Cowden syndrome pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

It is thought that cowden syndrome is the result caused by phosphatase and tensin homolog (PTEN) gene mutations. Cowden syndrome follows autosomal dominant pattern of inheritance.

Pathophysiology

Physiology

The normal physiology of PTEN gene can be understood as follows:

• Location of PTEN gene tracks back to 10q22-23 chromosome.
• PTEN gene is an tumor suppressor gene.
• PTEN gene whose function affects in the following:
  • Cell cycle progression
  • Cell proliferation
  • Chemotaxis
  • Apoptosis
  • Aging
  • Muscle contractility
  • DNA damage response
  • Angiogenesis and
  • Cell polarity

Genetics

Pathogenesis

• Cowden syndrome is transmitted in autosomal dominant pattern.
• Genes involved in the pathogenesis of cowden syndrome include:
• Mutations in the PTEN gene leads to oncogenesis, and somatic mutations
• Phosphatase and tensin homolog (PTEN) gene plays an important role in the following:
  • Phosphoinositide-3-kinase (PI3K)-AKT pathway and
  • Rapamycin (mTOR) signaling pathways
• PTEN track backs to 10q23 which encodes and plays a significant role in the following:
  • Effects G1 cell cycle arrest and apoptosis
  • Cellular proliferation and
  • Migration
  • Apoptosis
• Other gene mutations involved in the pathogenesis of cowden syndrome include:
  • KLLN (KILLIN) gene hypermethylation of the promoter region
  • Succinate dehydrogenase (SDH) gene mutation
  • PIK3CA gene mutation
  • AKT1 gene mutation
  • SEC23B gene mutation
  • Epidermal growth factor receptor (EGFR) gene mutation

Associated Conditions

Conditions associated with [disease name] include:

• [Condition 1]
• [Condition 2]
• [Condition 3]

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, non dysplastic epithelium, dilated glands, expanded stroma are characteristic findings of colon polyps in cowden syndrome.