Term
| A gain of function of which genes cause cancer? |
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Definition
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Term
| A loss of function of which genes cause cancer? |
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Definition
| tumor suppressor/repair genes |
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Term
| What is teh most common type of cancer gene? |
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Definition
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Term
| Which cancer gene has a dominant behavior? |
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Definition
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Term
| Which cancer gene acts recessively? |
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Definition
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Term
| WHy is it important to get cytogenetic/molecular info on hematologic cancers? |
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Definition
| it affects the diagnosis, prognosis and treatment plan |
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Term
| Name examples of strucutral cytogenetic alterations. |
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Definition
| deletions, inversions, translocations |
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Term
| What are common genetic techniques? |
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Definition
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Term
| How do you prepare blood or bone marrow specimens for cytogenetics? |
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Definition
| green top tube with sodium |
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Term
| How do you prepare tissue/tumor specimens for cytogenetics? |
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Definition
| frehs tissue in RPMI fluid |
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Term
| When do you get cytogenetics/fish? |
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Definition
| diagnostic workup for new leukemias/lymphomas, all progressing leukemias, all familial cancer syndromes, in solid tumor analysis (tho currently not standard of care) |
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Term
| How do you perform a cytogenetic karyotype? |
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Definition
| get a cell culture and havest cells during mitosis (metaphase); perform giemsa staining (G-banding) |
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Term
| How long does it take to get karytype back? |
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Definition
blood: 3-4 days
bone marrow: 1-2 days
solid tumors: dependent on tissue viability |
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Term
| If you think someone has a lymphoma/leukemia and needs a bone marrow study what do you order? |
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Definition
| pathology consult for bone marrow aspirate and biopsy to include cytogenetics |
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Term
| Are cytogenetic abnormalities common in ALL? |
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Definition
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Term
| What types of cytogenetic abnormalities are typical of ALL? |
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Definition
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Term
| Which cytogenetic abnormality of ALL has the best prognosis? What is a favorable prognosis? |
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Definition
| hyperdiploidy (>50) is the best; t(12:21) has a favorable prognosis |
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Term
| What cytogenetic abnormalities indicate a poor prognosis with ALL? |
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Definition
| hypodiploidy (<46) or r(9:22) |
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Term
| Auer rods + >20% blasts = |
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Definition
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Term
| Auer rods with a t(15:17) indicates what diagnosis? |
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Definition
| AML subtype acute promyelocytic leukemia |
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Term
| Are cytogenetic abnormalities common in AML? |
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Definition
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Term
| What types of cytogenetic abnormalities are more common in AML? |
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Definition
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Term
| What's another name for APL? |
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Definition
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Term
| What's the prognosis of pts with APL and t(15:17)? |
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Definition
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Term
| How are patients with APL treated? |
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Definition
|
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Term
| Describe what happens in the t(15;17)? |
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Definition
| promyelocytic leukemia gene (PML) on chromosome 22 and retinoic acid gene (RAR) on chromosome 17. Results in RAR-PML on der 17 |
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Term
| AML with abnormal eosinophils indicates what cytogenetics and subtype? |
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Definition
| inv(16) and AML-Eo (Acute myelomonocytic leukemia with abnormal eosinophils) |
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Term
| Describe inv(16) gene associated with AML-Eo. |
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Definition
| pericentric inv(16) results in MYH11-CBF"beta" fusion gene |
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Term
| What are better prognostic cytogenetics in AML? |
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Definition
| r(15;17) and inv(16) (61% 5 yr survival) |
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Term
| What are better prognostic cytogenetics in AML? |
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Definition
| r(15;17) and inv(16) (61% 5 yr survival) |
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Term
| What is the treatment for APL? |
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Definition
|
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Term
| What is the treatment for AML-Eo? |
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Definition
|
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Term
| What's a descriptive name for the normphology of atypical lymphocytes? |
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Definition
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Term
| Trisomy 12 + abundant small, round lymphocytes = |
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Definition
| chronic lymphocytic leukemia (small lymphocytic leukemia) |
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Term
| Are cytogenetic abnormalities common in CLL/SLL? |
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Definition
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Term
| What cytogenetic abnormalities are common in CLL/SLL? |
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Definition
| deletion in 13q (50%) deletion 11q (20%) trisomy 12 (20%) |
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Term
| What cytogenetics ar ea good prognostic indicator for CLL/SLL? |
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Definition
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Term
| What cytogenetics are a worse prognosis for CLL/SLL? |
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Definition
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Term
| What cytogenetic abnormality of CML has a favorable prognosis? |
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Definition
| t(9:22) ALONE (b/c it can be treated with tyrosine kinase inhibitor= gleevec) |
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Term
| How is the philadelphia chromosome made? |
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Definition
| reciprocal translocation between chr 9 with Abl gene and chr 22 with bcr gene puts abl near bcr on der(22)=philadelphia chromosome |
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Term
| What is the histology of Burkitt's lymphoma on lymph node biopsy? |
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Definition
| monomorphous round cells with high mitotic rate and a starry sky pattern due to the presence of macrophages |
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Term
| What cytogenetic abnormalities are typical of burkitt's lymphoma? |
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Definition
| t(8:14)= MC also, t(2;8) and t(8;22) |
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Term
| Describe the t(8;14) mutation of Burkitt's lymphoma? |
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Definition
| reciprocal translocation between chr 8 (where Myc lives) and chr 14 (where Ig lives) results in Ig gene-induced dysregulation of MYC (aka c-myc), a protooncogene |
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Term
| Are cytogenetic abnormalities common in burkitt's lymphoma? |
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Definition
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Term
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Definition
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Term
| Which is more common mantle cell or follicular cell/ |
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Definition
| follicular lymphoma is more common |
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Term
| What is the age range of mantle cell lymphoma? |
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Definition
|
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Term
| What is the age range of follicular lymphoma? |
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Definition
|
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Term
| What is the M:F ratio of MCL? |
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Definition
|
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Term
| What is the M:F ratio of FL? |
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Definition
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Term
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Definition
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Term
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Definition
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Term
| What is the prognosis of MCL? |
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Definition
|
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Term
| What is the prognosis of FL? |
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Definition
|
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Term
| Describe the diagnostic cytogenetic abnormality of MCL? |
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Definition
t(11:14)
bcl-1 gene (aka PRAD1) on chr 11
Ig gene (chr 14) |
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Term
| WHat is the pathophys of t(11;14)? |
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Definition
| Ig induced overexpression of bcl-1 gene product (cyclin D1) |
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Term
| What is the diagnostic cytogenetic abnormality of FL? |
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Definition
| t(14;18) d/t bcl-2 gene on chr 8 and the Ig gene on chr 14 |
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Term
| What is the pathophys of t(14;18) in FL? |
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Definition
| Ig induced overexpression of bcl-2 gene |
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Term
| What are the cytogenetic abnormalities of hodgkin's lymphoma? |
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Definition
NO SPECIFIC ABNORMALITIES; UNCOMMON
structural and numerical changes of nearly all chromosomes (chromosome 1 30%) |
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Term
| What is the pathophys of cytogenetic abnormalities of hodgkin's lymphoma? |
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Definition
| 98% have Ig gene rearrangements by molecular techniques (PCR) |
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Term
| Which hematologic malignancy is d/t deletions? |
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Definition
|
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Term
| Which hematologic malignancy is d/t an inversion? |
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Definition
|
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Term
| Name the hematologic malignancies that are d/t numerical rearrangements? |
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Definition
ploidy= ALL
trisomy= CLL/SLL (+12) |
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Term
| Which cytogenetics predict a bad prognosis for a hematologic malignancy? |
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Definition
| 9:22= bad for ALL; trisomy 12; del(11q) |
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Term
| Which hematologic malignancies have diagnostic cytogenetic changes? |
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Definition
| APL (15;17); AML-Eo inv(16); CML t(9:22); Bkts (8:14); MCL (11;14); FL (14;18) |
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Term
| Which cytogenetic abnormalities direct therapy? |
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Definition
| t(15;17)= ATRA; inv(16)= cytarabine; t(9:22)= gleevac |
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