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Path - Haem > Myelodysplastic syndromes > Flashcards

Myelodysplastic syndromes Flashcards

1
Q

what is MDS/ myelodysplasia?

A

If it helps; a previous name was ‘pre-leukaemia’.

The symptoms are in line with this; they get your symptoms of cytopaenia (anaemia and co, easy bruising, increased infections) but not the symptoms of organ mets/infiltration (hepatic/splenomegaly etc) becuase it is not cancer, rather a bone marrow ‘failure’ (failure of maturation).

mean age is 65

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2
Q

list some Blood & Bone Marrow Morphological Features of MDS

A

The 3 cell lines affected:

  1. Dysgranulopoieses of neutrophils - means they dont form properly so can have a range of defects from no granules to macrocytosis to:
    Pelger-Huet anomaly (bilobed neutrophils)
  2. Dyserythropoiesis of red cells
    - basophilic stippling of rbcs
  3. Dysplastic megakaryocytes – e.g. micromegakaryocytes
    Increased proportion of blast cells in marrow (normal < 5%)

ringed sideroblasts
large agranular platelets

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3
Q

the presence of which cells are pathognomic in MDS?

what are they?

A

Blast cells in bone marrow and peripheral blood

Ringed sideroblasts: when BM aspirate is taken and stained, erythroid precursor cells who’s nuclei are surrounded by blue granules - haemosiderin deposits

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4
Q

which stain is required to see Ringed sideroblasts?

A

haemosiderin stain

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5
Q

The 2016 WHO classifcation of MDS subtypes includes which categories?

A

No. of dysplastic lineages/cell types (1-3)

No. of cytopaenias (1-3)

Ringed sideroblasts as % of marrow

BM and peripheral blood blasts %

Cytogenetics!! eg 5q- deletions and more

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6
Q

what does a high Prognostic Score mean in MDS?

A

The higher the score, the lower the survival and time to progress to AML

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7
Q

what kills in MDS?

A
  • 1/3 die from infection
  • 1/3 die from bleeding
  • 1/3 die from acute leukaemia
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8
Q

what are the subtypes of MDS?

A

MDS with single lineage dysplasia (old term refractory anaemia - low RBCs)

MDS with multilineage dysplasia (OT refractory cytopenia)

MDS with excess blasts (OT refractory anaemia with excess blasts) -> has 5-9% + BM blasts and similar peripheral blasts. other forms have <5% blasts.

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9
Q

How is MDS treated?

A

Supportive care:
EPO &/ G-CSF - replace cytopaenia
Blood transfusion
Abx

Lenalidomide pill - used to treat a rare type of MDS called deletion 5q

Azacitidine - hypomethylating agent - more serious MDS

Chemotherapy (oral or iv) followed by Autologous SCT - more serious MDS, with risk of AML not primary treatment.

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10
Q

what are the causea on BM failure?

A

Primary:
genetic and congenital

Secondary
Marrow infiltration:
Haematological ( leukaemia, lymphoma, myelofibrosis)
Non-haematological (Solid tumours, )
Radiation
Drugs
Chemicals (benzene)
Autoimmune
Infection (Parvovirus, Viral hepatitis
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11
Q

which drugs can cause BM failure?

A

PREDICTABLE (dose-dependent, common)
Cytotoxic drugs

IDIOSYNCRATIC (NOT dose-dependent, rare)
Phenylbutazone
Gold salts

ANTIBIOTICS
Chloramphenicol
Sulphonamide

DIURETICS
Thiazides

ANTITHYROID DRUGS
Carbimazole

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12
Q

WHAT IS THE EPIDEMIOLOGY OF APLASTIC ANAEMIA?

A

Bimodal distribution:

15 to 24 yrs
60 yrs

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13
Q

what is the aetiology of aplastic anaemia?

A

80% = Idiopathic

Failure of BM to produce blood cells

• “Stem cell” problem (CD34, LTC-IC) [Long-Term Culture-Initiating Cells]

• Immune attack:
Humoral or cellular (T cell) attack against multipotent haematopoietic stem cell.

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14
Q

how. does. aplastic anaemia present?

A

Triad:

  1. Anaemia Fatigue, breathlessness
  2. Leucopenia Infections
  3. Platelets Easy bruising/bleeding
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15
Q

how is severe and non-severe aplastic anaemia diagnosed?

A

Non-severe:

  1. Blood Cytopenia
  2. Marrow Hypocellular

note: other conditions eg AML can present like this

Severe:
2 out of 3 peripheral blood features

  1. Reticulocytes < 1% (<20 x 109/l)
  2. Neutrophils < 0.5 x 109/l
  3. Platelets < 20 x 109/l

Bone marrow <25% cellularity

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16
Q

how is APLASTIC ANAEMIA treated?

A
  1. Supportive:
    blood, abx, iron chelation
  2. Specific:
    A. Immunosuppressive therapy – older patient
    Anti-Lymphocyte Globulin (ALG)
    Ciclosporin

B. Androgens – oxymethalone
C. Stem cell transplantation

17
Q

what are the most common late COMPLICATIONS FOLLOWING IMMUNOSUPPRESSIVE THERAPY FOR AA?

A
  1. Relapse of AA (35% over 15 yrs)
  2. Clonal haematological disorders ~ 20% risk
    Myelodysplasia
    Leukaemia
    PNH (paroxysmal nocturnal haemoglobinuria)
  3. Solid tumours
18
Q

what are the presenting sx in fanconi anaemia?

A 
Short Stature
	Hypopigmented spots and café-au-lait spots
	Abnormality of thumbs
	Microcephaly or hydrocephaly
	Hyogonadism
	Developmental delay        
	No abnormalities 30%
19
Q

WHAT IS THE PATTERN OF INHERITANCE IN FANCONI ANAEMIA?

A

Autosomal recessive or X-linked inheritance

20
Q

List some complications of FA?

A

Aplastic anaemia - 90 by 9y/o

Myelodysplasia - 32% by age 17

Leukaemia - 16% by age 14

cancer - 5% by age 23

21
Q

In which condition do patients present with the Classical Triad of:
Skin pigmentation
Nail dystrophy
Leukoplakia

A

DYSKERATOSIS CONGENITA (DC)

22
Q

what is the MANAGEMENT protocol OF BONE MARROW FAILURE?

A
  1. Supportive: Blood/platelet transfusions
    Antibiotics
    Iron Chelation Therapy (possibly)
  2. Drugs to promote marrow recovery
    TPO receptor agonists (e.g. eltrombopag)
    ?Oxymetholone?
    ??Growth factors??
  3. Stem cell transplantation
23
Q

what is the pathophysiology of DYSKERATOSIS CONGENITA ?

A

Telomere shortening
- Telomere length is reduced marrow failure diseases but even more in DC

X-linked recessive trait — the most common inherited pattern (mutated DKC1 gene - defective telomerase function).

Autosomal dominant trait —

Autosomal recessive trait —

24
Q

what is the main difference betweeen DC and Idiopathic AA?

DYSKERATOSIS CONGENITA
aplastic anaemia

A

no Physical abnormalities in AA as in DC

genetic associations. identified in DC

25
Q

what is the pathophysiology of fanconi anaemia ?

A

Multiple mutated genes are responsible.

26
Q

what is the Treatment Algorithm for Severe Aplastic Anaemia?

A

A. <35 and sibling with matchign HLA:
- HLA matched stem cell transplant (HSCT)

if not. and has kids -> unrelated SCT

B. >50:
Ciclosporin (immunosuppresant) + ATG

Relapse -> unrelated SCT or. repeat above

C. 35-50 :
can try either regimen

Path - Haem (13 decks)

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