Molecular Tests
Terms
undefined, object
copy deck
- What does FLT-3 stand for?
- fmr-like tyrosine kinase 3
- How many exons does FLT-3 have?
- 24
- How many base pairs are in the FLT-3 gene?
- 96 kbp
- What types of mutations does the FLT-3 assay test for?
- and Internal Tandem Duplication in exon 11 (the juxtamembrane domain); and the D835 mutation (activation loop of the kinase domain)
- What type of cancer is the FLT-3 mutation associated with?
- Acute myeloid leukemia?
- What is the percent of AML cases that are FLT-3 positive?
- 20-30%
- What is the effect of being FLT-3 positive on a AML patient's prognosis/treatment?
- Poor prognosis; more aggressive treatment necesssary; more likely to relapse;
- What is Hemochromatosis
- a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron
-
What are the different possible HFE mutations leading to Hemochromatosis?
-
C282Y
H63D
S65C
-
How many types of HPV are considered high risk for cervical cancer?
-
13 total,
4 high risk
-
What are the 13 types
-
16 / 18 / 31 / 33 / 35 / 39 / 45 / 51 / 52 / 56 / 58 /
59 / 68
- What is the progression from HPV infection to cervical cancer?
- HPV infection -> cervical dyskaryosis,-> cercical cancer
-
Where is the HFE gene located ?
- On the short arm of chromosome 6
-
What is the JAK-2 mutation?
-
Janus kinase 2 (Jak2) is essential for signal transduction by mediating tyrosine phosphorylation.
Jak2 mutation by way of chromosomal translocations in hematopoietic tumors and mutations within the pseudokinase domain in a spectrum of myelo
-
What is a chromosomal translocation? (review)
-
a chromosomal abnormality caused by rearrangment of parts between non-homologous chromosomes.
Clinically, it is detected through cytogenetic methods (ie a karytype of affected cells.
-
What are the two main types of chromosomal translocations?
-
Non-robertsonian
Robertsonian
translocations can also bebalanced or unbalanced
- Non-robertsonian
- reciprocal between two chromsomes, causes normal phenotypes, may cause nondisjunction in future offspring
- Robertsonian
-
involves two acrocentric chromosomes that have fused near the center, causing a karyotype of 45 chromsomes instead of 46