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Pathology by week > W26 - myelodysplastic syndrome > Flashcards

W26 - myelodysplastic syndrome Flashcards

1
Q

What are myelodysplastic syndromes (MDS)

A

Biologically heterogeneous group of acquired haemopoietic stem cell disorders, characterised by the development of a clone of marrow SCs with abnormal maturation

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2
Q

What are the 3 end results of myelodysplstic syndromes?

A

functionlly defective blood cells and numerical reduction leads to:

  1. cytopaenia(s)
  2. Functional abnormalities of erythroid, myeloid, and megakaryocyte maturation
  3. Increased risk of transformation to leukaemia
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3
Q

Myelodysplastic synromes - do they typically affect young/elderly?

A

Elderly

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4
Q

Symptoms of myelodysplastic syndromes

A

similar to BM failure

  • low red cells (fatigue, SOB, anaemia, pallor)
  • low WCC (recurrent infections)
  • low platelets (recurrent bleeds)
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5
Q

5 blood and BM features of MDS

A
  1. Pelger-Huet anomaly (bilobed neutrophils)
  2. Dysgranulopoieses of neutrophils
  3. Dyserythropoiesis of red cells
  4. Dysplastic megakaryocytes – e.g. (micro-megakaryocytes in BM)
  5. Increased proportion of blast cells in marrow (normal < 5%)
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6
Q

What does peripheral blood here show?

A

Pelger-Huet anomaly (bilobed neutrophil) => MDS

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7
Q

What does this BM slide show?

A

desgranulopoiesis (only 4-5 granules, should be much more) => MDS

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8
Q

What do these 2 show?

A

left = red cell precursors joined by cytoplastic bridge

right = red cell precusor where cytoplsm is blebbing

= dyserythropoiesis => MDS

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9
Q

What does this BM slide show?

A

Ringed sideroblasts - iron loaded mitochondria stained with Prussian Blue => MDS

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10
Q

Peripheral smear - what do you see?

A

2 blast cells with auer rods (rod-like structure) = ACUTE MYELOID LEUKAEMIA (AML)

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16
Q

How is MDS prognosis determined? Name the 5 criteria

A

using the IPSS - International Prognostic Scoring System

  1. BM blast %
  2. Karyotype
  3. Hb (g/L)
  4. Platelet count
  5. Neutrophil count
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17
Q

Name 1 driver mutation in MDS? what is the importance of identifying these?

A

TP53

carry prognostic significance

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18
Q

Rule of thumb for outcome of MDS

A

1/3 die from infection

1/3 die from bleeding

1/3 die from acute leukaemia

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19
Q

Treatments (4) for MDS

A
  1. Supportive (blood products, abx, growth factors like epo for RBC, GCSF for neutrophil)
  2. Biological modifiers (immunosuppressive therapy)
  3. Allogeneic SCT (if young + matched donor)
  4. Intestive chemotherapy (if residual healthy stem cell)
    - or low dose if intensive is unsuitable
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20
Q

Which one of the following is true?

  1. Myelodysplasia has a bi-modal age distribution
  2. The primary modality of treatment of MDS is by intensive chemotherapy
  3. One third of MDS patients can be expected to die from leukaemic transformation
  4. There is no good correlation between the severity of the cytopenias and the overall life expectancy
  5. White cell function is frequently well preserved in MDS
A

3.One third of MDS patients can be expected to die from leukaemic transformation

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21
Q

describe the right and left BM

A

left = normal BM (50% is fat, the other pink stuff are cells, bigger cells are megakaryocytes)

right = aplastic BM (hypocellular)

22
Q

Aplastic anaemia

  • incidence
  • peak incidence (age)
A

Aplastic anaemia

  • incidence:

2-5 cases/million/yr

  • peak incidence (age):

2 peaks: 15-24 yrs, >60 yrs

23
Q

4 classifications of aplastic anaemia

A

1. Idiopathic (most common, 70-80%)

2. Inherited (Dyskeratosis congenita, Fanconi anaemia, etc)

3. Secondary:

  • Radiation
  • Drugs (i.e. cytotoxic drugs, chlorampheniocol)
  • Viruses (i.e. hepatitis)
  • Immune (i.e. SLE)

4. Miscellaneous (i.e. Paroxysmal nocturnal haemoglobinuria, thymoma)

24
Q

Idiopathic aplastic anaemia pathophysiology

A

Failure of BM to produce blood cells

Thought to be an immune attack = B or T cell attack against multipotent HSCs

25
Q

Clinical presentation (3) of aplastic anaemia

A
  1. Anaemia = Fatigue, breathlessness
  2. Leucopenia = Infections
  3. Platelets = Easy bruising/bleeding
26
Q

How is aplastic anaemia diagnosed?

A
  1. Blood shows cytopaenias
  2. BM showed hypocellularity
28
Q

What is the criteria used for diagnosing the severity of aplastic anaemia?

Name the criteria

A

Camitta criteria:

2 out of 3 peripheral blood features:

  1. Reticulocyte
  2. Neutrophils
  3. Platelets

+ BM <25% cellularity

29
Q

Management (6) of aplastic anaemia (BM Failure)

A
  1. Remove cause, if possible (i.e. radiation)
  2. Supportive (blood products, abx, iron chelation therapy if iron overloaded from RBC transfusion)
  3. Immunosuppressive therapy
  4. Drugs to promote marrow recovery
  5. SCT (if young + matched donor)
  6. Other tx for refractory cases (biologic therapies)
30
Q

Aplastic anaemia - who would benefit from a SCT?

A

Younger patient with donor (80% cure)

% falls if match isn’t a sibling donor and patient age >40 y.o.

31
Q

Diagnosis?

A

Thumb problems

Café au lait spots

Microcephaly

= Fanconi anaemia

32
Q

Regarding Aplastic Anaemia – which one answer is true?

  1. Immunosuppressive therapy is only used to treat a minority of patients with aplastic anaemia.
  2. If treated with immunosuppression, then relapse of Aplastic Anaemia occurs in less than 15% of cases
  3. The cure rate of AA treated by sibling-related allogeneic stem cell transplantation in a patient under 40 years old is > 70%.
  4. Severe aplastic anaemia is differentiated from non-severe aplastic anaemia on the basis of the acquired cytogenetic abnormalities in the bone marrow.
  5. Leucodepletion of cellular blood products is only exceptionally undertaken for patients with aplastic anaemia.
A
  1. The cure rate of AA treated by sibling-related allogeneic stem cell transplantation in a patient under 40 years old is > 70%.
33
Q

3 complications following immunosuppressive therapy for aplastic anaemia

A
  1. Relapse of AA (35%)
  2. Clonal haematological disorders => MDS, leukaemia,

PNH (may be transient)

  1. Solid tumours (3%)
34
Q

Diagnosis?

A
  • Skin pigmentation
  • Nail dystrophy
  • Leukoplakia

= Dyskeratosis congenita

35
Q

Inherited BM syndromes causing pancytopaenia - name 2

A
  1. Fanconi anaemia
  2. Dyskeratosis congenita
36
Q

The most common form of inherited aplastic anaemia is…

A

Fanconi anaemia

37
Q

Fanconi anaemia:

  1. mode of inheritance?
  2. pathophysiology?
A

Fanconi anaemia:

  1. mode of inheritance = autosomal recessive or X-linked inheritance
  2. pathophysiology = multiple genes become mutated => abnormalities in DNA repair + chromosomal fragility/breaksage
38
Q

6 congenital abnormalities seen in children with Fanconi anaemia

A

Congenital malformations may occur in 60-70% of children with FA:

  1. Short Stature
  2. Hypopigmented spots and café-au-lait spots
  3. Abnormality of thumbs
  4. Microcephaly or hydrocephaly
  5. Hyogonadism
  6. Developmental delay
  • No abnormalities 30%
40
Q

5 complications of Fanconi anaemia

A

Aplastic anaemia (90%)

Leukaemia (10%)

Liver disease

Myelodysplasia (32%)

Cancer (epithelial)

41
Q

Dyskeratosis Congenita presentation (6)

A
  1. BM failure
  2. Cancer predisposition
  3. Somaitc abnormalities

^ similar to FA. but also:

  1. Skin pigmentation
  2. Nail dystrophy
  3. Leukoplakia
43
Q

Somatic abnormalities/complications in Dyskeratosis Congenita

A
  1. Abnormal skin pigmentation (90%)
  2. Nail dystrophy (90%)
  3. BM failure (85%)
  4. Leukoplakia (80%)

^ most common features!

44
Q

Dyskeratosis Congenita - pathophysiology

A

the structrues at the end of the chromosome, called telomeres, are damaged and shortened in length. Temoreres are imp to ensure the longevitiy of the chromosome and proliferation of the cells and without it, the chr becomes very fragile

45
Q

Dyskeratosis Congenita -Name the genetic patterns of inheritance

A

3 genetic patterns of inheritance:

  1. X-linked recessive trait
  2. Autosomal dominant trait
  3. Autosomal recessive trait
46
Q

Other than dyskeratosis congenita, in what BM failure condition have shortened telomeres been seen?

A

Idiopathic aplastic anaemia

47
Q

Which one of the following is true?

  1. Telomeric shortening is a feature of both idiopathic aplastic anaemia and dyskeratosis congenita
  2. Development of malignancy is an uncommon complication of Fanconi Anaemia
  3. A single genetic defect has been identified as the underlying cause for Fanconi Anaemia
  4. Fanconi Anaemia is usually inherited in an autosomal dominant fashion
  5. Telomeric function is considered to be unimportant in the pathophysiology of Dyskeratosis Congenita.
A
  1. Telomeric shortening is a feature of both idiopathic aplastic anaemia and dyskeratosis congenita

Pathology by week (70 decks)

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