Recommended hematologic surveillance for patients with SDS
Goal of surveillance: identify patients with high risk features before the development of overt myeloid malignancies . | ||
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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 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 |
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.