Function: regulates progression of cell cycle from G1-S; will slow cell cycle in order to fix DNA damage - if repair isn't possible, P53 induces apoptosis by upregulating BAX which disrupts Bcl2 then cytochrome c released from mitochondria then caspases and apoptosis etc. both copies must be knocked out

Neoplasia Flashcards by Shelbi Swyden

PDGFB

Function: platelet-derived growth factor
Mutation: over expression, autocrine loop
Assoc. cancer: Astrocytoma

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ERBB2 (HER2)

Function: epidermal growth factor receptor
Mutation: amplification
Assoc. cancer: breast carcinomas

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RET

Function: neural growth factor receptor
Mutation: point mutation
Assoc. cancer: MEN 2A, MEN 2B, sporadic medullary carcinoma of thyroid

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RAS

Function: GTP-binding protein (shuts off signal transduction)
Mutation: point mutation
Assoc. cancer: carcinomas, melanoma, lymphoma
*most common mutation in human cancers

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ABL

Function: tyrosine kinase
Mutation: t(9;22) with BCR
Assoc. cancer: CML and some ALLs

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c-MYC

Function: transcription factor
Mutation: t(8;14)
Assoc. cancer: Burkitt Lymphoma

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N-MYC

Function: transcription factor
Mutation: amplification
Assoc. cancer: neuroblastoma

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CCND1 (cyclin D1)

Function: cyclin
Mutation: t(11;14) involving IgH
Assoc. cancer: mantle cell lymphoma

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RB (retinoblastoma)

Function: holds transcription factor E2F (necessary for G1-S transition)
Mutation: frees E2F and leads to proliferation
Assoc. cancer: retinoblastoma and osteosarcoma

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P53

Function: regulates progression of cell cycle from G1-S; will slow cell cycle in order to fix DNA damage

if repair isn’t possible, P53 induces apoptosis by upregulating BAX which disrupts Bcl2 then cytochrome c released from mitochondria then caspases and apoptosis etc.
both copies must be knocked out

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Li-Fraumeni Syndrome

*Germline mutation of p53, and second hit is somatic mutation of p53
ROS: propensity to develop multiple types of carcinomas and sarcomas

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NF-1

Hereditary neurofibromatosis

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APC

Familial adenomatous polyposis

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DCC

Deletion seen in colon cancer

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WT-1

Function: nuclear transcription

Assoc. cancer: Wilm’s Tumor (mixed tumor from 1 germ layer)

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BAX and BAK

Pro-apoptotic proteins

They help start process of apoptosis, killing the cell

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BCL2

Normally anti-apoptotic

- keeps mitochondrial membrane stable; so increase in BCL2 will further inhibit apoptosis in tumors

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HNPCC (Lynch Syndrome)

Mutation: MSH-2, MLH-1, MLH-6, PMS-2
Nml function: DNA mismatch repair (MMR) genes
Mechanism: MMR fails, and microsatellite instability (MSI) is the result
ROS: young age @ dx, tumors in R colon, also tumors in endometrium/ovary/stomach/SI/ureter/kidney

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Hemochromatosis

Mutation: HFE gene
Mechanism: mutation causes excessive iron absorption and deposition
ROS: cirrhosis, bronze DM, heart dz, chronic fatigue, arthritis

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Factor V Leiden

Mechanism: mutation changes factor V making it resistant to inactivation by protein C
ROS: thrombophilia and venous thromboembolism

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BRCA1

Long arm chromosome 17q21
Function: DNA repair
*mutation = increased risk for breast and ovarian ca

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BRCA2

Long arm chromosome 13q12.3
Function: DNA repair
*mutation = increased risk for breast

Why Lynch Syndrome testing?

Individual w/ mutation has 80% chance of dev colorectal or endometrial ca

colonoscopy every 1-3 yrs @ 20-25yo
transvag US w/ FNA
colectomy and/or hysterectomy

K-RAS

Colon CA, small point mutations

Beta-catenin

Function: WNT signal transduction | Assoc. cancer: Hepatoblastomas and HCC

BRAF

Function: RAS signal transduction | Assoc. cancer: Melanomas

Xeroderma Pigmentosa

*AR Mutation: ? Assoc. cancer: squamous cell carcinoma

Ataxia Telangiectasia

*AR Mutation: ? Assoc. cancer: ALL, lymphomas

Staging a Neoplasm

Extent of spread, stage is greatest prognostic value T: size of tumor N: involvement of lymph nodes M: metastasis *(most important factor)

Grading of Neoplasm

Level of differentiation (well, moderate, or poorly) | - I to IV based on histological appearance

Divergent Differentiation

Mixed cell tumors (Wilm's Tumor and Parotid Adenoma)

G6PD isoforms

Indicates clonality, in neoplasia there is only one isoform of G6PD but in hyperplasia there is >1 *(1 isoform = neoplasia)

Cachexia caused by?

TNF-a

Fever caused by?

IL-1 and TNF-a

Flow cytometry

Evaluates for -ploidy

Immunocytochemistry

Detects proteins with aid of specific Ab

Flow Cytometry

Cell suspension stained w/ fluorescent surface markers detected using Ab's and sorted by size and fluorescent intensity - characterizes lymphoma/leukemia

PSA

Prostatic epithelium (detects angiocarcinoma)

CEA

Colon/pancreas/breast/gastric adenocarcinoma

aFP

HCC

Marker for rapidly growing tumors

Ki67

Marker for HCC

AFP

Marker for GI cancer

CEA

Marker for germ cell cancers

b-hCG

Defective DNA repair mechanism with susceptibility to CA (AR)

Xeroderma pigmentosa (sq cell CA), Ataxia Telengiectasia (ALL), Franconi's Anemia (AML)

Carcinogen in tobacco

Polycyclic aromatic hydrocarbons

Carcinogen in smoked food

Nitroxamines and amides (gastric CA)

Seeding

Body cavity so e.g. - ovarian tumor seeing to omentum

Mediator of angiogenesis?

b-FGF and VEGF

Koilocytes

In cervical intraepithelial neoplasia, squamous cells w/ perinuclear halo

Melanoma

P16 mutation, commonly caused by UV light

Teratoma

Aka Benign Dermoid Cyst

Leukocoria

Cat eye reflex in retinoblastoma