-gene next-generation sequencing panel
- Sanger sequencing
- Orthogonal confirmation
Main finding
As reported in the abstract
P/LP germline variants
- Probands carrying P/LP variants
- 16
- P/LP variants in individuals with NENs
- 17.4%
- Likely driving variants in Von Hippel Lindau syndrome cases
- three-quarters
- Likely driving variants in MEN1
- one-third
- Likely driving variants in early-onset acromegaly/gigantism
- one-quarter
- Clinical MEN1 with an SDHA variant
- 1
Observational data: associations, not effects.
Further findings
| Outcome | Rest | P value |
|---|---|---|
| Age at disease onsetP/LP carriers vs Rest · significantly younger with P/LP carriers | 40 (range 21.5–51.5) years | P = 0.0384 |
| P/LP variants, familial vs sporadicMore likely with familial disease | P = 0.0282 |
- Age at disease onset: P/LP carriers 29.6 ± 10.7 years
- P/LP variants, familial vs sporadic: Familial 26.7 %
- P/LP variants, familial vs sporadic: Sporadic 8.5%
Original publication
Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort. J Clin Endocrinol Metab. Published 5 February 2025. doi:10.
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