Myelodysplasia

Question 1

Define Myelodysplasia

Answer 1

Myelodisplastic syndrome is a group of diseases-clonal stem cells disorders, characterised by inefective and dysplastic haematopoesis

Different from AML, usually as less than 20% of stem cells are blasts
often a precursor to AML

MANY MANY forms
MDS with single lineage, MDS with several lineage

Question 2

Aetiology and risk factors of Myelodysplasia

Answer 2

Chromosomal abnormalities are very common in MDS-usually deletions of tumour supressor genes
80% are primary, but some can develop following chemo/radio
Tabacco and benzenes also can be cause
but pathogenesis is unclear

Risk factors
Over 65
Male>female
Chemo (alkalising agents), radio
DNA repair syndrome (fanconi)
Benzene
Aplastic anemia (can progress to MDS)

Question 3

Epidiemology of Myelodysplasia

Answer 3

about 20 in 100 000 in older adults
all age-4 in 100000

younger incidence age in china and Asia

Question 4

Signs and Sx of Myelodysplasia

Answer 4

Typically asymptomatic and incidental finding

Hx is non specific-and related to present deficiencies
fatigue, malaise, pallor
Bruising, bleeding, purpura
recurrent infection etc
Examination is often inconclusive-but can have RARELY hepatomegaly, splenomegaly, lymphadenopathy

Question 5

Investigation of Myelodysplasia

Answer 5

FBC-reveal one or more cytopenia (anaemia, thrombocytopenia, leukopenia)

Investigate more common causes-B12/folate, reticulocyte counts, HIV test

Bone marrow aspiration–
single or multilineage dysplasia present, but less than 20% blasts

Bone marrow core biopsy-hypercellular
cryogenic analysis-abnormal chromosomes