Related Experiment Video
Updated: May 23, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Cowden syndrome: report of two cases with immunohistochemical analysis for PTEN expression
Saba Zabetian1, Darius Mehregan
1Wayne State University School of Medicine, Detroit, MI 48124, USA.
Abstract:
Cowden syndrome (CS) is a rare autosomal dominant disorder characterized by multisystem hamartomatous growths and carcinomas. CS is linked to germ line mutations in PTEN (phosphatase and tensin homolog) located on chromosome 10q23.3. PTEN acts as a tumor suppressor to negatively control cellular growth and survival via the PI3K/AKT signaling pathway. Presented here are 2 patients with multiple, persistent, and asymptomatic papules on the face and the upper body, histologically consistent with trichilemmomas. Diagnosis of CS was made in each case based on the established diagnostic criteria and confirmed using immunohistochemistry directed against PTEN. We propose that the assessment of PTEN expression levels can aid in the identification of patients with CS.
Related Concept Videos
Cushing Syndrome II: Pathophysiology
Catenins
Catenins in Cell Junctions
Catenins bind to cell adhesion molecules such as cadherins and link them to different cytoskeletal proteins depending on the type of cell junction. At the adherens...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cadherins in Tissue Organization
Cell Sorting During Development
Cell sorting plays an...

