Lab Med Online.  2023 Jul;13(3):165-171. 10.47429/lmo.2023.13.3.165.

Cowden Syndrome: A Review

• Jung YR
• Jun JY
• Lee S
• Ryu KH
• Lee DO
• Chang YJ
• Jung SY
• Kong SY

• KMID: 2552740
• DOI: http://doi.org/10.47429/lmo.2023.13.3.165

Abstract

Cowden syndrome is a rare autosomal dominant genetic disease, with an estimated prevalence of 1/200,000 with majority of PTEN germline mutation. Diagnostic criteria of Cowden syndrome have been changed and several disease criteria were included. Herein, we described Cowden syndrome related disease, and it would be helpful to review this rare disease when the patients come for genetic counseling.

Keyword

Cowden syndrome; PTEN ; PTEN hamartoma syndrome; Genetic counseling

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