Symptoms and General Pathology

All Conditions

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Blood and Lymph Conditions

Diseases and Abnormalities at or Before Birth

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Rare Diseases

Syndrome

Hematologic Neoplasms

Cytopenia

Preleukemia

Myelodysplastic Syndromes

Bone Marrow Failure Disorders

Pancytopenia

Neoplastic Syndromes, Hereditary

Congenital Bone Marrow Failure Syndromes

Anemia

Leukopenia

Thrombocytopenia

Anemia, Aplastic

Hemoglobinuria

Hemoglobinuria, Paroxysmal

Bone Marrow Diseases

Hematologic Diseases

Leukocyte Disorders

Blood Platelet Disorders

Hemolysis

Anemia, Hemolytic

Infant, Newborn, Diseases

Genetic Diseases, Inborn

Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.

Undergo blood sample, hair follicle, and saliva collection

Biospecimen Collection

Bone Marrow Biopsy

Punch Biopsy

Buccal Swab

Clinical Evaluation

Genetic Counseling

Quality-of-Life Assessment

Electronic Health Record Review

Brittany Burnap

Clinical Trials Referral Office

Cecilia Y. Arana Yi, M.D.

James M. Foran, M.D.

Mrinal S. Patnaik, MBBS

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.

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 targets or pathways involved in precursor features of myeloid cancer and bone marrow failure.

IV. To use clinomics/genomics to better understand pathobiology and risk of disease progression.

V. To help better understand the implications of variants of unknown significance using computational biology and functional studies.

VI. To utilize normal, age and sex matched controls to validate genetic and epigenetic testing carried out under this protocol (essential for accurate data analysis).

VII. To assess frailty in patients with clonal hematopoiesis in order to validate genetic and epigenetic testing completed under this protocol as objective assessments of frailty and aging in comparison to standard of care frailty and geriatric assessments.

OUTLINE:

Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

Assessed by the number of subjects whose cytopenias are persistent or progressive over the course of the study

Assessed by the number of subjects who have evolved to MDS over the course of the study

Assessed by the number of subjects who have evolved to AML over the course of the study

Mayo Clinic

Principal Investigator

Skin and Connective Tissue Diseases

Gland and Hormone Related Diseases

Breast Neoplasms

Melanoma

Ovarian Neoplasms

Neuroendocrine Tumors

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Neoplasms by Histologic Type

Neoplasms, Nerve Tissue

Nevus, Pigmented

Nevus

Nevi and Melanomas

Skin Neoplasms

Skin Diseases

Breast Diseases

Endocrine Gland Neoplasms

Ovarian Diseases

Adnexal Diseases

Genital Diseases, Female

Genital Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Genital Neoplasms, Female

Urogenital Neoplasms

Endocrine System Diseases

Gonadal Disorders

Ovarian Cancer

Neuroendocrine Tumor

Neuroepithelioma

This study will look at genetic changes which occur in the development of male and female breast cancer and other cancer. It will use a new technology called DNA microarray hybridization that looks at a wide array of genes to identify disease-associated patterns in the human genome (complete set of human genes). Numerous studies have linked particular genes to a given disease, but there is very little information on patterns of gene expression (production of proteins from genetic coding) in the entire human genome.

Pinpointing genetic abnormalities in disease may help classify different forms of cancer and perhaps lead to new avenues of treatment or prevention. A primary goal of this study will be to create a database of gene expression for human cancers and other disorders that will provide the basis for finding genetic abnormalities in disease.

Tumors specimens used in this study will be taken from tissues biopsied from patients with breast, colon cancer, sarcomas or melanoma as part of their routine care. Patients in the study will be among those receiving care at the: Department of Oncology, University Hospital, University of Lund, Sweden (breast cancer); Department of Medicine, University of Michigan, Ann Arbor, Michigan (breast cancer); Surgery Branch, National Cancer Institute, Bethesda, Maryland (melanoma), Johns Hopkins Univ. (colon cancer), Memorial Sloan Kettering (sarcoma).

Patients in the study will have a family history taken and will complete a questionnaire. Some patients will be asked to have a blood test. Breast cancer patients will have a mammogram if one has not been done within the last year.

The purpose of our study is to make use of a novel technology that the Cancer Genetics Branch of the NHGRI has been a leader in developing. This technology for genome-wide expression analysis, DNA microarray hybridization, is the focus of our protocol. We will access tissue banks collected by our collaborators that contain excess tissues obtained during routine clinical care. Specimens will be processed for large-scale gene expression analysis and DNA copy number determination using DNA microarrays. The development and analysis of this gene expression and gene copy number database are the primary purpose of this study. Currently available and new bioinformatics tools will be applied to the data for the characterization of disease subsets (e.g., early vs. advanced stage cancer) as well as to mine the data for specific genes which are linked to given disease states.

Microarray Analysis for Human Genetic Disease

National Human Genome Research Institute (NHGRI)

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Pre-myeloid Cancer and Bone Marrow Failure Clinic Study	NCT02958462	Myeloid Maligna... Inherited Bone ... Clonal Expansio... Cytopenia Bone Marrow Fai... Clonal Cytopeni... Clonal Hematopo... Hematologic Neo... Hematopoietic a... Hereditary Neop... Idiopathic Cyto... Idiopathic Dysp... Low Risk Myelod...	Biospecimen Col... Bone Marrow Bio... Punch Biopsy Buccal Swab Clinical Evalua... Genetic Counsel... Quality-of-Life... Electronic Heal...	18 Years -	Mayo Clinic
Pre-myeloid Cancer and Bone Marrow Failure Clinic Study	NCT02958462	Myeloid Maligna... Inherited Bone ... Clonal Expansio... Cytopenia Bone Marrow Fai... Clonal Cytopeni... Clonal Hematopo... Hematologic Neo... Hematopoietic a... Hereditary Neop... Idiopathic Cyto... Idiopathic Dysp... Low Risk Myelod...	Biospecimen Col... Bone Marrow Bio... Punch Biopsy Buccal Swab Clinical Evalua... Genetic Counsel... Quality-of-Life... Electronic Heal...	18 Years -	Mayo Clinic
Microarray Analysis for Human Genetic Disease	NCT00001898	Breast Neoplasm Hereditary Neop... Melanoma Ovarian Neoplas...		-	National Institutes of Health Clinical Center (CC)

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