Neoplasia Facts Flashcards
ALK
Oncogene
Gene Product: Receptor tyrosine kinase
Associated Neoplasm: Lung adenocarcinoma
BCR-ABL
Oncogene
Gene Product: Tyrosine kinase
Associated Neoplasm: CML, ALL
BCL-2
Oncogene
Gene Product: Anti-apoptotic molecule (inhibits apoptosis)
Associated Neoplasm: Follicular and diffuse large B cell lymphomas
BRAF
Oncogene
Gene Product: Serine/threonine kinase
Associated Neoplasm: Melanoma, non-Hodgkin lymphoma
c-KIT
Oncogene
Gene Product: Cytokine receptor
Associated Neoplasm: Gastrointestinal stromal tumor (GIST)
c-MYC
Oncogene
Gene Product: Transcription factor
Associated Neoplasm: Burkitt lymphoma
HER2/neu (c-erbB2)
Oncogene
Gene Product: Tyrosine kinase
Associated Neoplasm: Breast and gastric carcinomas
JAK2
Oncogene
Gene Product: Tyrosine kinase
Associated Neoplasm: Chronic myeloproliferative disorders
KRAS
Oncogene
Gene Product: GTPase
Associated Neoplasm: Colon cancer, lung cancer, pancreatic cancer
MYCL1
Oncogene
Gene Product: Transcription factor
Associated Neoplasm: Lung tumor
MYCN
Oncogene
Gene Product: Transcription factor
Associated Neoplasm: Neuroblastoma
RET
Oncogene
Gene Product: Tyrosine kinase
Associated Neoplasm: MEN2A and 2B, medullary thyroid cancer
APC
Tumor Suppressor Gene
Associated Neoplasm: Colorectal cancer (associated with FAP)
BRCA1/BRCA2
Tumor Suppressor Gene
Gene Product: DNA repair protein
Associated Neoplasm: Breast and ovarian cancer
CDKN2A
Tumor Suppressor Gene
Gene Product: p16, blocks G1 –> S phase
Associated Neoplasm: Melanoma, pancreatic cancer
DCC
Tumor Suppressor Gene
Gene Product: DCC (Deleted in Colon Cancer)
Associated Neoplasm: Colon cancer
DPC4/SMAD4
Tumor Suppressor Gene
Gene Product: DPC (Deleted in Pancreatic Cancer)
Associated Neoplasm: Pancreatic cancer
MEN1
Tumor Suppressor Gene
Gene Product: Menin
Associated Neoplasm: MEN 1
NF1
Tumor Suppressor Gene
Gene Product: Ras GTPase activating protein (neurofibromin)
Associated Neoplasm: NeuroFibromatosis Type 1
NF2
Tumor Suppressor Gene
Gene Product: Merlin (schwannomin) protein
Associated Neoplasm: NeuroFibromatosis Type 2
PTEN
Tumor Suppressor Gene
Associated Neoplasm: Breast cancer, prostate cancer, endometrial cancer
Rb
Tumor Suppressor Gene
Gene Product: Inhibits E2F, blocks G1 –> S phase
Associated Neoplasm: Retinoblastoma, osteosarcoma
TP53
Tumor Suppressor Gene
Gene Product: p53, activates p21, blocks G1 –> S phase
Associated Neoplasm: Most human cancers, Li-Fraumeni syndrome
TSC1
Tumor Suppressor Gene
Gene Product: Hamartin protein
Associated Neoplasm: Tuberous sclerosis
TSC2
Tumor Suppressor Gene
Gene Product: Tuberin protein
Associated Neoplasm: Tuberous sclerosis
VHL
Tumor Suppressor Gene
Gene Product: Inhibits hypoxia inducible factor 1a
Associated Neoplasm: Von Hippel-Lindau disease, renal cell carcinoma
WT1/WT2
Tumor Suppressor Gene
Associated Neoplasm: Wilms Tumor (nephroblastoma)
EBV
Associated Cancer: Burkitt lymphoma, Hodgkin lymphoma, nasopahryngeal carcinoma, primary CNS lymphoma (in immunocompromised patients)
HBV/HCV
Associated Cancer: Hepatocellular carcinoma, lymphoma
HHV-8
Associated Cancer: Kaposi sarcoma
HPV
Associated Cancer: Cervical and penile/anal carcinoma (types 16, 18) Head and neck cancer
H pylori
Associated Cancer: Gastric adenocarcinoma and MALT lymphoma
HTLV-1
Associated Cancer: Adult T-cell leukemia/lymphoma
Liver fluke (Clonorchis sinensis)
Associated Cancer: Cholangiocarcinoma
Schistosoma haematobium
Associated Cancer: Bladder cancer (squamous cell)
t(15;17)
APL (M3 type of AML)
Acanthosis nigricans
Paraneoplastic Syndrome
Sign of Leser-Trelat
Paraneoplastic Syndrome
Hypercalcemia
Paraneoplastic Syndrome
Cushing syndrome
Paraneoplastic Syndrome
Acanthosis nigricans
Paraneoplastic Syndrome
MOA: Hyperpigmented velvety plaques in axilla and neck
Associated Cancer: Gastric adenocarcinoma and other visceral malignancies (but more commonly associated with obesity and insulin resistance)
Sign of Leser-Trelat
Paraneoplastic Syndrome
MOA: Sudden onset of multiple seborrheic keratoses
Associated Cancer: GI adenocarcinomas and other visceral malignancies
Hypercalcemia
Paraneoplastic Syndrome
MOA: PTHrP
Associated Cancer: Squamous cell carcinomas of the lung, head, and neck; renal, bladder, breast, and ovarian carcinomas
MOA: Increased 1,25-(OH)2 vitamin D3 (Calcitriol)
Associated Cancer: Lymphoma
Cushing syndrome
Paraneoplastic Syndrome
MOA: Increased ACTH
Associated Cancer: Small cell lung cancer
Hyponatremia (SIADH)
Paraneoplastic Syndrome
MOA: Increased ADH
Associated Cancer: Small cell lung cancer
Polycythemia
Paraneoplastic Syndrome
MOA: Increased EPO
Associated Cancer: Renal cell carcinoma, hepatocellular carcinoma, hemangioblastoma, pheochromocytoma, leiomyoma
Pure red cell aplasia
Paraneoplastic Syndrome
MOA: Anemia with low reticulocytes
Associated Cancer: Thymoma
Good syndrome
Paraneoplastic Syndrome
MOA: Hypogammaglobulinemia
Associated Cancer: Thymoma
Trousseau syndrome
Paraneoplastic Syndrome
MOA: Migratory superficial thrombophlebitis
Associated Cancer: Adenocarcinomas, especially pancreatic
Nonbacterial thrombotic (marantic) andocarditis
Paraneoplastic Syndrome
MOA: Deposition of sterile platelet thrombi on heart valves
Associated Cancer: Adenocarcinomas, especially pancreatic
Anti-NMDA receptor encephalitis
Paraneoplastic Syndrome
MOA: Psychiatric disturbance, memory deficits, seizures, dyskinesias, autonomic instability, language dysfunction
Associated Cancer: Ovarian teratoma
Opsoclonus-myoclonus ataxia syndrome
Paraneoplastic Syndrome
MOA: “dancing eyes, dancing feet”
Associated Cancer: Neuroblastoma (children), small cell lung cancer (adults)
Paraneoplastic cerebellar degenration
Paraneoplastic Syndrome
MOA: Antibodies against Hu, Yo, and Tr antigens in Purkinje cells
Associated Cancer: Small cell lung cancer, gynecologic and breast cancers, and Hodgkin lymphoma
Paraneoplastic encephalomyelitis
Paraneoplastic Syndrome
MOA: Antibodies against Hu antigens in neurons
Associated Cancer: Small cell lung cancer
Lambert-Eaton myasthenic syndrome
Paraneoplastic Syndrome
MOA: Antibodies against presynaptic (P/Q-type) Ca2+ channels at NMJ
Associated Cancer: Small cell lung cancer
Myasthenia gravis
Paraneoplastic Syndrome
MOA: Antibodies against postsynaptic AChR and NMJ
Associated Cancer: Thymoma
CAG repeats
Huntington Disease. Caudate has decreased Ach and Gaba
CTG repeats
Mytonic Dystrophy. Cataracts, Toupee (early balding in men), Gonadal atrophy
CGG repeats
Fragile X syndrome. Chin (protruding), Giant Gonads
GAA repeats
Friedreich Ataxia. Ataxic GAAit.
Disorders on Chromosome 3
- von Hippel-Lindau Disease
* Renal Cell Carcinoma
Disorders on Chromosome 4
- ADPKD (PKD2)
- Achondroplasia
- Huntington Disease
Disorders on Chromosome 5
- Cri-du-chat syndrome
* Familial Adenomatous Polyposis
Disorders on Chromosome 6
- Hemochromatosis (HFE)
Disorders on Chromosome 7
- Williams Syndrome
* Cystic Fibrosis
Disorders on Chromosome 9
- Friedreich Ataxia
Disorders on Chromosome 11
- Wilms Tumor
* β-globin gene defects (ex. sickle cell disease, β-thalassemia, MEN1)
Disorders on Chromosome 13
- Patau Syndrome
- Wilson Disease
- Retinoblastoma (RB1)
- BRCA2
Disorders on Chromosome 15
- Prader-Willi Syndrome
- Angelman Syndrome
- Marfan Syndrome
Disorders on Chromosome 16
- ADPKD (PKD1)
* α-globin gene defects (α-thalassemia)
Disorders on Chromosome 17
- Neurofibromatosis type 1
- BRCA1
- p53
Disorders on Chromosome 18
- Edwards Syndrome
Disorders on Chromosome 21
- Down Syndrome
Disorders on Chromosome 22
- Neurofibromatosis Type 2
* DiGeorge syndrome (22q11)
Disorders on Chromosome X
- Fragile X Syndrome
- X-linked Agammaglobulinemia
- Klinefelter Syndrome (XXY)