ASCP SMB Exam: Translocations and Mutations-
QUESTIONS & ANSWERS VERIFIED 100%
CORRECT
____ is cancer of the body's blood-forming tissues, including the bone marrow and the
lymphatic system.
Leukemia
____ is cancer of the lymphatic system, which includes the lymph nodes (lymph glands),
spleen, thymus gland and bone marrow.
Lymphoma
Follicular Lymphoma
t(14;18)
BCL2 gene
- Dysregulation inhibits apoptosis in B-lymphocytes
Chronic Myelogenous Leukemia
t(9;22)
BCR-ABL1 fusion gene produced
-aberrant kinase activity
*Philadelphia Chromosome
Detected via: Karyotype, FISH, Southern blot, PCR
,Acute Promyelocytic Leukemia
t(15;17)
Two fusion genes - head to tail fusion
- PML-RAR-alpha/RAR-alpha-PML (80%)
PML/RARa-RXR complex forms, resulting in immature promyelocytes, rendering the patient
immunosuppressed
Detected via: qPCR
Acute Lymphoblastic Leukemia
t(17;19)
Disease caused by T-cell IgH chain rearrangement, resulting in an overproduction of immature
lymphocytes, crowding out normal WBCs, RBCs, and platelets
Hyperhomocysteinemia
MTHFR gene (C677T)
- Methylene Tetrahydrofolate Reductase converts homocysteine to cysteine and methionine
Disease caused by inadequate enzyme activity, causing an elevated amount (>15mM/L) of
homocysteine in the blood, leading to increased risk of cardiovascular and cerebrovascular
disorders
Detected via: HPLC & immunoassay
Acute Myeloid Leukemia/Acute Myelogenous Leukemia (AML)
, FLT3 gene
- expressed in hematopoietic stem cells for cell survival and proliferation
Overexpression leads to aberrant proliferation of malignant cells
FLT3-ITD (internal tandem duplications) - 25%
FLT3-TKD (tyrosine kinase domain) point mutations or deletions - 10%
Burkitt's Lymphoma
t(8;14)
c-myc gene
Disease caused by c-myc (c8) being separated from normal regulatory region and moved into
switch recombination region of IgH (c14)
Detected via: Southern, FISH, CISH
Mantle Cell Lymphoma
t(11;14)
CCND1-IGH fusion gene produced
- Increased expression of cyclin D1, triggering passage from G1 to S phase
Detected via: karyotype, FISH, Southern blot, qPCR
Sezary Syndrome
Cutaneous T cell lymphoma
Thrombosis (Factor V Leiden)
QUESTIONS & ANSWERS VERIFIED 100%
CORRECT
____ is cancer of the body's blood-forming tissues, including the bone marrow and the
lymphatic system.
Leukemia
____ is cancer of the lymphatic system, which includes the lymph nodes (lymph glands),
spleen, thymus gland and bone marrow.
Lymphoma
Follicular Lymphoma
t(14;18)
BCL2 gene
- Dysregulation inhibits apoptosis in B-lymphocytes
Chronic Myelogenous Leukemia
t(9;22)
BCR-ABL1 fusion gene produced
-aberrant kinase activity
*Philadelphia Chromosome
Detected via: Karyotype, FISH, Southern blot, PCR
,Acute Promyelocytic Leukemia
t(15;17)
Two fusion genes - head to tail fusion
- PML-RAR-alpha/RAR-alpha-PML (80%)
PML/RARa-RXR complex forms, resulting in immature promyelocytes, rendering the patient
immunosuppressed
Detected via: qPCR
Acute Lymphoblastic Leukemia
t(17;19)
Disease caused by T-cell IgH chain rearrangement, resulting in an overproduction of immature
lymphocytes, crowding out normal WBCs, RBCs, and platelets
Hyperhomocysteinemia
MTHFR gene (C677T)
- Methylene Tetrahydrofolate Reductase converts homocysteine to cysteine and methionine
Disease caused by inadequate enzyme activity, causing an elevated amount (>15mM/L) of
homocysteine in the blood, leading to increased risk of cardiovascular and cerebrovascular
disorders
Detected via: HPLC & immunoassay
Acute Myeloid Leukemia/Acute Myelogenous Leukemia (AML)
, FLT3 gene
- expressed in hematopoietic stem cells for cell survival and proliferation
Overexpression leads to aberrant proliferation of malignant cells
FLT3-ITD (internal tandem duplications) - 25%
FLT3-TKD (tyrosine kinase domain) point mutations or deletions - 10%
Burkitt's Lymphoma
t(8;14)
c-myc gene
Disease caused by c-myc (c8) being separated from normal regulatory region and moved into
switch recombination region of IgH (c14)
Detected via: Southern, FISH, CISH
Mantle Cell Lymphoma
t(11;14)
CCND1-IGH fusion gene produced
- Increased expression of cyclin D1, triggering passage from G1 to S phase
Detected via: karyotype, FISH, Southern blot, qPCR
Sezary Syndrome
Cutaneous T cell lymphoma
Thrombosis (Factor V Leiden)
