Robbins Chp 7 - Neoplasia Flashcards by Mikayla Knaebel

APC

Tumor suppressor gene
Fxn - inhibitor of WNT signaling
Familial syndrome - familial colonic polyps & carcinomas
Cancers - carcinomas of stomach, colon, pancreas, melanoma

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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

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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

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PTCH

Tumor suppressor gene
Protein - Patched
Fxn - inhibitor of hedgehog signaling
Familial syndrome - Gorlin syndrome
Cancer - basal cell carcinoma, medulloblastoma

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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

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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

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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

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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

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MSH2, MCH1, MSH6

Tumor suppressor genes
Fxn: DNA mismatch repair
Familial syndromes - hereditary nonpolyposis colon carcinoma
Cancer - colonic and endometrial carcinoma

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WT1

Tumor suppressor genes
Fxn - transcription factor
Familial syndrome - familial Wilms tumor
Cancer - Wilms tumor, certain leukemias

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PDGFB

Growth factor oncogene
Fxn - platelet-derived growth factor
Mech - overexpression, autocrine loop
Tumor - astrocytoma

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ERBB2 [HER2/neu]

Growth factor receptor oncogene
Fxn - epidermal growth factor receptor
Mech - amplification
Tumor - subset of breast carcinoma and gastric carcinoma

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RET

Neural growth factor receptor oncogene
Mech - point mutation
Tumor - MEN2A, MEN2B and sporadic medullary carcinoma of thyroid

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KIT

Stem cell growth factor receptor oncogene
Mech - point mutation
Tumor - Gi stromal tumor

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RAS gene family

Special transducer oncogene
Fxn - GTP-binding protein
Mech - point mutation
Tumor - carcinomas, melanoma, and lymphoma

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ABL

Special transducer oncogene
Fxn - tyrosine kinase
Mech - t(9;22) with BCR
Tumor - CML and sometimes ALL

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C-MYC

Nuclear receptor oncogene
Fxn - transcription actor
Mech - t(8;14) involving IgH
Tumor - Burkitt lymphoma

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N-Myc

Nuclear receptor oncogene
Fxn - transcription factor
Mech - amplification
Tumor - neuroblastoma

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L-Myc

Nuclear receptor oncogene
Fxn - transcription factor
Mech - amplification
Tumor - lung carcinoma (small cell)

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CCND1 (cyclin D1)

Cell cycle regulator oncogene
Fxn - cyclin
Mech - t(11;14) involving IgH
Tumor - mantle cell lymphoma

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CDK4

Cell cycle regulator oncogene
Fxn - cyclin-dependent kinase
Mech - amplification
Tumor - melanoma

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ALK

Gene product - receptor tyrosine kinase

Neoplasm - lung adenocarcinoma

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BCL-2

Gene product - anti-apoptotic molecule

Neoplasm - follicular and diffuse B cell lymphoma

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BRAF

Gene produce - serine/threonine kinase

Neoplasm - melanoma, non-Hodgkin lymphoma, papillary thyroid carcinoma

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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