Sex-Cord Tumor with Annular Tubules with Unusual Morphology in an Infant with Peutz-Jeghers Syndrome

Fetal Pediatr Pathol. 2022 Apr;41(2):306-311. doi: 10.1080/15513815.2020.1786200. Epub 2020 Jul 1.

Abstract

Background Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. The clinical features of PJS manifest in first two decades of life; however, neonatal presentation is uncommon. Case report: We present a five day old girl with PJS that presented with obstructive hamartomatous polyps in the sigmoid colon. At colostomy closure at six months, an incidental ovarian sex-cord tumor with annular tubules (SCTAT) was detected. It showed predominantly a solid pattern with limited tubule formation and was composed of lipid-rich cells. She had no hormonal symptoms. Conclusion: SCTAT can occur as young as six months of age in PJS, and may show histologic overlap with lipid-rich Sertoli cell tumors.

Keywords: Peutz-Jeghers syndrome; Sertoli cell tumors; sex-cord tumor with annular tubules; sex-cord tumors.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Genotype
  • Humans
  • Infant, Newborn
  • Ovarian Neoplasms* / pathology
  • Peutz-Jeghers Syndrome* / complications
  • Peutz-Jeghers Syndrome* / diagnosis
  • Peutz-Jeghers Syndrome* / pathology
  • Sex Cord-Gonadal Stromal Tumors* / complications
  • Sex Cord-Gonadal Stromal Tumors* / diagnosis
  • Sex Cord-Gonadal Stromal Tumors* / pathology