Trouble Areas Flashcards
Name the typical appearance of: Histoplasmosis Blastomycosis Coccidioidiomycosis Paracoccidioidomycosis.
Histo: Ovoid cells within macrophages; Blasto: broad based budding (RBC size); Coccidio: spherule filled with endosomes; Paracrypto: budding yeast w/ captain’s wheel formation (larger than RBC)
What are the Neural Crest Cell derivatives in the: Nervous synstem Bones/skin Endocrine system Heart
Nervous: Pia, Arachnoid, PNS (dorsal root ganglia, cranial nerves, autonomic ganglia, Schwann cells)
Bones/Skin: Skull bones, Odontoblasts, Melanocytes
Endocrine: Chromaffin cells of adrenal medulla, Parafollicular cells of thyroid (C cells)
Heart: Endocardial cushion, Aorticopulmonary septum
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Fabry disease
F: Alpha-galactosidase–>ceramide trihexoside (XR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Gaucher disease
G: Glucocerebrosidase –> glucocerebroside (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Niemann-Pich disease
NP: Sphingomyelinase –> sphingomyelin (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Tay-Sachs disease
TS: Hexosaminidase A –> GM2 ganglioside (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Krabbe disease
K: Galactocerebrosidase –>galactocerebroside, psychosine (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Metachromatic Leukodystrophy
ML: Arylsulfatase A –> cerebroside sulfate (sulfatides) (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Hurler syndrome
Hurl: Alpha-L-iduronidase –> heparan sulfate, dermatan sulfate (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Hunter syndrome
Hunt: Iduronate sulfatase –> heparan sulfate, dermatan sulfate (XR)
How many oncogenes must be mutated to cause cancer? (Dominant/recessive?) When an oncogene is mutated, does the cell gain or lose fxn? How does this affect cancer risk? Does overexpression or underexpression lead to cancer?
Only 1 must be lost (dominant mutation) to cause a gain of fxn mutation that increases cancer risk.
Bottomline: A mutation of an oncogene results in increased activity of the gene (overexpression) that leads to too much protein/product that enhances growth, resulting in neoplasia.
How many tumor suppressor genes must be lost to cause cancer? When a tumor suppressor gene is mutated, does the cell gain or lose fxn? How does this affect cancer risk? Does overexpression or underexpression lead to cancer?
2 tumor suppressor genes must be lost (recessive mutation) to cause loss of fxn mutation that increases cancer risk.
Bottomline: A mutation of a tumor suppressor gene results in decreased activity of the gene (underexpression) that leads to a deficiency in protein/product that inhibits growth, resulting in neoplasia.
Gene: ALK
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; receptor tyrosine kinase; lung adenocarcinoma
Gene: BCR-ABL
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; tyrosine kinase; CML, ALL
Gene: BCL-2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; antiapoptotic molecule; follicular and diffuse large B cell lymphoma
Gene: BRAF
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; serine/threonine kinase; melanoma, non-Hodgkin lymphoma
Gene: c-KIT
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; cytokine receptor; gastrointestinal stromal tumor (GIST)
Gene: c-MYC
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; transcription factor; Burkitt lymphoma
Gene: HER2/neu (c-erbB2)
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; tyrosine kinase; breast and gastric carcinomas
Gene: JAK2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; tyrosine kinase; chronic myeloproliferative disorders
Gene: KRAS
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; GTPase; colon, lung, pancreatic cancer
Gene: MYCL1
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; transcription factor; Lung tumor (notice L in MYCL1)
Gene: MYCN
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; transcription factor; Neuroblastoma (notice N in MYCN)