Week 13: Tumor profiling and testing

Question 1

What is the goal of molecular tumor profiling

Answer 1

-Used to guide/tailor ca treatment based on tumor characteristics
-Often used for metastatic cancer after standard of care has failed

Question 2

T/F Solid tumor testing can replace the need for germline testing in evaluating germline mutations

Answer 2

FALSE!!! SO FALSEEEEE

Coverage is not the same and in tumor testing, goal is to find somatic mut only

Question 3

Info about solid tumor testing

Answer 3

-Tumor block sent for testing
-Required number of tumor cells need to be present
-Reports genetic alterations within the tumor

Question 4

Liquid biopsy info

Answer 4

-Blood sample sent for testing (circulating tumor DNA)
-Less invasive
-Tumor progression

Question 5

Hematologic tumor testing info

Answer 5

-Tumor tissue, blood, or bone marrow aspirate sent for testing
-Blood is the “tumor tissue”

Question 6

Name some advantages of molecular tumor profiling

Answer 6

-Tailored cancer treatment
-Potential to detect germline mut in pts who would otherwise not meet testing criteria for germline

Question 7

Name some disadvantages for molecular tumor profiling

Answer 7

-Limited number of targeted therapies available
-Tumor heterogeneity
-Lack of consistency in variant interpretation and reporting
-Differences between lab/tests

Question 8

T/F Somatic variant interpretation is based on pathogenicity of the variant

Answer 8

False!
Somatic variant interpretation is based on potential therapeutic significance

On tumor profiling a clinical VUS could still impact treatment

Question 9

What is considered a TMB-high?

Answer 9

> 20 mut/Mb