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)

Clinical test	Frequency	Comments
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.