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

The exact pathogenesis of [disease name] is not fully understood.

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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.

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[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

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Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

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[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

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The progression to [disease name] usually involves the [molecular pathway].

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The pathophysiology of [disease/malignancy] depends on the histological subtype.

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.