Anemia, Bone marrow failure, MDS, MPN Flashcards
what is the purpose of diepoxybutane or mitomycin C testing?
to evaluate chromosome fragility that is the hallmark of Fanconi anemia
Name some drug classes associated with aplastic anemia
NSAIDS (diclofenac, indomethacin, phenylbutazone), anticonvulsants, PTU, antibiotics (chloramphenicol), gold salts
True or false: PNH clones can be present in MDS and AA
True. These are less likely to be seen in younger patients with congenital or acquired bone marrow failure. Their presence may indicate increased response to immunosuppressive therapy in AA. In MDS,
True or false: post-hepatitis/AA syndrome is usually caused by Hepatitis C
False. Usually results from fulminant non-viral hepatitis
Describe bone marrow morphology of someone with aplastic anemia
<25% of normal cellularity OR <50% if fewer than 30% are hematopoietic cells (note: sometimes increased lymphocytosis can be seen in AA, mostly mature T lymphocytes, may need to distinguish from lymphoma). Usually there are no dysplastic changes, however sometimes erythroid dysplasia can be seen. CD 34 positive blasts are rare. Chromosomal changes are
True or false: aplastic anemia does not usually respond to G-CSF, EPO or steroids
True. Most patients already have higher EPO levels. While G-CSF does not improve rates of heme response or survival in several randomized trials, it can be used in some patients to increase ANC. The only role for steroids is in cases of serum sickness due to ATG. Some patients can be treated with androgens (see inherited bone marrow failure), though this is not first line therapy.
What is Fanconi anemia?
Inherited bone marrow failure syndrome, autosomal recessive, patients present with
Pediatric fever syndromes
- Familial Mediterranean Fever
- Majeed syndrome
Describe the disorders of neutrophil (granulocyte) function
- Chediak Higashi
- Job’s syndrome
- Congenital granulomatous disease
- Leukocyte adhesion deficiency
- MPO deficiency
What lysosomal storage disorders can have hematologic effects?
- Gaucher Disease
- Niemann Pick
What is the function of the MYD88 gene? What cancers are associated with mutations of this gene?
Transfers signals from Toll-like and IL-1 receptors,
Can also be associated with DLBCL or marginal zone lymphoma
What type of HSCT is desired for AA?
Allo, matched sibling donor, source= bone marrow
What are three chromosomal abnormalities that are diagnostic for AML, regardless of dysplasia or elevated blast count?
t(8;21), t(15;17), inv(16)
What is the 5q deletion syndrome? What is prognosis?
- F»M (overall however, more men than women have MDS)
- deletion long arm chromosome 5q
- hypolobated megakaryocytes
- hypoplastic erythroid precursors
- favorable prognosis
Is it possible for children and young adults to have MDS?
Yes, in these cases usually associated with germline defect in DNA repair (Li Fraumeni, Bloom syndrome; Down syndrome) or inherited bone marrow failure (Fanconi anemia, Schwachman Diamond)