Leukocyte Disorders Flashcards
Cause of Pelger-Huet
mutation = decreased expression of β-lamin receptor
How to differentiate true vs Pseudo Pelger-Huet
Pelger-Huet = no clinical significance
Pseudo = disorders (MDS, AML, plasma cell myeloma, drugs) will have other affected characteristics
PBS of Pelger-Huet
Hypo-lobed neutrophils
Clinical significance of Pelger-Huet
Normal cell function
Cause of Alder-Reilly
Recessive allele = lacks enzymes to breakdown mucopolysaccharide for storage = mucopolysaccharide accumulation in cytoplasm
Clinical significance of Alder-Reilly
- normal WBC function
BUT = mental retardation, dwarfism, skeletal deformities, lifespan: 10-20 years
PBS of Alder-Reilly Anomaly
- large pink granules in neutrophils
- can be mistaken for toxicity but NO VACUOLES or NO DOHLE BODIES
Cause of Chediak Higashi
LYST gene mutation = abnormal Lysosomal Trafficking (transport of material to lysosomes)
Clinical Significance of Chediak Higashi
- Defective de-granulation
- Diminished delivery of enzymes to phagosomes
- Abnormal chemotaxis
- Short life expectancy
PBS of Chediak Higashi
- “bubbly” granules = aggregation of primary + secondary granules
- NEUTROPENIA, THROMBOCYTOPENIA
Cause of May-Hegglin Anomaly
MYH9 gene mutation (Myosin-heavy chain-9) = abnormal cytoskeletal proteins in PLATELETS
Clinical significance of May-Hegglin Anomaly
- normal WBC function
- possible bleeding tendencies due to thrombocytopenia
PBS of May-Hegglin Anomaly
- Long BLUE inclusions in ALL GRANULOCYTES
- THROMBOCYTOPENIA
- GIANT PLTs
Cause of Chronic Granulomatous Disease
Mutation in gene responsible for producing NADPH oxidase complex = Neutrophils cannot produce super-oxides (anti-microbial)
Clinical significance of Chronic granulomatous disease
- ABNORMAL NEUTROPHIL FUNCTION = cannot produce superoxides
- recurrent INFECTIONS in lungs, tissues, skin, lymph nodes, liver
- infection contained in macrophage-rich GRANULOMAS bc no superoxides for killing
Additional testing for Chronic Granulomatous Disease
- Nitro-blue-tetrazolium reduction test
- Flow cytometry
Cause of Infectious Mononucleosis
Infection of B-lymphocytes by EPSTEIN-BARR VIRUS
PBS of Infectious Mononucleosis
- WBC increased
- Reactive lymphocytes
Additional testing for Infectious Mononucleosis
- Monospot POSITIVE
- Immunological testing = EBV specific antigens
Which non-malignant disorder may develop an anti-i/ cold agglutinin syndrome ?
Infectious mononucleosis
Leukemia is a __ condition involving __ tissue.
Leukemia is a MALIGNANT condition involving HEMATOPOIETIC tissue.
Define oncogenes
- Altered genes responsible for cell cycles/ proliferation/ regulation
- Mutations that lead to cancer = abnormal cell processes + uncontrolled cell growth
Explain the body’s mechanism against oncogenes
- tumor suppressor genes
- promotes apoptosis of irregular cells
Leukemia can occur secondary to which conditions ?
- Previous hematological disease (MPN, MDS, MM)
- Genetic (Fanconi’s AA, Down syndrome)
- Immunodeficiencies
MPN = Myeloproliferative neoplasms
MDS = Myelodysplastic syndrome
MM = Multiple Myeloma