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Studying Genes in Samples From Younger Patients With Acute Megakaryoblastic Leukemia

This study has been completed.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: July 15, 2012
Last updated: May 17, 2016
Last verified: May 2016
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 ]
  • 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 ]
  • Overall survival (pOS, defined as time between diagnosis and death) [ Time Frame: Up to 8 weeks ]

Enrollment: 100
Study Start Date: July 2012
Study Completion Date: May 2016
Primary Completion Date: May 2016 (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   (Child, Adult)
Sexes Eligible for Study:   All
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
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Please refer to this study by its identifier: NCT01642069

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

Responsible Party: Children's Oncology Group Identifier: NCT01642069     History of Changes
Other Study ID Numbers: AAML12B9
NCI-2012-01984 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
Study First Received: July 15, 2012
Last Updated: May 17, 2016

Additional relevant MeSH terms:
Leukemia, Myeloid, Acute
Leukemia, Myeloid
Leukemia, Megakaryoblastic, Acute
Neoplasms by Histologic Type
Neoplasms processed this record on May 22, 2017