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Cytogenetics
Lecture 9/27
28
Medical
Professional
09/29/2013

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Term
How is karyotype G-banding performed?
Definition
Trypsin followed by Giemsa stain
Term
What is a derivative chromosome?
Definition
Chromosome with an attachement of genetic material of unknown origin
Term
What does FISH allow you to detect?
Definition
the Number and Location of the specific DNA sequence within cells/tissues (both Sensitive and Specific)
Term
What is the smallest size that can be detected with FISH?
Definition
100kb
Term
What are the steps to perform FISH?
Definition
Denature the DNA, Add probe complementry to the desired sequence, visualize
Term
What are the two types of probes used in FISH in Oncology?
Definition
Dual color Dual fision and Dual Color break-apart
Term
Enumeration probes
Definition
count chromosomes by binding to centromere
Term
What are the two most common probes used?
Definition
Locus Specific Indicators (LSI, almost all use this) and Centromere Enumeration Probe (CEP)
Term
Dual color Dual fusion should show what for PML/RARA?
Definition
both Red and Green probes located adjacent to eachother since the translocation occured between the two different chromosomes
Term
What should a Dual color break apart probe show on Inv(16) and what is normal?
Definition
Separation of the colors when normally they should be solid
Term
What does DNA testing for mutations require?
Definition
Some knowledge of the mutations that cause the disease (DNA sequence and location)
Term
Philadelphia Translocation
Definition
t(9;22) CML which moves ABL onto promoter of B-cell Receptor (high activity)
Term
What does the t(9;22) in CML result in in terms of cellular activity
Definition
Increased Tyrosine Kinase activity of ABL
Term
CML arises in a stem cell that is what precursor?
Definition
Granulocyte precrusor as opposed to lymphoid
Term
What are the three main treatment options for CML?
Definition
Gleevec (imatinib), Hydroxyurea, Alpha interferon
Term
How does Gleevec act?
Definition
It inhibits the tyrosine kinase activity of the BCR-ABL
Term
If a patient presents with a DIC-like clinical picture think what?
Definition
APL
Term
What happens to the bone marrow in APL and what is treatment?
Definition
Promyeloblasts proliferate and can't differentiate further, unlessed induced by ATRA
Term
What is the karyotype of APL?
Definition
t(15;17)
Term
What will immunophenotypes (through flow cytometry) show on APL?
Definition
Negative CD34 and HLA-DR
Term
Eosinophil with Basophilic Granules indicates what disorder?
Definition
AML inv(16) aka AML M4
Term
What is the clinical picture of Burkitt Lymphoma?
Definition
High fever, night sweats, nausea, anorexia, weakness
Term
What do the B-cells in Burkitt Lymphoma show on smear?
Definition
Deep basophilic cytoplasm, "Stary sky", Lipid vacuoles
Term
Karyotype of Burkitt's Lymphoma
Definition
t(8;14) resulting in fusion of c-myc
Term
What is the karyotype of ALCL?
Definition
t(2;5)
Term
Typical Immunophenotype results of ALCL?
Definition
CD30+, ALK+
Term
Karyotype of Mantle Cell Lymphoma (MCL) and what protein is involved
Definition
t(11;14) (involves CCND)
Term
What will immunophenotype of Mantle Cell Lymphoma invariably show?
Definition
CD5+ and Cyclin D1+
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