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General Principles of Medicine > High Yield Oncogenes and Tumor Suppressor Genes > Flashcards

High Yield Oncogenes and Tumor Suppressor Genes Flashcards

1
Q

What is the gene BCR-ABL associated with?

A

Function: Non-receptor tyrosine kinase
Diseases: Chronic Myeloid Leukemia (CML), translocation t(9;22)

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2
Q

What is the function of the BRAF gene, and which diseases are linked to it?

A

Function: Serine/threonine kinase
Diseases: Melanoma, Hairy cell leukemia

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3
Q

Which gene is involved in Polycythemia Vera and what is its function?

A

Gene: JAK2
Function: Non-receptor tyrosine kinase

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4
Q

The MYC gene is a transcription factor. What disease is it associated with?

A

Disease: Burkitt lymphoma, translocation t(8;14)

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5
Q

BCL-2 inhibits apoptosis. Which lymphoma is it linked to?

A

Disease: Follicular lymphoma, translocation t(14;18)

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6
Q

What diseases are linked to overexpression of HER2/neu?

A

Function: Receptor tyrosine kinase (intracellular)
Diseases: Breast cancer, Gastric cancer

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7
Q

CCND1 regulates which cell cycle protein and is associated with which lymphoma?

A

Function: Cyclin D
Disease: Mantle cell lymphoma, translocation t(11;14)

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8
Q

Which proto-oncogene encodes a GTPase involved in colorectal and pancreatic adenocarcinoma?

A

Gene: KRAS
Diseases: Colorectal adenocarcinoma, Pancreatic adenocarcinoma

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9
Q

What is the function of APC/β-catenin, and which conditions are associated with its mutation?

A

Function: Wnt signaling
Diseases: Colorectal adenocarcinoma, Familial adenomatous polyposis

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10
Q

BRCA1 and BRCA2 are involved in which critical cellular process? Name the related cancers.

A

Function: DNA repair
Diseases: Breast cancer, Ovarian cancer

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11
Q

TP53 is a major checkpoint regulator. What syndrome and cancers are linked to it?

A

Diseases: Li-Fraumeni syndrome, Various other cancers

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12
Q

Mutations in RB lead to which cancers? What is its cellular role?

A

Function: Checkpoint regulator
Diseases: Retinoblastoma, Osteosarcoma

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13
Q

VHL is involved in degrading hypoxia-inducible factor 1a. Which diseases are linked to it?

A

Diseases: Renal cell carcinoma, Von Hippel-Lindau syndrome

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14
Q

The WT1 gene plays a role in urogenital differentiation. Which tumor is associated with it?

A

Disease: Wilms tumor (Nephroblastoma)

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15
Q

What is the key difference in mutation requirements between proto-oncogenes and tumor suppressor genes in cancer pathogenesis?

A

Proto-oncogene: Requires a “1-hit” gain of function mutation to become an oncogene → ↑↑ Growth, uncontrolled proliferation
Tumor suppressor gene: Requires “2-hit” loss of function mutations → ↑↑ Growth, uncontrolled proliferation

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16
Q

What gene mutation is associated with Chronic Myeloid Leukemia (CML)?

A

BCR-ABL (Philadelphia chromosome, t(9;22))

The BCR-ABL fusion gene results in a non-receptor tyrosine kinase that drives the pathogenesis of CML.

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17
Q

What are the clinical features of Chronic Myeloid Leukemia (CML)?

A

Fatigue, night sweats, weight loss, splenomegaly, early satiety, easy bruising

These symptoms are common due to the overproduction of myeloid cells.

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18
Q

What is the prognosis for Chronic Myeloid Leukemia (CML) with targeted therapy?

A

Good with targeted therapy; risk of progression to blast crisis if untreated

Targeted therapies significantly improve the prognosis of patients with CML.

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19
Q

What treatment options are available for Chronic Myeloid Leukemia (CML)?

A

Tyrosine kinase inhibitors (TKIs) like imatinib, dasatinib, nilotinib; bone marrow transplant in resistant cases

TKIs are the first-line treatment for CML, while bone marrow transplant is considered for resistant cases.

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20
Q

What proto-oncogene is involved in melanoma?

A

BRAF (often V600E mutation)

The BRAF mutation plays a critical role in melanoma progression.

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21
Q

What are the symptoms of melanoma?

A

Asymmetrical mole with irregular borders, color variation, diameter >6mm, evolving lesion

These characteristics are part of the ABCDE criteria for melanoma detection.

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22
Q

How does the prognosis of melanoma depend on the depth of invasion?

A

Depends on depth of invasion (Breslow thickness); metastatic disease has poor prognosis without treatment

Breslow thickness is a critical factor in determining melanoma prognosis.

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23
Q

What treatments are available for melanoma?

A

Surgical excision, immune checkpoint inhibitors (nivolumab, pembrolizumab), BRAF inhibitors (vemurafenib) for advanced disease

Treatment options vary based on the stage and characteristics of the melanoma.

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24
Q

What gene mutation is found in Hairy Cell Leukemia?

A

BRAF

The BRAF mutation is a hallmark of Hairy Cell Leukemia.

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25
What are the hallmark features of Hairy Cell Leukemia?
Fatigue, splenomegaly, pancytopenia, infections, 'hairy' projections on peripheral blood smear ## Footnote The 'hairy' projections are characteristic of the leukemic cells.
26
What is the prognosis for Hairy Cell Leukemia with treatment?
Excellent with treatment ## Footnote Most patients respond well to therapies available for Hairy Cell Leukemia.
27
What treatments are used for Hairy Cell Leukemia?
Purine analogs (cladribine, pentostatin), rituximab for refractory cases ## Footnote Cladribine is the primary treatment for Hairy Cell Leukemia.
28
What is the genetic basis of Polycythemia Vera?
JAK2 (V617F mutation) ## Footnote The JAK2 mutation is a key driver in the pathophysiology of Polycythemia Vera.
29
What are the symptoms of Polycythemia Vera?
Headache, dizziness, pruritus (especially after hot showers), erythromelalgia, splenomegaly ## Footnote These symptoms are due to increased blood viscosity and red blood cell mass.
30
What is the prognosis of Polycythemia Vera?
Risk of thrombosis and progression to myelofibrosis or acute leukemia ## Footnote Patients with Polycythemia Vera need careful monitoring for complications.
31
What treatments are available for Polycythemia Vera?
Phlebotomy, low-dose aspirin, hydroxyurea for high-risk patients, JAK inhibitors (ruxolitinib) in resistant cases ## Footnote Phlebotomy is used to reduce red blood cell mass and decrease thrombotic risk.
32
What translocation characterizes Burkitt Lymphoma?
MYC (t(8;14)) ## Footnote The MYC gene is involved in cell cycle regulation and is a key player in Burkitt Lymphoma.
33
What are the clinical signs of Burkitt Lymphoma?
Rapidly growing mass (jaw in endemic form, abdomen in sporadic form), 'starry sky' appearance on histology ## Footnote The 'starry sky' appearance is due to the presence of macrophages and apoptotic cells.
34
What is the prognosis for Burkitt Lymphoma?
Aggressive but highly responsive to chemotherapy ## Footnote Early diagnosis and treatment significantly improve outcomes.
35
What treatments are used for Burkitt Lymphoma?
Intensive chemotherapy regimens (R-CHOP), CNS prophylaxis with intrathecal methotrexate ## Footnote CNS involvement is a risk in Burkitt Lymphoma, necessitating prophylactic strategies.
36
What genetic alteration is linked to Follicular Lymphoma?
BCL-2 (t(14;18)) ## Footnote The BCL-2 gene inhibits apoptosis, contributing to the survival of malignant cells.
37
What are the clinical features of Follicular Lymphoma?
Painless generalized lymphadenopathy, often indolent course ## Footnote Many patients remain asymptomatic for years.
38
What is the prognosis for Follicular Lymphoma?
Slow progression; may transform into aggressive diffuse large B-cell lymphoma ## Footnote Close monitoring is essential due to the risk of transformation.
39
What treatments are available for Follicular Lymphoma?
Observation for asymptomatic cases; rituximab, chemotherapy (R-CHOP) for symptomatic disease ## Footnote Treatment decisions are often based on symptomatology and disease burden.
40
Which genes are implicated in breast cancer?
HER2/neu, BRCA1, BRCA2 ## Footnote These genes play roles in growth signaling and DNA repair mechanisms.
41
What are key clinical features of breast cancer?
Breast lump, nipple retraction, skin dimpling, nipple discharge ## Footnote These signs may indicate the presence of malignancy.
42
How does the prognosis of breast cancer vary?
Varies with subtype; HER2+ aggressive but responds well to targeted therapy ## Footnote Subtype classification informs treatment strategies and prognostic outcomes.
43
What treatments are available for breast cancer?
Surgery, radiation, chemotherapy, hormone therapy (for ER/PR+), targeted therapy (trastuzumab for HER2+) ## Footnote Treatment plans are often multimodal and personalized.
44
What gene mutation is associated with Gastric Cancer?
HER2/neu ## Footnote HER2 overexpression is linked to a more aggressive disease course.
45
What are the clinical signs of Gastric Cancer?
Weight loss, abdominal pain, early satiety, nausea, anemia, Virchow’s node, Sister Mary Joseph nodule ## Footnote These signs may indicate advanced disease.
46
What is the prognosis for Gastric Cancer?
Poor prognosis in advanced stages due to late detection ## Footnote Early detection is crucial for improving survival rates.
47
What treatments are available for Gastric Cancer?
Surgery (gastrectomy), chemotherapy, trastuzumab for HER2+ tumors ## Footnote Treatment approaches depend on the stage and molecular characteristics of the tumor.
48
Which gene is implicated in Mantle Cell Lymphoma?
CCND1 (t(11;14)) ## Footnote The CCND1 gene encodes cyclin D, which is critical for cell cycle progression.
49
What are the clinical features of Mantle Cell Lymphoma?
Lymphadenopathy, splenomegaly, gastrointestinal involvement (lymphomatous polyposis) ## Footnote These features reflect the aggressive nature of the disease.
50
What is the prognosis for Mantle Cell Lymphoma?
Aggressive with poor long-term survival ## Footnote Despite aggressive treatment, long-term outcomes remain challenging.
51
What treatments are used for Mantle Cell Lymphoma?
Chemotherapy (R-CHOP), targeted therapy (BTK inhibitors like ibrutinib), stem cell transplant in younger patients ## Footnote Treatment strategies are evolving with new targeted therapies.
52
Which genes are associated with Colorectal Adenocarcinoma?
KRAS, APC/β-catenin ## Footnote These genes are involved in growth signaling and Wnt pathway regulation.
53
What are the symptoms of Colorectal Adenocarcinoma?
Change in bowel habits, rectal bleeding, iron-deficiency anemia, weight loss ## Footnote These symptoms warrant further investigation for potential malignancy.
54
How does the prognosis of Colorectal Adenocarcinoma depend on diagnosis stage?
Depends on stage at diagnosis; early detection improves outcomes ## Footnote Staging is critical for treatment planning and prognostic assessment.
55
What treatments are available for Colorectal Adenocarcinoma?
Surgery, chemotherapy (5-FU, oxaliplatin), targeted therapy (EGFR inhibitors for KRAS-wild type tumors) ## Footnote Treatment strategies are often multimodal and depend on genetic factors.
56
What gene mutation is common in Pancreatic Adenocarcinoma?
KRAS ## Footnote The KRAS mutation is found in the majority of pancreatic cancer cases.
57
What are the symptoms of Pancreatic Adenocarcinoma?
Abdominal/back pain, jaundice, weight loss, new-onset diabetes, Courvoisier sign (palpable gallbladder) ## Footnote Symptoms often present late in the disease course.
58
What is the prognosis for Pancreatic Adenocarcinoma?
Poor; often diagnosed late with metastatic disease ## Footnote Late diagnosis significantly affects survival rates.
59
What treatments are available for Pancreatic Adenocarcinoma?
Whipple procedure (if resectable), chemotherapy (gemcitabine, FOLFIRINOX), palliative care for advanced stages ## Footnote The choice of treatment depends on the resectability of the tumor.
60
Which gene is mutated in Familial Adenomatous Polyposis (FAP)?
APC/β-catenin ## Footnote The mutation leads to the development of numerous colorectal polyps.
61
What are the clinical implications of Familial Adenomatous Polyposis (FAP)?
Hundreds to thousands of colorectal polyps, typically appearing in adolescence ## Footnote Patients with FAP have a near 100% risk of developing colorectal cancer if untreated.
62
What is the prognosis for Familial Adenomatous Polyposis (FAP) if untreated?
Near 100% risk of colorectal cancer if untreated ## Footnote Regular screening and proactive management are essential.
63
What treatments are available for Familial Adenomatous Polyposis (FAP)?
Prophylactic colectomy, regular screening for extracolonic manifestations ## Footnote Surgical intervention is often necessary to prevent cancer development.
64
Which genes are implicated in Ovarian Cancer?
BRCA1, BRCA2 ## Footnote These genes are involved in DNA repair mechanisms and their mutations increase cancer risk.
65
What are the signs of Ovarian Cancer?
Bloating, pelvic/abdominal pain, early satiety, urinary urgency ## Footnote These symptoms can be vague and may overlap with other conditions.
66
What is the prognosis for Ovarian Cancer?
Poor, often diagnosed at advanced stages ## Footnote Late-stage diagnosis contributes to lower survival rates.
67
What treatments are available for Ovarian Cancer?
Surgery, platinum-based chemotherapy, PARP inhibitors for BRCA-mutated tumors ## Footnote Treatment is often tailored based on the presence of genetic mutations.
68
What genetic defect causes Li-Fraumeni Syndrome?
TP53 ## Footnote The TP53 gene is a critical tumor suppressor involved in cell cycle regulation.
69
What cancers are common in Li-Fraumeni Syndrome?
Predisposition to breast cancer, sarcomas, brain tumors, adrenocortical carcinoma, leukemia ## Footnote Individuals with this syndrome require vigilant monitoring for various malignancies.
70
What is the prognosis for Li-Fraumeni Syndrome?
High lifetime cancer risk; variable depending on cancer type ## Footnote Regular screenings can help manage risk.
71
What treatments are available for Li-Fraumeni Syndrome?
Cancer-specific management; regular screening and surveillance ## Footnote Management strategies focus on early detection and treatment of arising cancers.
72
Which gene mutation causes Retinoblastoma?
RB ## Footnote The RB gene is crucial for regulating the cell cycle.
73
How does Retinoblastoma present in children?
Leukocoria (white pupillary reflex), strabismus, vision impairment ## Footnote Early detection is key for effective treatment.
74
What is the prognosis for Retinoblastoma with early treatment?
Excellent with early treatment ## Footnote Survival rates are high when detected early.
75
What treatments are available for Retinoblastoma?
Enucleation, chemotherapy, radiation, laser therapy depending on disease extent ## Footnote The treatment approach is often multidisciplinary.
76
What is the genetic basis of Osteosarcoma?
RB ## Footnote The RB gene is implicated in the development of this bone cancer.
77
What are the common features of Osteosarcoma?
Bone pain, swelling, often around the knee (distal femur, proximal tibia), pathological fractures ## Footnote Symptoms often lead to a delayed diagnosis.
78
What is the prognosis for Osteosarcoma?
Depends on response to chemotherapy ## Footnote Response to initial treatment is a significant predictor of outcomes.
79
What treatments are available for Osteosarcoma?
Neoadjuvant chemotherapy, limb-sparing surgery, adjuvant chemotherapy ## Footnote The goal is to remove the tumor while preserving limb function.
80
Which gene is linked to Renal Cell Carcinoma?
VHL ## Footnote The VHL gene is involved in regulating hypoxia-inducible factors.
81
What are the hallmark signs of Renal Cell Carcinoma?
Hematuria, flank pain, palpable mass, paraneoplastic syndromes (polycythemia, hypercalcemia) ## Footnote These symptoms can indicate advanced disease.
82
What is the prognosis for Renal Cell Carcinoma if localized?
Good if localized; poor in metastatic disease ## Footnote Early-stage detection significantly enhances survival rates.
83
What treatments are available for Renal Cell Carcinoma?
Nephrectomy, targeted therapy (VEGF inhibitors), immunotherapy (PD-1 inhibitors) ## Footnote Treatment strategies are evolving with advancements in targeted therapies.
84
What causes Von Hippel-Lindau Syndrome?
VHL ## Footnote The VHL gene is a tumor suppressor involved in regulating the body's response to hypoxia.
85
What are the manifestations of Von Hippel-Lindau Syndrome?
Hemangioblastomas (brain, retina), renal cell carcinoma, pheochromocytoma, pancreatic cysts ## Footnote Patients require lifelong surveillance due to the risk of multiple tumors.
86
What is the prognosis for Von Hippel-Lindau Syndrome?
Variable; risk of multiple tumors throughout life ## Footnote The prognosis depends on tumor type and treatment response.
87
What treatments are available for Von Hippel-Lindau Syndrome?
Surveillance, surgical resection of tumors, targeted therapy for RCC ## Footnote Management is tailored to individual tumor characteristics.
88
What gene mutation causes Wilms Tumor (Nephroblastoma)?
WT1 ## Footnote The WT1 gene is crucial for urogenital differentiation.
89
What are the clinical signs of Wilms Tumor?
Abdominal mass, hematuria, hypertension, abdominal pain ## Footnote These signs typically prompt further investigation in children.
90
What is the prognosis for Wilms Tumor with treatment?
Excellent with treatment ## Footnote Most patients respond well to therapy and have favorable outcomes.
91
What treatments are available for Wilms Tumor?
Nephrectomy, chemotherapy, radiation in advanced cases ## Footnote Treatment plans often depend on the stage and extent of disease.
92
Which chromosomal translocation is associated with mantle cell lymphoma?
t(11;14) ## Footnote Results in excess production of Cyclin D1 --> Unregulated cell division.
93
Mutation of which gene is associated with familial adenomatous polyposis?
APC gene ## Footnote APC is a tumor suppresor that inhibits beta catenin to prevent unrestrained cell division.
94
What are the gene types mutated in MEN1 and MEN2, respectively?
Tumor suppresor gene & protoonco gene
95
Which malignancy is classically associated with a HER2/neu mutation?
Breast carcinoma
96
Which pathology and chromosomal translocation is the BCR-ABL fusion protein associated with?
Chronic myeloid leukemia, t(9;22)
97
For carcinogenesis to occur, how many mutations are required for proto-oncogenes and tumor suppressor genes, respectively?
One; two

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