Molecular Flashcards
Translocation in epithelioid hemangioendothelioma
t(1;3) WWTR1-CAMTA1 gene fusion
Leukemia with BRAFV600E
Hairy cell leukemia
AML with t(8;21)
RUNX1
Translocation infantile fibrosarcoma
t(12;15) fusion ETV6-NTRK3
MEN-1 syndrome
Parathyroid hyperplasia
Pituitary adenoma
Pancreatic islet cell tumor
Alveolar soft part sarcoma
DerXt(X;17) TFE3-ASPL
Clear cell sarcoma (melanoma of Soft Parts)
t(12;22) EWSR1-ATF1
Or alternate fusion t(2;22) EWSR1-CREB1
Desmoplastic small round blue cell tumor
t(11;22) EWS-WT1
What are the minimum genes that must be tested in lung adenocarcinoma?
EGFR, ALK, ROS1
what salivary gland neoplasm shows EWSR1-ATF1 fusion?
hyalinizing clear cell carcinoma
what salivary gland neoplasm shows translocations in PLAG1 or HMGA2?
PA
what salivary gland neoplasm shows t(11;19) MAML2 rearrangement
mucoep
what salivary gland neoplasm shows t(6;9) leading to MYB overexpression?
adenoid cystic
what salivary gland neoplasm shows ETV6-NTRK3 fusino due to t(12;15)?
Mammary carcinoma
Name 2 egfr mutations associated with sensitivity to TKIs gefitinib and erlotinib
Exon 19 deletions
Missense exon 21 (L858R)
Name 2 egfr mutations with resistance to TKIs
Deletions in exon 20
T790M
What is alagille syndrome and what gene is mutated?
Bile duct paucity
May also have cardiac abnormalities
JAG1 gene
Which RNA pol produces mRNA
RNA pol II
Amount of DNA produced under optimal PCR conditions
2^n
10 fold amplification every 3.3 cycles (2^3.3=10)
Which cytochrome p450 affects metabolism of codeine and tricyclic antidepressants?
CYP2D6
Which cytochrome p450 affects metabolism of warfarin and phenytoin?
CYP2C9
What is caroli disease
Segmental dilation of intraheptic bile ducts, recurrent stone formation and bacterial cholangitis
2 features of schwachman-diamond syndrome
Marrow failure
Exocrine pancreatic insufficiency
Genetic finding in meningioma
Monosomy chr 22
genetic finding in embryonal rhabdomyosarcoma
11p15 LOH
