Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma

Head Neck. 2014 Jan;36(1):E12-6. doi: 10.1002/hed.23420. Epub 2013 Oct 16.

Abstract

Background: Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.

Methods: The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43-year-old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.

Results: Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.

Conclusion: The coexistence of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis.

Keywords: Cowden-like syndrome; neck paraganglioma; papillary thyroid cancer; pituitary adenoma; prolactinoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Biopsy, Needle
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Germ-Line Mutation
  • Hamartoma Syndrome, Multiple / diagnosis*
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / surgery
  • Head and Neck Neoplasms / diagnosis*
  • Head and Neck Neoplasms / genetics
  • Head and Neck Neoplasms / surgery
  • Humans
  • Immunohistochemistry
  • Magnetic Resonance Imaging / methods
  • Middle Aged
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / surgery
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / surgery
  • Paraganglioma / diagnosis*
  • Paraganglioma / genetics
  • Paraganglioma / surgery
  • Pituitary Neoplasms / diagnosis*
  • Pituitary Neoplasms / genetics
  • Pituitary Neoplasms / surgery
  • Rare Diseases
  • Tomography, X-Ray Computed / methods
  • Ultrasonography, Doppler

Supplementary concepts

  • Cowden-Like Syndrome