Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
Mayo Clinic
Summary
This clinical trial tests next generation sequencing (NGS) for the detection of precursor features of pre-myeloid cancers and bone marrow failure syndromes. NGS is a procedure that looks at relevant cancer associated genes and what they do. Finding genetic markers for pre-malignant conditions may help identify patients who are at risk of pre-myeloid cancers and bone marrow failure syndromes and lead to earlier intervention.
Description
PRIMARY OBJECTIVES: I. To use genomics and functional translational studies to diagnose, prognosticate and potentially offer therapeutic directives for patients with precursor features of myeloid neoplasms (myelodysplastic syndrome \[MDS\], myeloproliferative neoplasms \[MPN\], MDS/MPN overlap syndrome) and germline predisposition/bone marrow failure states, who do not meet the criteria for the diagnosis of these cancers as of yet. II. To identify patients with precursor myeloid malignancies and bone marrow failure syndromes. III. To examine the utility of NGS methods for discovery of targe…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
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 trans…
Interventions
- ProcedureBiospecimen Collection
Undergo blood sample, hair follicle, and saliva collection
- ProcedureBone Marrow Biopsy
Undergo a bone marrow biopsy
- ProcedurePunch Biopsy
Undergo a skin punch biopsy
- ProcedureBuccal Swab
Undergo a saliva or buccal swab
- OtherClinical Evaluation
Undergo clinical assessment
- OtherGenetic Counseling
Receive genetic counseling
- OtherQuality-of-Life Assessment
Locations (3)
- Mayo Clinic in ArizonaScottsdale, Arizona
- Mayo Clinic in FloridaJacksonville, Florida
- Mayo Clinic in RochesterRochester, Minnesota