Robbins Chp 7 - Neoplasia Flashcards
APC
Tumor suppressor gene
Fxn - inhibitor of WNT signaling
Familial syndrome - familial colonic polyps & carcinomas
Cancers - carcinomas of stomach, colon, pancreas, melanoma
NF1
Tumor suppressor gene
Fxn - inhibitor of RAS/MAPK signaling
Familial syndrome - neurofibromatosis type I (neurofibromas and peripheral nerve sheath tumors)
Cancers - neuroblastoma, juvenile myeloid leukemia
NF-2
Tumor suppressor gene
Protein - Merlin
Fxn - cytoskeletal stability; Hippo pathway signaling
Familial syndromes - neurofibromatosis type 2 (acoustic Schwannoma and meningioma)
Cancer - Schwannoma, meningioma
PTCH
Tumor suppressor gene Protein - Patched Fxn - inhibitor of hedgehog signaling Familial syndrome - Gorlin syndrome Cancer - basal cell carcinoma, medulloblastoma
VHL
Tumor suppressor gene
Fxn - inhibitor of hypoxia-induced transcription factors
Familial syndromes - Von Hippel Lindsay syndrome (cerebellar hamngioblastoma, retinal angiosarcoma, renal cell carcinoma)
Cancer - renal cell carcinoma
CDH1
Tumor suppressor gene
Protein - E-Cadherin
Fxn - cell adhesion, inhibition of cell motility
Familial syndromes - familial gastric cancer
Cancer - gastric carcinoma, lobular breast carcinoma
TP53
Tumors suppressor gene
Fxn - cell cycle arrest and apoptosis in response to DNA damage
Familial syndromes - Li-Fraumeni syndrome (diverse cancers)
Cancers - most human cancers
BRCA1, BRCA2
Tumor suppressor genes
Fxn - repair of double-stranded breaks in DNA
Familial syndromes - familial breast and ovarian carcinoma; carcinomas of male breasts; chronic lymphocytic leukemia (BRCA2)
Cancers - rare
MSH2, MCH1, MSH6
Tumor suppressor genes
Fxn: DNA mismatch repair
Familial syndromes - hereditary nonpolyposis colon carcinoma
Cancer - colonic and endometrial carcinoma
WT1
Tumor suppressor genes
Fxn - transcription factor
Familial syndrome - familial Wilms tumor
Cancer - Wilms tumor, certain leukemias
PDGFB
Growth factor oncogene
Fxn - platelet-derived growth factor
Mech - overexpression, autocrine loop
Tumor - astrocytoma
ERBB2 [HER2/neu]
Growth factor receptor oncogene
Fxn - epidermal growth factor receptor
Mech - amplification
Tumor - subset of breast carcinoma and gastric carcinoma
RET
Neural growth factor receptor oncogene
Mech - point mutation
Tumor - MEN2A, MEN2B and sporadic medullary carcinoma of thyroid
KIT
Stem cell growth factor receptor oncogene
Mech - point mutation
Tumor - Gi stromal tumor
RAS gene family
Special transducer oncogene
Fxn - GTP-binding protein
Mech - point mutation
Tumor - carcinomas, melanoma, and lymphoma
ABL
Special transducer oncogene
Fxn - tyrosine kinase
Mech - t(9;22) with BCR
Tumor - CML and sometimes ALL
C-MYC
Nuclear receptor oncogene
Fxn - transcription actor
Mech - t(8;14) involving IgH
Tumor - Burkitt lymphoma
N-Myc
Nuclear receptor oncogene
Fxn - transcription factor
Mech - amplification
Tumor - neuroblastoma
L-Myc
Nuclear receptor oncogene
Fxn - transcription factor
Mech - amplification
Tumor - lung carcinoma (small cell)
CCND1 (cyclin D1)
Cell cycle regulator oncogene
Fxn - cyclin
Mech - t(11;14) involving IgH
Tumor - mantle cell lymphoma
CDK4
Cell cycle regulator oncogene
Fxn - cyclin-dependent kinase
Mech - amplification
Tumor - melanoma
ALK
Gene product - receptor tyrosine kinase
Neoplasm - lung adenocarcinoma
BCL-2
Gene product - anti-apoptotic molecule
Neoplasm - follicular and diffuse B cell lymphoma
BRAF
Gene produce - serine/threonine kinase
Neoplasm - melanoma, non-Hodgkin lymphoma, papillary thyroid carcinoma
KRAS
Gene product - GTPase
Neoplasm - colon cancer, lung cancer, pancreatic cancer
Chronic myelogenous leukemia (CML) - translocation and affected gene?
(9;22) (q34;q11)
ABL 9q34
BCR 22q11
Acute myeloid leukemia (AML) - translocation and affected genes?
(8;21) (q22;q22)
(15;17)(q22;q21)
AML
Burkitt lymphoma - translocation and affected genes?
(8;14)(q24;q32)
cMYC
IgH
Mantle cell lymphoma - translocations and affected genes?
(11;14)(q13;q32)
CCND1
IgH
Follicular lymphoma - translocations and affected genes?
(14;18)(q32;q21)
IgH
BCL2
PSA serum tumor marker - indicates what cancer?
Prostate cancer
Can also be increased in BPH
LEA serum tumor marker - other name and cancer it indicates?
Carcinoembryonic Ag
Carcinomas of stomach, pancreas, colon, and breast
AFP serum tumor marker - stands for what and indicates what cancers?
Alpha-fetoprotein
Hepatocellular carcinoma, hepatoblastoma, yolk sac tumor, teratocarcinomas
HCG tumor marker indicates what cancer?
Testicular tumors and hydratidiform mole
CA-125 tumor marker indicates what cancer?
Ovarian cancer
Immunoglobulin tumor marker indicates what cancer?
Multiple myeloma, secretary plasma cell tumors
TP53 tumor marker indicates what cancer?
Bladder cancer, head/neck cancers, colon and pancreatic cancers
How do you collect samples for TP53 tumor marker?
Bladder - collect with urine
Head/neck - collect with saliva
Colon and pancreatic - collect with stool/serum
EBV is associated with what cancers?
Burkitt lymphoma, Hodgkin lymphoma, nasopharyngeal carcinoma, primary CNS lymphoma (in immunocompromised patients)
HBV, HCV is associated with what cancers?
Hepatocellular carcinoma
HHV-8 is associated with what cancers?
Kaposi sarcoma
HPV is associated with what cancers?
Cervical and penile/anal carcinoma (types 16,18), head and neck cancer
H pylori is associated with what cancers?
Gastric adenocarcinoma and MALT lymphoma
HTLV-1 is associated with what cancers?
Adult T-cell leukemia/lymphoma
Schistosomiasis naematobium is associated with what cancers?
Bladder cancer (squamous cell)
Arsenic leads to what cancers?
Lung carcinoma, skin carcinoma
Asbestos leads to what cancers?
Lung, esophageal, gastric, and colon carcinomas; mesothelioma
Benzene leads to what cancers? And is found where?
AML
Printing, lithography, paint, rubber, dry cleaning, adhesives, detergents
Beryllium leads to what cancers and is found where?
Lung carcinoma
Missile fuels, space vehicles, nuclear reactors
Cadmium leads to what cancer and is found where?
Prostate carcinoma
Yellow pigments, batteries
Chromium leads to what cancers and is found where?
Lung carcinoma
Metal alloys, pigments, preservatives
Nickel leads to what cancers?
Lung carcinoma, oropharyngeal carcinoma
Radon leads to what cancers and is found where?
Lung carcinoma
Quarries and underground mines
Vinyl chloride leads to what cancers and is found where?
Hepatic angiosarcoma
Refrigerant, adhesives for plastics, aerosal propellant, PVC pipes
In what cancers could you see Cushing Syndrome and what is the mechanism?
Small cell lung, pancreatic carcinoma, neural tumors
increased ACTH, pro-opiomelanocortin
In what cancers could you see hypercalcemia and by what mechanism?
Squamous cell carcinoma of lung, head and neck; renal, breast carcinoma, lymphoma
PTHrP
In what cancers could you see SIADH and what is the mechanism?
Small cell lung, intracranial
Increased ADH
In what cancers could you see polycythemia and what is the mechanism?
(Polycythemia = increased Hg with increase in RBC #s)
Renal cell carcinoma, cerebellar hemangioma, hepatocellular carcinoma
Increased EPO
In what cancers could you see myasthenia and what is the mechanism?
Bronchogenic carcinoma, thymic neoplasms
Abs against postsynaptic Ach receptors at NMJ
In what cancers could you see acathosis nigricans and what is the mechanism?
(Hyperpigmented velvety plaques in axilla and neck)
Gastric carcinoma, lung carcinoma, uterine carcinoma
Immunologic; secretion of epidermal growth factor
In what cancers could you see hypertrophic osteoarthropathy and clubbing of the fingers?
Bronchogenic carcinoma, thymic neoplasms
In what cancers could you see Trosseau phenomenon and what is the mechanism?
Pancreatic and bronchogenic carcinoma
Tumor products activating clotting
In what cancers could you see DIC and what is the mechanism?
AML, prostatic carcinoma
Tumor products activate clotting
In what cancers could you see non bacterial thrombotic endocarditis and what is the mechanism?
Pancreatic adenocarcinoma
Hypercoagulability
In what cancer could you see red cell aplasia?
(Anemia with low reticulocytes (immature RBCs))
Thymic neoplasms
How do tumor suppressor genes become mutated?
Need two mutations
How do oncogenes become mutated?
Only need one mutation