J Genet Med.  2016 Jun;13(1):55-58. 10.5734/JGM.2016.13.1.55.

A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members

• Kim YM
• Kim MK

• KMID: 2327705
• DOI: http://doi.org/10.5734/JGM.2016.13.1.55

Abstract

Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant hereditary condition that increases the risk of cancer, particularly in the colon and endometrium. Mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) increase the risk of LS. Reported PMP cases with hereditary gene mutations of unknown significance are also rare. Here, we investigated a PMP patient and her family members, who have an MSH2 variant of unknown significance. Physicians have an important role in counseling, management, and surveillance based on genetics and pathogenicity.

Keyword

Pseudomyxoma peritonei; Lynch syndrome; Germ-line mutation

MeSH Terms

Appendix
Colon
Colorectal Neoplasms, Hereditary Nonpolyposis
Counseling
DNA Mismatch Repair
Endometrium
Female
Genetics
Germ-Line Mutation
Humans
Ovary
Pseudomyxoma Peritonei*
Virulence