Neoplasia - 3 Flashcards by syed ahmed

Give inherited predisposition:

Retinoblastoma

Osteosarcoma

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Give inherited predisposition:

p53

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

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Give inherited predisposition:

P16/INK4A

Melanoma

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Give inherited predisposition:

APC

Familial adenomatous polyposis coli (FAP)

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Give inherited predisposition:

NF1 and 2

Neurofibromatosis type 1 and 2

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Give inherited predisposition:

BRCA1, BRCA2

Breast and ovarian tumors

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Give inherited predisposition:

MEN1

Multiple endocrine neoplasia 1

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Give inherited predisposition:

RET

Papillary thyroid carcinoma

Multiple endocrine neoplasia 2A and 2B

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Give inherited predisposition:

MSH2, MLH1, MSH6

Hereditary non polyposis colon cancer (HNPCC)

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List autosomal recessive cancers

FAX B
Fanconi Anemia
Ataxia telangiectasia
Xeroderma pigmentosum
Bloom Syndrome

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List familial cancers

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

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List the 4 classes of normal regulatory genes

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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List 7 key changes for malignant transformation

Self-sufficiency in growth signals
Insensitivity to growth-inhibitory signals
Evasion of apoptosis
Limitless replicative potential
Sustained angiogenesis
Ability to invade and metastasize
Defects in DNA repair

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

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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PDGF - beta 
Give: 
proto - oncogene
Mode of activation in tumor
Associated human tumor

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

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

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

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

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

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

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

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

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

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

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

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

Translocation: Chronic myelogenous leukemia (CML)

Point mutation: Acute lymphoblastic leukemia (ALL)

Associated neoplasm in RAS signal transduction:

Point mutation or translocation in BRAF

Melanomas

Associated neoplasm in JAK/STAT signal transduction:

JAK2

Myeloproliferative disorders

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

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

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

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

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

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

NF2 (merlin) What does it inhibit Associated neoplasms Hallmarks

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

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

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

SMAD 4 (DPC4) Give: Gene product Associated cancer

Gene product: DPC (deleted in pancreatic cancer) | Pancreatic cancer

DCC Give: Gene product Associated cancer

Gene product: DCC (deleted in colon cancer) | Colon cancer

RB (retinoblastoma protein) Function Familial syndromes Sporadic cancers

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

CDKN2A (p16/INK4a) Function Familial syndromes Sporadic cancers

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

``` VHL Protein Function Familial syndromes Sporadic cancers ```

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

``` CDH1 Protein Function Familial syndromes Sporadic cancers ```

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

TP53 Function Familial syndromes Sporadic cancers

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