This research study is a genomic profiling and repository study for children and young adults who have leukemia, myelodysplastic syndrome (MDS) or myeloproliferative syndrome (MPS). Genes are the part of cells that contain the instructions which tell cells how to make the right proteins to grow and work. Genes are composed of DNA letters that spell out these instructions. Genomic profiling helps investigators understand why the disease develops and the instructions that led to its development. Understanding the genetic factors of the disease can also help investigator understand why the disease of some people can respond to certain therapies differently than others. The genomic profiling will be performed using bone marrow and blood samples that either have already been obtained during a previous clinical procedure or will be obtained at the time of a scheduled clinical procedure. Studying the genetic information in the cells of these samples will provide information about the origin, progression, and treatment of leukemia and myeloproliferative syndromes and myelodysplastic syndrome. Storing the bone marrow and blood samples will allow for additional research and genomic assessments to be performed in the future.



Eligible Ages
Under 30 Years
Eligible Genders
Accepts Healthy Volunteers

Inclusion Criteria

  • Age: birth to < 30 years of age - Diagnosis: -- Patient with acute leukemia, chronic leukemia, MDS/AML, myelodysplastic syndrome or myeloproliferative syndromes. Disease can be newly diagnosed or relapsed/refractory. - Pathology Criteria: -- Histologic confirmation of leukemia or myelodysplastic syndrome (MDS) or myeloproliferative syndrome (MPS) at the time of diagnosis or recurrence - Specimen Criteria: - Sufficient sample available for genomic profiling OR bone marrow aspirate/blood draw planned for clinical care which is anticipated to allow collection of minimum specimen for testing (See Section 6.1 for description of specimen requirements)

Exclusion Criteria

  • Insufficient leukemia or MDS specimen available for profiling from diagnosis or recurrence (See Section 6.1); or bone marrow evaluations NOT planned for clinical care; or peripheral blast percentage <20%, or clinical blood draw not planned

Study Design

Study Type
Observational [Patient Registry]
Observational Model
Time Perspective

Arm Groups

ArmDescriptionAssigned Intervention
GENOMIC PROFILING AND SPECIMEN BANKING REGISTRATION ARM The research study procedures include screening for eligibility, reviewing and signing this consent form, collecting patient information and clinical data, obtaining previously collected bone marrow and blood samples, and completing a brief optional Household Survey. Bone marrow and blood samples may also be collected in the future as part of your routine clinical procedures
  • Genetic: Genomic profiling
    Genomic profiling using CLIA assay

Recruiting Locations

Dana Farber Cancer Institute
Boston, Massachusetts 02215
Yana Pikman, MD

More Details

Dana-Farber Cancer Institute

Study Contact

Yana Pikman, MD
(617) 632-4754

Detailed Description

Pediatric patients with new diagnosis or relapsed/refractory acute leukemia, MDS/AML, chronic leukemia, myeloproliferative syndromes or myelodysplastic syndrome will be enrolled onto this study. At the time of enrollment, a sample of the leukemia will be submitted for genomic profiling using CLIA assay(s). This information will be returned to the treating oncologist. The study will collect follow up data on patient outcome and whether the genomic profiling influenced treatment. It is expected that about 100 people each year will take part in this research study at 8 medical centers in the United States


Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.