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PP personal > Neoplasia - 3 > Flashcards

Neoplasia - 3 Flashcards

1
Q

Give inherited predisposition:

RB

A

Retinoblastoma

Osteosarcoma

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2
Q

Give inherited predisposition:

p53

A

Li fraumeni syndrome (Leukemias, adrenal glands, breast, sarcomas - LABS)
She said SBLA

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3
Q

Give inherited predisposition:

P16/INK4A

A

Melanoma

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4
Q

Give inherited predisposition:

APC

A

Familial adenomatous polyposis coli (FAP)

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5
Q

Give inherited predisposition:

NF1 and 2

A

Neurofibromatosis type 1 and 2

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6
Q

Give inherited predisposition:

BRCA1, BRCA2

A

Breast and ovarian tumors

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7
Q

Give inherited predisposition:

MEN1

A

Multiple endocrine neoplasia 1

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8
Q

Give inherited predisposition:

RET

A

Papillary thyroid carcinoma

Multiple endocrine neoplasia 2A and 2B

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9
Q

Give inherited predisposition:

MSH2, MLH1, MSH6

A

Hereditary non polyposis colon cancer (HNPCC)

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10
Q

List autosomal recessive cancers

A 
FAX B
Fanconi Anemia
Ataxia telangiectasia
Xeroderma pigmentosum
Bloom Syndrome
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11
Q

List familial cancers

A

If it’s familial you gonna get BOPped
Breast cancer
Ovarian cancer
Pancreatic cancer

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12
Q

List the 4 classes of normal regulatory genes

A

growth-promoting proto-oncogenes
growth-inhibiting tumor suppressor genes
genes that regulate programmed cell death (apoptosis)
genes involved in DNA repair

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13
Q

List 7 key changes for malignant transformation

A
  1. Self-sufficiency in growth signals
  2. Insensitivity to growth-inhibitory signals
  3. Evasion of apoptosis
  4. Limitless replicative potential
  5. Sustained angiogenesis
  6. Ability to invade and metastasize
  7. Defects in DNA repair
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14
Q

Define:
Oncogene
Proto - oncogene
Oncoprotein (give 2 features)

A

Oncogene - Genes that promote autonomous cell growth in cancer cells

Proto - oncogene - unmutated cellular counterparts of oncogenes

Oncoprotein - products of oncogenes

  • devoid of important internal regulatory elements
  • their production in the transformed cells does not depend on growth factors or other external signals
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15
Q 
PDGF - beta 
Give: 
proto - oncogene
Mode of activation in tumor
Associated human tumor
A

proto - oncogene: PDGF
Mode of activation in tumor: overexpression
Associated human tumor: Astrocytoma

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16
Q 
EGF receptor family 
Give: 
proto - oncogene
Mode of activation in tumor
Associated human tumor
A

proto - oncogene: ERBB2 (HER)
Mode of activation in tumor: Amplification
Associated human tumor: Breast carcinoma

17
Q 
Receptor for neurotrophic factors
Give: 
proto - oncogene
Mode of activation in tumor
Associated human tumor
A

proto - oncogene: RET
Mode of activation in tumor: Point mutation
Associated human tumor: MEN 2A and 2B, familial medullary thyroid carcinomas

18
Q 
Receptor for KIT ligand
Give: 
proto - oncogene
Mode of activation in tumor
Associated human tumor
A

proto - oncogene: c-KIT
Mode of activation in tumor: Point mutation
Associated human tumor: Gastrointestinal stromal tumor (GIST)

19
Q 
ALK receptor
Give: 
proto - oncogene
Mode of activation in tumor
Associated human tumor
A

proto - oncogene: ALK
Mode of activation in tumor: Translocation,
Fusion gene formation
Associated human tumor: Adenocarcinoma of lung

20
Q

Associated neoplasm in GTP binding proteins:
Point mutation in K-RAS
Point mutation in H-RAS
Point mutation in N-RAS

A

K-RAS: Colon, lung and pancreatic tumors
H-RAS: Bladder & Kidney tumors
N-RAS: Melanomas, hematologic malignancies

21
Q

Associated neoplasm in non receptor tyrosine kinase:
Translocation in ABL
Point mutation in ABL

A

Translocation: Chronic myelogenous leukemia (CML)

Point mutation: Acute lymphoblastic leukemia (ALL)

22
Q

Associated neoplasm in RAS signal transduction:

Point mutation or translocation in BRAF

A

Melanomas

23
Q

Associated neoplasm in JAK/STAT signal transduction:

JAK2

A

Myeloproliferative disorders

24
Q

Prototype example: MYC oncogene
Translation in MYC
Amplification in N-MYC
Amplification in L-MYC

A

Translation MYC - Burkitts lymphoma
Amplification N-MYC: neuroblastoma
Amplification L-MYC: small-cell cancers of the lung

25
Q

APC (adenomatous polyposis coli protein)
What does it inhibit
Associated neoplasms
Hallmarks

A

Inhibits: WNT signaling
Familial colonic polyps and carcinomas
Hallmarks: carcinomas of stomach, colon, pancreas

26
Q

NF1 (Neurofibromin-1)
What does it inhibit
Associated neoplasms
Hallmarks

A

Inhibits: RAS/MAPK signaling
Neurofibromatosis type 1 (neurofibromas and malignant peripheral nerve sheath tumors
Hallmarks: neuroblastomas, juvenile myeloid leukemia

27
Q

NF2 (merlin)
What does it inhibit
Associated neoplasms
Hallmarks

A

Inhibit (?): cytoskeletal stability, hippo pathway signaling
Neurofibromatosis type 2 (acoustic schwannoma and meningioma)
Hallmarks: schwannoma, meningioma

28
Q

PTEN (phosphatase and tensin homologue)
What does it inhibit
Associated neoplasms
Hallmarks

A

Inhibits: PI3K/AKT signaling
Cowden syndrome (variety of benign skin, GI, and CNS growths; breast, endometrial and thyroid carcinoma)
Hallmarks: Diverse cancers; particularly carcinomas and lymphoid tumors

29
Q

SMAD 4 (DPC4)
Give:
Gene product
Associated cancer

A

Gene product: DPC (deleted in pancreatic cancer)

Pancreatic cancer

30
Q

DCC
Give:
Gene product
Associated cancer

A

Gene product: DCC (deleted in colon cancer)

Colon cancer

31
Q

RB (retinoblastoma protein)
Function
Familial syndromes
Sporadic cancers

A

Function: Inhibits G1/S transition during cell cycle progression
Familial: Retinoblastoma syndrome (Retinoblastoma, osteosarcoma, other sarcomas)
Sporadic: Retinoblastoma, osteosarcoma, carcinomas of breast, colon, lung

32
Q

CDKN2A (p16/INK4a)
Function
Familial syndromes
Sporadic cancers

A

Inhibit: negative regulator of cyclin dependent kinases
Familial: Familial melanoma
Sporadic: Pancreatic carcinoma, melanoma

33
Q 
VHL 
Protein
Function
Familial syndromes
Sporadic cancers
A

Protein: von hippel lindau protein
Function: Inhibitor of hypoxia induced transcription factors (i.e. HIF1alpha)
Familial: VHL syndrome (cerebellar hemangioblastoma, retinal angioma, renal cell carcinoma)
Sporadic: Renal cell carcinoma

34
Q 
CDH1 
Protein
Function
Familial syndromes
Sporadic cancers
A

Protein: E-cadherin
Function: Cell adhesion, inhibition of cell motility
Familial: Familial gastric cancer
Sporadic: Gastric, lobular breast carcinomas

35
Q

TP53
Function
Familial syndromes
Sporadic cancers

A

Protein: p53 protein
Function: Cell cycle arrest and apoptosis in response to DNA damage
Familial: Li-Fraumeni syndrome
Sporadic: Most human cancers

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