Table 2.

Recommended hematologic surveillance for patients with SDS

Goal of surveillance: identify patients with high risk features before the development of overt myeloid malignancies
High risk features: 
1) Falling blood counts, particularly with increasing bone marrow cellularity 
2) Progressive bone marrow dysplasia (particularly in the erythroid lineage) 
3) Large and/or rapidly expanding TP53-mutated clones 
4) High-risk cytogenetic abnormalities (eg, -17p, -7/-7q, complex karyotype) 
Goal of surveillance: identify patients with high risk features before the development of overt myeloid malignancies
High risk features: 
1) Falling blood counts, particularly with increasing bone marrow cellularity 
2) Progressive bone marrow dysplasia (particularly in the erythroid lineage) 
3) Large and/or rapidly expanding TP53-mutated clones 
4) High-risk cytogenetic abnormalities (eg, -17p, -7/-7q, complex karyotype) 
Clinical testFrequencyComments
Peripheral blood monitoring Every 3-6 mo  
CBC with differential  CBC monitoring alone is inadequate for hematologic surveillance of patients with SDS 
Reticulocyte count   
Bone marrow examination Every 12 mo   
Aspirate  Assessment of morphologic dysplasia and blast count 
Core biopsy  Evaluation of marrow cellularity, dysplasia, and blast count 
Flow cytometry  Characterization of immature and aberrant immunophenotypic myeloid populations 
Somatic NGS panel  Detection of pathogenic somatic mutations, particularly involving TP53 
Conventional karyotype  Detection of clonal cytogenetic abnormalities (eg, i7q, del20q) 
FISH  Increases sensitivity of detecting cytogenetic abnormalities 
TP53 immunostain Optional Screen for TP53 missense mutations 
Microarray Optional Detection of copy number alterations, particularly involving 17p 
Clinical testFrequencyComments
Peripheral blood monitoring Every 3-6 mo  
CBC with differential  CBC monitoring alone is inadequate for hematologic surveillance of patients with SDS 
Reticulocyte count   
Bone marrow examination Every 12 mo   
Aspirate  Assessment of morphologic dysplasia and blast count 
Core biopsy  Evaluation of marrow cellularity, dysplasia, and blast count 
Flow cytometry  Characterization of immature and aberrant immunophenotypic myeloid populations 
Somatic NGS panel  Detection of pathogenic somatic mutations, particularly involving TP53 
Conventional karyotype  Detection of clonal cytogenetic abnormalities (eg, i7q, del20q) 
FISH  Increases sensitivity of detecting cytogenetic abnormalities 
TP53 immunostain Optional Screen for TP53 missense mutations 
Microarray Optional Detection of copy number alterations, particularly involving 17p 

A shorter interval between bone marrow biopsies may be indicated if HRFs are present.

Close Modal

or Create an Account

Close Modal
Close Modal