Related Experiment Video

Updated: May 9, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

PIK3CA mutations and PTEN loss in salivary duct carcinomas

Christopher C Griffith1, Raja R Seethala, Alyssa Luvison

  • 1Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA.

The American Journal of Surgical Pathology
|July 16, 2013
PubMed

Insights

Salivary duct carcinoma (SDC) involves PIK3CA gene mutations and PTEN loss, activating the PI3K pathway. These molecular alterations provide a basis for targeted therapies in SDC patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Salivary duct carcinoma (SDC) is an aggressive cancer often diagnosed at advanced stages.
  • The phosphoinositide 3-kinase (PI3K) pathway, activated by PIK3CA mutations or PTEN loss, is a potential therapeutic target in SDC.

Purpose of the Study:

  • To investigate the frequency and types of PIK3CA mutations and PTEN loss in SDC.
  • To explore the potential for targeting the PI3K pathway in SDC treatment.

Main Methods:

  • SNaPshot polymerase chain reaction was used to detect PIK3CA mutations in exons 9 and 20.
  • Fluorescence in situ hybridization (FISH) was employed to assess PIK3CA amplification and PTEN loss.

Main Results:

  • PIK3CA mutations (p.E545K, p.E542K, p.H1047R) were found in 7 of 34 SDCs (20.5%).
  • PTEN loss was detected in 8 of 16 SDCs (50%) through various mechanisms including deletion and monosomy.
  • Two cases exhibited both PIK3CA mutation and PTEN loss, indicating these events can co-occur.

Conclusions:

  • The PI3K pathway is frequently altered in SDC through PIK3CA mutations and/or PTEN loss.
  • These molecular findings support the rationale for developing PI3K pathway-targeted therapies for SDC.

More Related Videos

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas07:00

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas

Published on: February 28, 2019

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...
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...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...