Molecular Flashcards
The ETV6-NTRK3 translocation is associated with which of the following ?
t(12;15) translocation-
Congenital mesoblastic nephroma
Infantile fibrosarcoma
Salivary gland MASC
Secretory of the breast
EWSR1 rearrangement is seen in which salivary gland carcinoma
Hyalinizing clear cell carcinoma
Clear cell meningioma is associated with a germ line mutation of which of the genes ?
SMARCE1 - asso with spinal and cranial clear cell meningioma
EGFR inhibitors and resistance
Resistance to EGFR- TKIs is due to emergence of T790M mutation
What is EGFR L858R mutation associated with
Sensitivity to EGFR inhibitor
What type of mutation in GIST is associated with primary resistance to therapy with imagining?
PDGFRA D842V mutation leads to imatinib resistance…..
KIT exon 11 and 9 mutations typically have good response to imatinib.
What is the most common recurrent alteration in lung squamous cell carcinoma with a potential for targeted therapy ?
FGFR1 in 17% of squamous cell ca lung.
Rearrangement seen in Hibernoma
11q13-21 in hibernoma
Rearrangements in aneurysmal bone cyst of soft tissue
USP6 rearrangements (17p13)
Mesenchymal chondrosarcoma fusion
Head and neck of young people HEY1-NCOA2 fusion due to del(8)(q13.3q21.1).
Neurofibroma in NF 2 shoes inactivation of
CDKN2
Most common mutation in NIFTP?
RAS is most common
THADA and PAX8/PPARG also seen but less common
Mutation in which of the following genes would be expected to be present in sinonasal mucosal melanoma?
KIT 25% of mucosal melanomas , 6-8% of cutaneous and less than 1 % uveal melanomas
BAP1, GNAQ and GNA11- seen in uveal melanomas