Testing genetic markers for early detection of myeloid cancers and bone marrow failure

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

Not applicable Interventional Mayo Clinic · NCT02958462

This study is testing if looking for specific genetic markers in blood and tissue samples can help find myeloid cancers and bone marrow issues earlier in people who show early signs but aren't diagnosed yet.

Quick facts

PhaseNot applicable
Study typeInterventional
Enrollment2000 (estimated)
Ages18 Years and up
SexAll
SponsorMayo Clinic Academic / other
Locations3 sites (Scottsdale, Arizona and 2 other locations)
Trial IDNCT02958462 on ClinicalTrials.gov

What this trial studies

This clinical trial utilizes next generation sequencing (NGS) to identify genetic markers associated with pre-myeloid cancers and bone marrow failure syndromes. The study aims to diagnose and prognosticate patients who exhibit precursor features of myeloid neoplasms but do not yet meet diagnostic criteria. Participants will undergo various biospecimen collections, including blood samples and biopsies, to facilitate genomic analysis. The findings may lead to earlier interventions and a better understanding of disease progression and risk factors.

Who should consider this trial

Good fit: Ideal candidates include patients with idiopathic cytopenias, clonal hematopoiesis, or inherited syndromes that predispose them to myeloid malignancies.

Not a fit: Patients under 18 years of age will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enable earlier detection and intervention for patients at risk of developing myeloid malignancies and bone marrow failure syndromes.

How similar studies have performed: Other studies utilizing genomic approaches for early detection of malignancies have shown promise, indicating potential success for this novel approach.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Patients with idiopathic cytopenias of unclear significance (ICUS)
* Patients with clonal hematopoiesis of indeterminate significance (clonal hematopoiesis of indeterminate potential \[CHIP\]), including the recently described CHIP syndrome called VEXAS (vacuoles, E1 ubiquitin ligase, X chromosomal, autoimmune and somatic)
* Patients with clonal cytopenias of undetermined significance (CCUS)
* Marrow failure syndromes with myeloid malignancy predisposition - telomere dysfunction, chromosomal breakage disorders
* Germ line inherited syndromes with risk for malignant transformation - GATA2, CEBPA, ETV-6, RUNX1, JAK2, PF6, etc.
* Low risk MDS (idiopathic dysplasia of unclear significance)
* Family member of a patient with one of the above conditions
* Patient at high risk or suspected of developing one of the above conditions

Exclusion Criteria:

* Patients under 18 years of age

Where this trial is running

Scottsdale, Arizona and 2 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Myeloid MalignancyInherited Bone Marrow Failure SyndromeClonal ExpansionCytopeniaBone Marrow Failure SyndromeClonal Cytopenia of Undetermined SignificanceClonal Hematopoiesis of Indeterminate PotentialHematologic Neoplasms
Last reviewed 2026-06-10 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.