Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in MPN Patients

PERIBLOOD-MPN is an observational, multi-center study that aims to collect data to develop a novel, minimally invasive diagnostic tool for myeloproliferative neoplasms (MPN) based on peripheral blood (PB) profiling of circulating hematopoietic stem and progenitor cells (cHSPCs) using single-cell RNA sequencing (scRNA-seq). Current diagnostic practice relies on bone marrow (BM) biopsy, a procedure that is invasive, technically demanding, and may be inconclusive in early or prefibrotic disease stages.

Prior work in the field has established a reference atlas of healthy cHSPC subtypes and a computational pipeline capable of identifying disease-specific transcriptional changes by quantifying deviations from this reference. This study will assess whether PB-based genomic profiling can accurately distinguish MPN from non-clonal cytoses, including secondary erythrocytosis or thrombocytosis.

Patients referred for a bone marrow biopsy due to suspected myeloproliferative neoplasm (MPN) will undergo PB collection for genomic profiling. The primary objective is to develop a PB-based test by comparing the new test's diagnoses to conventional BM-based diagnostics. The secondary objectives include evaluating its potential for MPN subtype classification and risk stratification, as well as assessing its ability to reduce the need for BM biopsies.