PTEN, del(10)(q23.3), phosphatase and tensin homolog
Breast cancer, endometrial carcimomas, glioblastoma
Fluorescence in situ Hybridization (FISH)
88368 x2 - Morphometric analysis, in situ hybridization, manual
10% neutral buffered formalin fixed paraffin embedded tissue
Paraffin blocks stable at 18-25°C
Ship in a Styrofoam container with an cool/refrigerated pack. (Do not allow cool/refrigerated pack to directly contact sample.)
Improper fixative; Tissue not fixed; Insufficient tissue; Specimen exposed to extreme temperature
In a normal cell with two intact copies of chromosome 10, two green and two orange signals is observed. In an abnormal cell with a deletion of the PTEN (10q23) gene region, fewer than two orange signals are observed.
PTEN, on 10q23.3, encodes a major lipid phosphatase that signals down the phosphoinositol-3-kinase/Akt pathway and effects G1 cell cycle arrest and apoptosis. Germline PTEN mutations have been found to occur in 80% of classic Cowden syndrome (CS).
CS is a heritable multiple hamartoma syndrome with a high risk of breast, thyroid and endometrial carcinomas. Genotype–phenotype association analyses have revealed the presence of germline PTEN mutations is associated with breast tumor development. Somatic PTEN mutations occur with a wide distribution of frequencies in sporadic primary tumors, with the highest frequencies in endometrial carcinomas and glioblastoma multiform.
Eng, Charis. (2003). Human Mutation. 22:183-198.