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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) |
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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 |
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Burkitt lymphoma (high grade B-cell lymphoma)
translocation? Genes? resultant product? |
-t(8;14)
-c-MYC and IGH - over expression of proto-oncogene MYC |
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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) |
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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) |
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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) |
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what are double minutes?
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gene amplification- extra chromosomal chromatin bodies without centromeres that segregate randomly during mitosis
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What are homogenously staining regions?
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gene amplifications- expanded chromosomal regions linked to centromeres that segregate normally
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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 |
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Neuroblastoma
Genes? resultant product? therapy? |
-N-myc
-amplification of n-myc proto-oncogene (transcriptional activator-nuclear regulatory protein) -assoc with advanced stage and recurrence |
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How does loss of APC lead to what type of cancer?
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-prevents nuclear transcription (Familial polyposis coli)
-loss causes inc levels of b-catenin that allows continuos WNT signaling *stomach, pancreas and colon carcinomas |
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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 |
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NF1 gene
function? assoc cancer? |
-Neurofibromin-GAP (GTPase activation protein)- regulates signal transduction by inactivating RAS proteins
-Neurofibromatosis type 1 |
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Neurofibromatosis type 1?
|
numerous neurofiromas, optic nerve glioma, cafe au lait spots, iris hamartoma (inc risk of fibro-sarcoma)
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NF2 gene
function? assoc cancer? |
-Merlin- binds to actin and CD44
-neurofibromatosis type II (bilateral schwannoma of acoustic nerve- hearing disturbances) |
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VHL
func? assoc cancer? |
-regulates nuclear transcription
-Von-HIppel Lindau syndrome; cerebellar hemangioblastoma, retinal angioma, renal adenocarcinoma (bilateral), pheochromocytoma (bilateral) |
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PTEN
func? assoc cancer? |
-regulates nuclear transcription
-endometrial carcinoma |
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WT1
func? assoc cancer? |
-regulates nuclear transcription
-Wilms' tumor (high grade in children) |
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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%) |
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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) |
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BRCA-1
func? cancer? |
-regulates estrogen activity and co-activator of androgen receptor
-familial breast cancers, higher risk of ovarian cancer |
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BRCA-2
func? cancer? |
~recently called FANCD1 gene (fanconi anemia gene)
-male breast cancer, ovarian cancer (lesser than BRCA1) |