Endocrine-Related Cancer logo.
Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms. By Blanca R Carranza-Zavala et al.
Figure 1. Initial assessment of AIP variants in the study cohort. (A) Coronal (left) and sagittal (right) representative gadolinium-enhanced T1-weighted preoperatory magnetic resonance images of Case 3, showing a pituitary macroadenoma. (B) Frequency of AIP variants within each clinical category included in the cohort of adult patients with NENs. (C) Schematic representation of AIP exons (top) and corresponding protein domains (bottom) displaying the VOI identified in this study. α-helix, carboxy-terminal alpha-helix; CS, Cushing’s syndrome; EO, early onset; GH, growth hormone; LB, likely benign; MEN, multiple endocrine neoplasia; MEN1, MEN type 1; MEN2A and MEN2B, MEN types 2A and 2B; MTC, medullary thyroid carcinoma; NENs, neuroendocrine neoplasms; NF1, neurofibromatosis type 1; P/LP, pathogenic and likely pathogenic; PanNEN, pancreatic neuroendocrine tumor; PHPT, primary hyperparathyroidism; PitNET, pituitary neuroendocrine tumor; PPGL, pheochromocytoma or paraganglioma; PPIase, peptidyl-prolyl cis–trans isomerase domain; TPR1, TPR2, and TPR3, tetratricopeptide repeats 1, 2, and 3; VHL, von Hippel–Lindau syndrome; VOI, variants of interest; VUS, variant of uncertain significance.
Citation: Endocrine-Related Cancer 33, 1; 10.1530/ERC-25-0095.
Published by Bioscientifica logo.
80 Years 1946-2026 Society for Endocrinology logo.
Could AIP loss-of-function contribute to neuroendocrine neoplasms (NENs) beyond pituitary tumours?
Blanca R Carranza-Zavala et al. investigated the prevalence and in‑vitro effects of germline AIP variants in Mexican patients with NENs.
🔓 Full research #OpenAccess: doi.org/10.1530/ERC-25-0095