Neoplasia Flashcards

1
Q

PDGFB

A

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

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2
Q

ERBB2 (HER2)

A

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

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3
Q

RET

A

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

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4
Q

RAS

A

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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5
Q

ABL

A

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

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6
Q

c-MYC

A

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

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7
Q

N-MYC

A

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

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8
Q

CCND1 (cyclin D1)

A

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

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9
Q

RB (retinoblastoma)

A

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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10
Q

P53

A

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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11
Q

Li-Fraumeni Syndrome

A

*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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12
Q

NF-1

A

Hereditary neurofibromatosis

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13
Q

APC

A

Familial adenomatous polyposis

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14
Q

DCC

A

Deletion seen in colon cancer

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15
Q

WT-1

A

Function: nuclear transcription

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

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16
Q

BAX and BAK

A

Pro-apoptotic proteins

They help start process of apoptosis, killing the cell

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17
Q

BCL2

A

Normally anti-apoptotic

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

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18
Q

HNPCC (Lynch Syndrome)

A

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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19
Q

Hemochromatosis

A

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

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20
Q

Factor V Leiden

A

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

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21
Q

BRCA1

A

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

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22
Q

BRCA2

A

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

23
Q

Why Lynch Syndrome testing?

A

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
24
Q

K-RAS

A

Colon CA, small point mutations

25
Q

Beta-catenin

A

Function: WNT signal transduction

Assoc. cancer: Hepatoblastomas and HCC

26
Q

BRAF

A

Function: RAS signal transduction

Assoc. cancer: Melanomas

27
Q

Xeroderma Pigmentosa

A

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

28
Q

Ataxia Telangiectasia

A

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

29
Q

Staging a Neoplasm

A

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

30
Q

Grading of Neoplasm

A

Level of differentiation (well, moderate, or poorly)

- I to IV based on histological appearance

31
Q

Divergent Differentiation

A

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

32
Q

G6PD isoforms

A

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

33
Q

Cachexia caused by?

A

TNF-a

34
Q

Fever caused by?

A

IL-1 and TNF-a

35
Q

Flow cytometry

A

Evaluates for -ploidy

36
Q

Immunocytochemistry

A

Detects proteins with aid of specific Ab

37
Q

Flow Cytometry

A

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

38
Q

PSA

A

Prostatic epithelium (detects angiocarcinoma)

39
Q

CEA

A

Colon/pancreas/breast/gastric adenocarcinoma

40
Q

aFP

A

HCC

41
Q

Marker for rapidly growing tumors

A

Ki67

42
Q

Marker for HCC

A

AFP

43
Q

Marker for GI cancer

A

CEA

44
Q

Marker for germ cell cancers

A

b-hCG

45
Q

Defective DNA repair mechanism with susceptibility to CA (AR)

A

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

46
Q

Carcinogen in tobacco

A

Polycyclic aromatic hydrocarbons

47
Q

Carcinogen in smoked food

A

Nitroxamines and amides (gastric CA)

48
Q

Seeding

A

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

49
Q

Mediator of angiogenesis?

A

b-FGF and VEGF

50
Q

Koilocytes

A

In cervical intraepithelial neoplasia, squamous cells w/ perinuclear halo

51
Q

Melanoma

A

P16 mutation, commonly caused by UV light

52
Q

Teratoma

A

Aka Benign Dermoid Cyst

53
Q

Leukocoria

A

Cat eye reflex in retinoblastoma