Gastric-type endocervical glandular neoplasms associated with aberrant p16 expression and K-RAS gene mutation in Peutz-Jeghers syndrome

Pathol Int. 2014 Jun;64(6):283-8. doi: 10.1111/pin.12173.

Abstract

In this report, unique endocervical glandular lesions exhibiting gastric differentiation were examined in a patient with Peutz-Jeghers syndrome. The result of the human papillomavirus (HPV) in situ hybridization (ISH) for the hysterectomy specimens was negative, but they demonstrated a papillary mucinous adenocarcinoma at the proximal endocervix continuous to atypical lobular endocervical glandular hyperplasia. Both contained MUC6-positive neutral mucin in cytoplasm, and showed different immunoreactivity to p16, Ki-67, and p53. Moreover, they harbored the identical K-RAS gene mutation suggesting that there was a common origin. Somatic K-RAS mutation and defective function of p16 may have been involved in the tumorigenesis of these unusual mucinous neoplasms.

Keywords: K-RAS; Peutz-Jeghers syndrome; cervical adenocarcinoma; lobular endocervical glandular hyperplasia; p16.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma, Mucinous / complications
  • Adenocarcinoma, Mucinous / genetics
  • Adenocarcinoma, Mucinous / metabolism
  • Adenocarcinoma, Mucinous / pathology*
  • Cyclin-Dependent Kinase Inhibitor p16
  • Female
  • Humans
  • Mutation
  • Neoplasm Proteins / metabolism*
  • Peutz-Jeghers Syndrome / complications
  • Peutz-Jeghers Syndrome / genetics
  • Peutz-Jeghers Syndrome / metabolism
  • Peutz-Jeghers Syndrome / pathology*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism*
  • Proto-Oncogene Proteins p21(ras)
  • Uterine Cervical Neoplasms / complications
  • Uterine Cervical Neoplasms / genetics
  • Uterine Cervical Neoplasms / metabolism
  • Uterine Cervical Neoplasms / pathology*
  • Young Adult
  • ras Proteins / genetics
  • ras Proteins / metabolism*

Substances

  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • KRAS protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins p21(ras)
  • ras Proteins