Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

  • End date
    Sep 10, 2025
  • participants needed
  • sponsor
    Mayo Clinic
Updated on 10 July 2022


The use of genomics and functional translational studies is to identify and diagnose patients with precursor features of myeloid neoplasms and inherited bone marrow failure syndromes.


The pre-myeloid cancer and bone marrow failure clinic is an individualized medicine clinic conceptualized for the early detection of myeloid malignancies such as, myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), MDS/MPN overlap syndromes and acute myeloid leukemia (AML). Using next-generation sequencing technologies, clonal hematopoietic stem cell changes can be detected early on in myeloid malignancies. These changes are currently classified as follows:

  1. Idiopathic cytopenias of unclear significance (ICUS).
  2. Clonal cytopenias of unclear significance (CCUS).
  3. Clonal hematopoiesis of indeterminate prognosis (CHIP).
  4. Bone marrow failure syndromes with risk for clonal myeloid transformation.
  5. Familial/Germline syndromes with increased risk for myeloid malignancies.

This clinic blends next-generation sequencing technologies with functional studies to help identify, prognosticate and define management plans; including early intervention strategies, for affected patients.

Condition Myeloid Malignancy, Inherited Bone Marrow Failure Syndrome, Clonal Expansion, Cytopenia
Treatment Follow Up
Clinical Study IdentifierNCT02958462
SponsorMayo Clinic
Last Modified on10 July 2022


Yes No Not Sure

Inclusion Criteria

Patients with
Idiopathic cytopenias of unclear significance (ICUS)
Clonal hematopoiesis of indeterminate significance (CHIP)
Age related clonal hematopoiesis (ARCH)
Clonal cytopenias of unclear significance (CCUS)
Marrow failure syndromes with myeloid malignancy predisposition- telomere dysfunction, chromosomal breakage disorders, etc
Germ line inherited syndromes with risk for malignant transformation
Low Risk Myelodysplastic Syndromes (MDS)

Exclusion Criteria

Patients who are unable to understand and sign the Informed Consent Form
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Step 1 Connect with a study center
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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