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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.


Leukemia, Myelodysplastic Syndromes, Myeloproliferative Syndrome

Recruitment Status


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

Eligibility Criteria

Inclusion Criteria:

Age: birth to < 30 years of age


-- 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


Intervention Type

Intervention Name


Genomic profiling



Min Age


Max Age

30 Years

Download Date

May 7, 2024

Principal Investigator

Jessica A. Pollard

This field has been modified from to show a contact specific to Boston Children's.

Primary Contact Information

Yana Pikman, MD

This field has been modified from to show a contact specific to Boston Children's.

For more information on this trial, visit


For more information and to contact the study team:

Protocol For Genomically Profiling, Collecting, Archiving And Distributing Blood And Bone Marrow Specimens From Children And Young Adults With Hematologic Malignancy NCT04968834 Yana Pikman, MD 617-632-4754