DLA Molecular Pathology 1+ 2 Flashcards
What test is done to look for HER 2 overexpression in breast carcinomas
FISH
What malignancies is the FISH technique useful for?
Urothelial carcinomas, brain tumors (oligoedndrogliomas)
KRAS is an ____________ that encodes for a protein in the __________ pathway that ____________
Oncogene; EGFR; produces monoclonal antibodies against EGFR receptor that blocks downstream events
What is the effect have a mutated KRAS?
If KRAS is mutated then EGFR pathway is longer able to be blocked and so it will continue to send downstream signals
KRAS oncogene mutations are common in _____________ cancer
Colorectal
Presence of RKAS activation mutation prevents/allows response to treatment targeted at _________
Prevents; EGFR
What 3 gene mutations in non small cell lung cancers
EGFR, KRAS and ALK (anaplastic lymphoma kinase) genes
Patients with RAS mutations are _______ to TKI’s (tyrosine kinase inhibitors)
Resistant
Patients with ALK gene mutation are treated with _______
ALK inhibitor (different from someone with a RAS mutation w/ EGFR)
Patients with a mutation within the EGFR gene are treated with _______
TKI’s
40-60% of melanomas contain __________ mutation which can lead to _________ activation
BRAF; MAP kinase
What is the most common mutation that results in melanoma and why is it important
substitution of glutamic acid for valine at aa 600 (V600E)
This mutation can be treated with targeted therapy
What drugs are useful in targeted therapy for patients with melanoma w/ the BRAF V600E mutation?
Vemurafenib and Dabrafenib
The BCR (chromosome 22) and ABL (chromosome 9) genes created a chimeric BCR-ABL gene and then BCR-ABL tyrosine kinase which drives ___________ and has ____________ differentiation
Growth factor indepdent proliferation; NORMAL DIFFERENTIATION
How would the diagnosis of CML be confirmed (what test)
Double fusion FISH (D-FISH)
Or RT-PCR
