Molecular Pathology Laboratory Network

PTEN/CEP10 deletion 10q23.3

Test Code
F PTEN
Test Synonyms
PTEN, del(10)(q23.3), phosphatase and tensin homolog
Associations
Breast cancer, endometrial carcimomas, glioblastoma
Methodology
Fluorescence in situ Hybridization (FISH)
CPT Codes
88368 x2 - Morphometric analysis, in situ hybridization, manual
Turnaround Time
3 days
Specimen Requirements
10% neutral buffered formalin fixed paraffin embedded tissue
Specimen Stability
Paraffin blocks stable at 18-25°C
Storage & Handling
Ship in a Styrofoam container with an cool/refrigerated pack. (Do not allow cool/refrigerated pack to directly contact sample.)
Causes for Rejection
Improper fixative; Tissue not fixed; Insufficient tissue; Specimen exposed to extreme temperature
Reference Range
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.
Description
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.
References
Eng, Charis. (2003). Human Mutation. 22:183-198.

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