Studying Genes in Samples From Younger Patients With Acute Megakaryoblastic Leukemia

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by Children's Oncology Group
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: July 15, 2012
Last updated: May 5, 2015
Last verified: May 2015

This laboratory study is looking into genes in samples from younger patients with acute megakaryoblastic leukemia (AMKL). Studying samples of blood, tissue, and bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in RNA and identify biomarkers related to cancer

Condition Intervention
Childhood Acute Megakaryocytic Leukemia (M7)
Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies
Other: laboratory biomarker analysis

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Observational - NUP98/JARID1A as a Recurrent Aberration in Pediatric Acute Megakaryoblastic Leukemia

Resource links provided by NLM:

Further study details as provided by Children's Oncology Group:

Primary Outcome Measures:
  • Complete remission (CR, defined as less than 5% blasts in the bone marrow, with regeneration of tri-lineage hematopoiesis, plus absence of leukemic cells in the cerebrospinal fluid or elsewhere) [ Time Frame: Up to 8 weeks ] [ Designated as safety issue: No ]
  • Probability of event-free survival (pEFS, defined as time between diagnosis and first event, including non-remitting, death of any cause and second malignancy) [ Time Frame: Up to 8 weeks ] [ Designated as safety issue: No ]
  • Overall survival (pOS, defined as time between diagnosis and death) [ Time Frame: Up to 8 weeks ] [ Designated as safety issue: No ]

Estimated Enrollment: 100
Study Start Date: July 2012
Estimated Primary Completion Date: January 2100 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Cryopreserved specimens are analyzed for NUP98 fusion to NSD1, JARID1A, and TOP1, myeloid/lymphoid or MLL-rearrangements, and other gene expression profiling by RT-PCR and karyotyping or FISH. Results are then compared with each patient's outcome data.
Other: laboratory biomarker analysis
Correlative studies

Detailed Description:

Study Subtype: Ancillary/Correlative Observational Study Model: Cohort Time Perspective: Retrospective Biospecimen Retention: Samples With DNA Biospecimen Description: Cryopreserved mRNA Study Population Description: Samples from AAML0531 Sampling Method: Non-Probability Sample


I. To determine whether NUP98/JARID1A expression is a recurrent translocation in NUP98-rearranged cases in pediatric acute megakaryoblastic leukemia (AMKL).

II. To screen the Children Oncology Group (COG) samples for genetic aberrations in pediatric AMKL.


Cryopreserved specimens are analyzed for NUP98 fusion to NSD1, JARID1A, and TOP1, myeloid/lymphoid or mixed-lineage leukemia (MLL)-rearrangements, and other gene expression profiling by reverse transcriptase polymerase chain reaction (RT-PCR) and karyotyping or fluorescence in situ hybridization (FISH). Results are then compared with each patient's outcome data.


Ages Eligible for Study:   up to 30 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients diagnosed with acute megakaryoblastic leukemia.


Inclusion Criteria:

  • Cryopreserved specimens of pediatric patients diagnosed with acute megakaryoblastic leukemia
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01642069

United States, California
Children's Oncology Group Recruiting
Monrovia, California, United States, 91006-3776
Contact: Soheil Meshinchi, MD    800-422-6237      
Principal Investigator: Soheil Meshinchi, MD         
Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
Principal Investigator: Soheil Meshinchi, MD Children's Oncology Group
  More Information

No publications provided

Responsible Party: Children's Oncology Group Identifier: NCT01642069     History of Changes
Other Study ID Numbers: AAML12B9, NCI-2012-01984
Study First Received: July 15, 2012
Last Updated: May 5, 2015
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Leukemia, Megakaryoblastic, Acute
Leukemia, Myeloid
Leukemia, Myeloid, Acute
Neoplasms by Histologic Type processed this record on October 02, 2015