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March 12, 2026Endocrine PathologyOpen Access

In-depth Genetic and Molecular Characterization of Unilateral Coexisting Adrenal Cortical Adenoma and Carcinoma in the Context of MEN1 Syndrome

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Authors

FCFrancesca CioppiTOTommaso OrioliGCGiulia Cantini

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Overview

Comparative analysis uncovers genetic relationships between benign and malignant adrenal tumors in MEN1 patients, suggesting increased cancer risk.

Key Points

  • To investigate the genetic and molecular characteristics of coexisting adrenal cortical adenomas and carcinomas in a MEN1 patient.
  • Conducted whole exome sequencing on adrenal tumor samples from a MEN1 patient
  • Analyzed genetic variants in adrenal cortical adenomas and carcinomas
  • Performed bioinformatic clonal evolution analysis to assess tumor progression
  • Identified MEN1 loss of heterozygosity in the adrenal cortical carcinoma but not in the adenoma
  • Most genetic variants in the adenoma were benign, with two uncertain variants
  • Detected pathogenic mutations in TP53 and NF1 in shared variants between carcinoma and its recurrence

Cite This Study

Cioppi et al. (2026) studied this question.

synapsesocial.com/papers/69b25adb96eeacc4fcec8ee5https://doi.org/10.1007/s12022-026-09908-0
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