MOLECULAR DIAGNOSTICS FINAL
EXAM MOLECULAR ONCOLOGY
QUESTIONS AND ANSWERS
LYNCH syndrome (hereditary nonpolyposis colorectal carcinoma) - ANSWER--
Colon cancer (HNPCC)
- Gene: MHL1 and MHL2
- 5 microsatellite locl: BAT25 and BAT26, dinucleotides
Microsatellite instability - ANSWER-1-2 base tandem repeats, sensitive to errors
during DNA,
- test for function of DNA mismatch repair system which may be mutated in
hereditary colon cancer.
- Detected by PCR, compare loci, contain extra products
Detection clonality using antibody and T cell receptor gene arrangements -
ANSWER-PCR: SHARP band unique to the tumor cell population
SOUTHERN BLOT: rearranged bands unique to the tumor cell population.,
Liquid Biopsy - ANSWER-Circulating tumor cells, cell free DNA, RNA, exosomes.
detection: hybridization blotting, PCR, RT-PCR, electrophoresis, SSCP
T(14;18) Follicular Lymphoma and large lymphoma - ANSWER-BCL2 gene moved
from chromosome 18 to 14. BCL2 is dysregulated and overexpressed when
translocated
T(9;22) Chronic Myelogenous Leukemia and Acute Lymophoblastic Leukemia -
ANSWER-Forms a new gene and new protein.
- philadelphia chromsome
- BCRABL drives tumor cell phenotype
- Reverse transcription to looks if mRNA is amplified
- qPCR if therapy is working
- RT-PCR is monitor
- GLEEVEC (tyrosine kinase inhibitor, stabilize inactive BCRABL)
Complexities of Tumor cells - ANSWER-Tumor heterogeneity, variant allele
fractions, mutation hierarchy
Oncogene - ANSWER-gain of function/dominant: inhibit apoptosis
Tumor Suppressor - ANSWER-Loss of function/recessive
Mitogen present - ANSWER-Normal cell growth
NO mitogen present - ANSWER-Cell arrest or apoptosis
No mitogen and oncogene - ANSWER-proliferation
EXAM MOLECULAR ONCOLOGY
QUESTIONS AND ANSWERS
LYNCH syndrome (hereditary nonpolyposis colorectal carcinoma) - ANSWER--
Colon cancer (HNPCC)
- Gene: MHL1 and MHL2
- 5 microsatellite locl: BAT25 and BAT26, dinucleotides
Microsatellite instability - ANSWER-1-2 base tandem repeats, sensitive to errors
during DNA,
- test for function of DNA mismatch repair system which may be mutated in
hereditary colon cancer.
- Detected by PCR, compare loci, contain extra products
Detection clonality using antibody and T cell receptor gene arrangements -
ANSWER-PCR: SHARP band unique to the tumor cell population
SOUTHERN BLOT: rearranged bands unique to the tumor cell population.,
Liquid Biopsy - ANSWER-Circulating tumor cells, cell free DNA, RNA, exosomes.
detection: hybridization blotting, PCR, RT-PCR, electrophoresis, SSCP
T(14;18) Follicular Lymphoma and large lymphoma - ANSWER-BCL2 gene moved
from chromosome 18 to 14. BCL2 is dysregulated and overexpressed when
translocated
T(9;22) Chronic Myelogenous Leukemia and Acute Lymophoblastic Leukemia -
ANSWER-Forms a new gene and new protein.
- philadelphia chromsome
- BCRABL drives tumor cell phenotype
- Reverse transcription to looks if mRNA is amplified
- qPCR if therapy is working
- RT-PCR is monitor
- GLEEVEC (tyrosine kinase inhibitor, stabilize inactive BCRABL)
Complexities of Tumor cells - ANSWER-Tumor heterogeneity, variant allele
fractions, mutation hierarchy
Oncogene - ANSWER-gain of function/dominant: inhibit apoptosis
Tumor Suppressor - ANSWER-Loss of function/recessive
Mitogen present - ANSWER-Normal cell growth
NO mitogen present - ANSWER-Cell arrest or apoptosis
No mitogen and oncogene - ANSWER-proliferation
