Brain Tumor : TP53 Deletion Analysis

Test Information

Turnaround Time

10 days

CPT Code(s)

81406

Cost

$1,000

Genes

Disorders

Clinical Information

While mutations in IDH1 have been shown to frequently occur with the 1p/19q co-deletion, mutations or LOH of TP53 have also been described in IDH1-mutant gliomas. Furthermore, TP53 alterations and the 1p/19q co-deletion are mutually exclusive events in glioma with IDH1 and 1p/19q found in oligodendroglial neoplasms while IDH1 and TP53 changes are concomitantly seen in astrocytomas. TP53 changes are reported in astrocytomas at a frequency of ~60% and are seen in over 90% of cases in which an individual is positive for an IDH1 change and negative for 1p/19q co-deletion. It should also be noted that TP53 mutations have been reported in IDH1-wild type (WT) lower-grade gliomas at a frequency of 14%. While TP53 is known to be frequently mutated and/or overexpressed in astrocytoma, there is little prognostic value from this finding in contrast to what is known in regards to IDH1-mutant /1p-19q co-deleted cases (Biomed Research International (2017): 8013575).

Indications

Gene sequencing and targeted mutation testing and copy number analysis can serve as a useful diagnostic and potentially prognostic tool for the analysis of affected tissues or tumors. The detection of copy number variants or specific gene mutations may enhance treatment decisions.

Specimen Requirements

Analysis can be performed on fresh or frozen tissue samples as well as formalin-fixed, paraffin-embedded tissue samples.

Transport Instructions

The specimen should be kept at the appropriate temperature and delivered via overnight shipping.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Oncology Testing, Targeted Variants
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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