Week 8 Flashcards
(23 cards)
Why are haematological malignancies considered clonal diseases?
They originate from a single mutated cell that undergoes clonal expansion, leading to excessive proliferation and further mutations.
What is the role of apoptosis in haematological malignancies?
Cancerous cells evade apoptosis, allowing uncontrolled growth and accumulation of abnormal cells.
What are the main categories of haematological malignancies?
Myeloid malignancies (e.g., AML, CML) and lymphoid malignancies (e.g., ALL, lymphomas).
What are proto-oncogenes and how do they contribute to cancer?
Normal genes that regulate cell growth, which can turn into oncogenes when mutated, leading to uncontrolled proliferation
What are tumour suppressor genes?
Genes that regulate cell division and apoptosis; mutations in these can result in cancer progression.
How does flow cytometry help in diagnosing blood cancers?
Identifies specific CD markers on cells, helping differentiate between different haematological malignancies.
What is the role of cytogenetics in cancer diagnosis?
Detects chromosomal abnormalities, such as translocations, deletions, and aneuploidy.
What is Fluorescence In Situ Hybridization (FISH)?
A technique that uses fluorescent probes to detect specific genetic abnormalities in chromosomes.
What is Minimal Residual Disease (MRD) monitoring?
Detects small numbers of cancer cells remaining after treatment, often using PCR or flow cytometry.
What is the Philadelphia chromosome?
A reciprocal translocation t(9;22) that produces the BCR-ABL fusion protein, driving CML.
What is the standard treatment for CML?
Tyrosine kinase inhibitors (TKIs) like Imatinib (Gleevec).
How does Imatinib resistance develop?
Mutations in the BCR-ABL gene prevent drug binding, leading to resistance
What is JMML?
A rare childhood myelodysplastic/myeloproliferative disorder affecting myeloid cells.
What genetic mutations are common in JMML?
Mutations in RAS, PTPN11, or NF1
How is JMML diagnosed?
Elevated monocyte count, presence of blast cells, and molecular testing for RAS pathway mutations.
Auer rods
needle-like cytoplasmic inclusions in myeloblasts
How is AML classified?
FLT3 mutations, NPM1 mutations
What are the main treatment approaches for AML?
Chemotherapy, targeted therapy (e.g., FLT3 inhibitors), and stem cell transplantation.
What genetic abnormality causes APL?
The t(15;17) translocation, creating the PML-RARα fusion protein.
How does PML-RARα contribute to cancer?
Blocks differentiation of promyelocytes, leading to an accumulation of immature cells.
How does ATRA work in APL? (type of treatment)
Promotes differentiation of leukemic cells and degradation of PML-RARα.
What is the role of Next-Generation Sequencing (NGS) in haematological malignancies?
Identifies mutations, copy number variations, and gene expression profiles
What are FLT3 inhibitors used for?
Targeting FLT3-mutated AML to block tyrosine kinase activity.
