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22 Cards in this Set

  • Front
  • Back
Chronic myelogenous leukemia (CML)
translocation?
Genes?
resultant product?
therapy?
-t(9:22)
-ABL and BCR
-philadelphia chrom, excess tyrosine kinase activity (stimulates granulocyte precursor proliferation)
-imatinib meylate, gleevec (inhibits tyrosine kinase)
Acute Pro-myelocytic leukemia (APML or AML-M3)
translocation?
Genes?
resultant product?
therapy?
-t(15;17)
-PML 15q22, RARA 17q21
-RAR-PML fusion encodes a functional RAR that results in a maturation arrest of granulocytes at pro-myelocytic stage
-all-trans-retinoic acid targets func RAR, leukemic cell can then mature into neutrophils leading to clinical remission
***dz assoc with DIC
Burkitt lymphoma (high grade B-cell lymphoma)
translocation?
Genes?
resultant product?
-t(8;14)
-c-MYC and IGH
- over expression of proto-oncogene MYC
Follicular lymphoma (low grade B-cell lymphoma)
translocation?
Genes?
resultant product?
therapy?
-t(14;18)
-IGH and BCL2 (produces gene products that prevent mito leakage of cytochrome c for apoptosis)
-over expression of BCL2 (anti-apoptotic gene) "B-cell immortality"
-Hard to cure (indolent tumor)
Ewing sarcoma (high grade malignancy)
translocation?
Genes?
resultant product?
-t(11;22)
-FLI1 and EWSR1
-EWS-FLI protein (common in long bone diaphysis of children)
Mantle cell lymphoma
translocation?
Genes?
resultant product?
-t(11;14)
-FLI1 and EWSR1
-amplification of cyclin D1 (cell cycle regulator) and promotes genes from G to S phase (lymphadenopathy- submucosal polyps)
what are double minutes?
gene amplification- extra chromosomal chromatin bodies without centromeres that segregate randomly during mitosis
What are homogenously staining regions?
gene amplifications- expanded chromosomal regions linked to centromeres that segregate normally
Breast cancer (invasive ductal carcinoma of breast in 20-30%)
Genes?
resultant product?
therapy?
-ErbB2 or Her-2/NEU
-over expression of proto-oncogene ERBB2 that encodes GF receptors
-poor prognosis, trastmuzab (Herceptin)= a monoclonal AB against Her-2/NEU
Neuroblastoma
Genes?
resultant product?
therapy?
-N-myc
-amplification of n-myc proto-oncogene (transcriptional activator-nuclear regulatory protein)
-assoc with advanced stage and recurrence
How does loss of APC lead to what type of cancer?
-prevents nuclear transcription (Familial polyposis coli)
-loss causes inc levels of b-catenin that allows continuos WNT signaling
*stomach, pancreas and colon carcinomas
How does RB regulate the cell cycle?
(name 2 other things invovled)
-hypo-phosphorylated prevents replication by binding tightly to E2F (transcription factor)
-Cyclin D-CDK4 complex phosphorylates Rb at G1/S to allow E2F activation
NF1 gene
function?
assoc cancer?
-Neurofibromin-GAP (GTPase activation protein)- regulates signal transduction by inactivating RAS proteins
-Neurofibromatosis type 1
Neurofibromatosis type 1?
numerous neurofiromas, optic nerve glioma, cafe au lait spots, iris hamartoma (inc risk of fibro-sarcoma)
NF2 gene
function?
assoc cancer?
-Merlin- binds to actin and CD44
-neurofibromatosis type II
(bilateral schwannoma of acoustic nerve- hearing disturbances)
VHL
func?
assoc cancer?
-regulates nuclear transcription
-Von-HIppel Lindau syndrome; cerebellar hemangioblastoma, retinal angioma, renal adenocarcinoma (bilateral), pheochromocytoma (bilateral)
PTEN
func?
assoc cancer?
-regulates nuclear transcription
-endometrial carcinoma
WT1
func?
assoc cancer?
-regulates nuclear transcription
-Wilms' tumor (high grade in children)
INK4a/ARF
func?
mutation?
assoc cancer?
-encodes tumor suppressor genes Rb and P53
-lost capacity to block cyclin D-CDK4 activity and prevent Rb phosphorylation during cell cycle
-familial melanoma (20%), pancreatic adenoCA (50%)
Hereditary non-poyposis colon cancer syndrome (HNPCC)
[lots of polyps NOT found]
genes?
cause?
inc risk?
-MSH2, MLH1
-defect of DNA mismatch repair genes (microsatellite instability)
-familial colon carcinoma (cecum, proximal colon)
BRCA-1
func?
cancer?
-regulates estrogen activity and co-activator of androgen receptor
-familial breast cancers, higher risk of ovarian cancer
BRCA-2
func?
cancer?
~recently called FANCD1 gene (fanconi anemia gene)
-male breast cancer, ovarian cancer (lesser than BRCA1)