Investigation (MDS)
A history and physical examination are the first investigations.
History of:
- Pallor, bruises, petechiae and infection ( due to cytopenias)
- Previous history of:
- Known abnormal constitutional karyotype
- Bone marrow failure syndrome
- Therapy for a previous malignancy
- Family history of related problems
On examination:
- Usually no hepatosplenomegaly or adenopathy
- Possible bruising
- Signs of infection
Blood work
- Anemia (sometimes normal Hb level)
- Macrocytosis
- Elevated fetal Hb levels.
Bone Marrow Biopsy
- Diagnosis should be confirmed by at least 2 BM examinations
Cytogenetic abnormalities
- Monosomy 7 is the most common cytogenetic abnormality (poor risk), trisomy 8 or normal karyotype predict a more stable course. Complex abnormalities may be present.
- If AML specific cytogenetic abnormalities are present. In the presence of these abnormalities the patient is considered to have AML and not myelodysplasia:
