Overview

This study aims to validate a novel, non-invasive diagnostic approach for blood and bone marrow malignancies using single-cell RNA sequencing of circulating hematopoietic stem and progenitor cells (cHSPCs) from peripheral blood. Building on prior work defining normal cHSPC profiles in healthy individuals, the study introduces a pipeline for identifying blood pathologies, with a focus on improving the diagnosis and subclassification of myelodysplastic syndromes (MDS). A multi-center clinical trial is proposed to evaluate the method's ability to predict bone marrow results in patients with cytopenia, potentially reducing reliance on bone marrow biopsies.

Eligibility

Inclusion Criteria:

• Platelets < 150 × 109/L or
• Absolute neutrophil count < 1.8 × 109/L or
• Hemoglobin (Hgb) < 13 g/dL (males) and < 12 g/dL (female) and
• For all genders, no evidence of Iron, folinic acid, or B12 deficiency
• All subjects should be referred for BM analysis

Exclusion Criteria:

• Previous diagnosis of leukemia (AML, MPN, ALL, CLL, MGUS/MM or any other gammopathy)
• Lymphocytes>5000/ul
• If patients are recruited after
• Diagnosis of any disease related therapy 3 month prior to enrollment