Flashcards in Myelodysplastic Syndromes + Aplastic Anaemia Deck (34)
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1
Clinical Features of Myelodysplastic Syndromes
BM failure and Cytopenias: infection, bleeding, fatigue
Hypercellular BM
Defective cells (RBC, WBC, Platelets) - expanded in later Q
2
How are RBC's defective in Myelodysplastic Syndromes?
There is dyserythropoiesis of RBC: may see RING SIDEROBLASTS (abnormally nucleated blast surrounded by iron granule ring)
3
How are WBC's defective in Myelodysplastic Syndromes?
Myelokathexis of neutrophils and precursors: hypogranulation, Pseudo-Pelger-Huet anomaly (bilobed/hyposegmented neutrophils)
4
How are platelets defective in Myelodysplastic Syndromes?
Dysplastic megakaryocytes with hypolobated nuclei, micromegakaryocytes
5
What are Myelodysplastic Syndromes?
A heterogenous group of progressive disorders featuring ineffective proliferation and differentiation of abnormally maturing myeloid stem cells.
Characterized by: peripheral cytopenia, qualitative abnormalities of cell maturation; risk of AML transformation
6
What age group do Myelodysplastic Syndromes typically affect and how quickly do symptoms develop?
Elderly; symptoms usually develop over weeks/months
7
What 3 factors contribute to the prognosis of Myelodysplastic Syndromes?
BM blast % (lower is better), karyotype, degree of cytopenia
8
What is the Mortality rule of 1/3 for Myelodysplastic Syndromes?
1/3 die from infection, 1/3 die from bleeding, 1/3 die from Acute Leukaemia
9
What percentage of patients with Myelodysplastic Syndromes develop Acute Myeloid Leukemia?
50%
10
When does a Myelodysplastic Syndrome become AML? (in relation to blast %)
> 20% blasts = AML
(under 5% = normal)
11
What are the treatments for Myelodysplastic Syndromes?
Supportive: transfusion, SPO, G CSF, ABx
Biological modifiers: immunosuppressive drugs, Lenalidomide, Azacytidine (hypomethylating agent)
Chemotherapy: Hydroxyurea/Carbamide, Cytarabine
Allogenic SCT (Stem Cell Therapy)
12
What are the subtypes of Myelodysplastic Syndromes, in order of progression? (May just be easier to look at the table on pg22 for this bit!)
Refractory Anaemia, Refractory Anaemia with Ringed Sideroblasts (RA +RS), Refractory Cytopenia with multilineage dysplasia (RCMD), RCMD + RS, Refractory Anaemia with excess blasts (RAEB I), RAEB II, RAEB III, MDS with 5q deletion, MDS Unclassified.
13
Blood and Bone Marrow features for Refractory Anaemia (RA)
Blood: Anaemia, no blasts
Bone Marrow: Erythroid dysplasia with less than 5% blasts
14
Blood and Bone Marrow features for Refractory Anaemia + Ringed Sideroblasts (RA + RS)
Blood: Anaemia, no blasts
Bone Marrow: Erythroid dysplasia with >15% ringed sideroblasts
15
Blood and Bone Marrow features for Refractory Cytopenia with multilineage dysplasia (RCMD)
Blood: Cytopenia in >= 2 cell lines
Bone Marrow: Dysplasia in > 10% cells in >= 2 cell lines
16
Blood and Bone Marrow features for RCMD + RS
Blood: Cytopenia in >= 2 cell lines
Bone Marrow: Dysplasia in >10% cells in >= 2 cell lines + >15% ringed sideroblasts
17
Blood and Bone Marrow features for RAEB I
Blood: Cytopenias, less than 5% blasts, no auer rods
Bone Marrow: Dysplasias, 5-9% blasts
18
Blood and Bone Marrow features for RAEB II
Blood: Cytopenias or 5-9% blasts, or Auer rods
Bone Marrow: Dysplasias; 10-19% blasts or Auer rods
19
Blood and Bone Marrow features for MDS with 5q deletion
Blood: Anaemia, normal or increased platelets
Bone Marrow: megakaryocytes with hypolobated nuclei and less than 5% blasts
20
Blood and Bone Marrow features for MDS Unclassified
Blood: Complex - cytopenias, no blasts, no Auer Rods
Bone Marrow: Complex - myeloid or megakaryocytic dysplasia, less than 5% blasts
21
What is Aplastic Anaemia?
The inability of BM to produce adequate blood cells.
Typically refers to deficient RBC's only, but patients can have a pancytopenia as well.
Hypocellular BM: Haemaopoeitic stem cell numbers are reduced in BM trephines
22
What are the symptoms of Aplastic Anaemia?
Anaemia: tiredness, palor, AF, SOB etc.
Leucopenia: increased infections
Thrombocytopenia: easy bruising + bleeding problems
23
Aplastic Anaemia is Split into Primary and Secondary. What are the 2 subsections of primary, and which is more common? What percentage of AA is secondary?
Primary: Idiopathic (70%), Inherited (10%)
Secondary: 10 - 15%
24
Causes of Secondary Aplastic Anaemia
Malignant infiltration, Radiation, AI (SLE), Drugs (Chemo), Viruses (Parovirus, Viral Hep.), Benzene chemicals
25
4 main Inherited Aplastic Anaemias and method of inheritance. Which condition is the most common.
Fanconi Anaemia - Autosomal recessive
Dyskeratosis - X linked recessive (sometimes AR or AD)
Schwachman-Diamond Syndrome - Autosomal Recessive
Diamond Blackfan Syndrome - Autosomal Dominant with incomplete penetrance
Most common = Fanconi Anaemia
26
Other than AA, what are the DDx of Pancytopenia with hypocellular marrow?
Hypoplastic MDS/AML; Hypocellular ALL; Hairy Cell Leukaemia; Atypical Mycobacterial Infection; Anorexia Nervosa/Starvation; Idiopathic Thrombocytopenic Purpura
27
What are the Camitta Criteria for Severe Aplastic Anaemia?
Bone Marrow less than 20% cellularity + 2/3 peripheral blood features:
Reticulocytes under 1%
Neutrophils under 0.5%
Platelets under 20
28
Clinical Triad of Dyskeratosis Congenita
Skin pigmentation, nail dystrophy, oral leukoplakia
90% will also have BM failure
29
Somatic presentations of Fanconi Anaemia (found in 60-70% of cases)
Skeletal abnormalities (small thumbs), short stature, renal malformations, microopthalmia, skin pigmentation (café au lait spots, hypopigmented spots), microcephaly, hypogonadism, congenital heart defects
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