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Characterizing Paratesticular Neoplasms in Proteus Syndrome.

Andres Matoso1,2,3, Russell Vang1,4, Deyin Xing1,2

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Proteus syndrome patients have a high risk of paratesticular tumors, often Müllerian in origin and linked to the AKT1 gene variant. These tumors can recur and show atypical histology, requiring careful monitoring.

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Area of Science:

  • Genetics and Oncology
  • Pathology
  • Endocrinology

Background:

  • Proteus syndrome is a rare mosaic overgrowth disorder linked to somatic AKT1 variants.
  • It increases the risk of benign and malignant neoplasms, including paratesticular masses.
  • Paratesticular tumors in Proteus syndrome are poorly understood.

Purpose of the Study:

  • To document the clinicopathologic features of paratesticular tumors in males with Proteus syndrome.
  • To investigate the histological spectrum and immunohistochemical profile of these tumors.
  • To determine the association with the AKT1 gene variant.

Main Methods:

  • Longitudinal natural history study of 64 males with genetically confirmed Proteus syndrome.
  • Surgical and histopathological review of 12 paratesticular masses.
  • Immunohistochemistry and exome sequencing of tumor samples.

Main Results:

  • 19% of males developed paratesticular masses, typically unilateral, small, and slow-growing.
  • Tumors showed diverse histology, frequently Müllerian-type (papillary cystadenomas, adenocarcinomas, Brenner tumor).
  • Consistent PAX8, WT1, ER, and PR expression supported Müllerian lineage; all sequenced tumors harbored the AKT1 c.49G>A variant.

Conclusions:

  • Paratesticular tumors are a significant component of the Proteus syndrome phenotype.
  • These tumors exhibit Müllerian differentiation and are associated with the AKT1 c.49G>A variant.
  • Recurrence and atypical histology highlight the need for vigilant follow-up.