PTEN loss is associated with follicular variant of Middle Eastern papillary thyroid carcinoma

S Beg1, A K Siraj1, Z Jehan1

  • 1Human Cancer Genomic Research, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

Abstract

Insights

PTEN gene alterations are common in papillary thyroid cancer (PTC), particularly the follicular variant. Loss of PTEN protein expression, often without gene deletion, suggests other inactivation mechanisms may be involved in PTC development.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The PTEN gene, a crucial tumor suppressor, is frequently inactivated in various cancers.
  • Mechanisms of PTEN inactivation include mutation, methylation, and deletion.
  • PTEN's specific role in papillary thyroid carcinoma (PTC) remains incompletely understood.

Purpose of the Study:

  • To investigate PTEN alterations in a large cohort of Middle Eastern papillary thyroid cancer patients.
  • To analyze PTEN protein expression and gene copy number changes.
  • To correlate PTEN alterations with clinicopathological features and patient survival.

Main Methods:

  • Immunohistochemistry (IHC) on a tissue microarray (TMA) of over 1000 PTC samples to assess PTEN protein expression.
  • Fluorescent in situ hybridization (FISH) to detect PTEN gene copy number alterations.
  • Statistical analysis correlating PTEN status with clinicopathological parameters and survival data.

Main Results:

  • PTEN protein loss (complete absence of staining) was observed in 24.5% of PTC samples.
  • PTEN gene deletion was detected in only 4.8% of samples via FISH.
  • PTEN loss of expression showed a significant association with the follicular variant of PTC, but not with gene deletion.

Conclusions:

  • PTEN plays a role in the pathogenesis of a subset of PTC.
  • Loss of PTEN protein expression is more prevalent in the follicular variant of PTC.
  • The lack of correlation between PTEN loss and gene deletion suggests alternative inactivation mechanisms, such as promoter methylation, may be involved.

Related Concept Videos

Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
6.4K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

2.1K
The Thyroid Gland01:23

The Thyroid Gland

The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
9.0K
Papillary Dermis01:11

Papillary Dermis

Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen...
6.9K