Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01146210
Recruitment Status : Completed
First Posted : June 17, 2010
Last Update Posted : May 17, 2016
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group

Brief Summary:
This research study is studying identification of de novo Fanconi anemia in younger patients with newly diagnosed acute myeloid leukemia. Studying samples of tissue from patients with cancer in the laboratory may help doctors identify and learn more about biomarkers related to Fanconi anemia in patients with acute myeloid leukemia.

Condition or disease Intervention/treatment
Childhood Acute Erythroleukemia (M6) Childhood Acute Megakaryocytic Leukemia (M7) Childhood Acute Minimally Differentiated Myeloid Leukemia (M0) Childhood Acute Monoblastic Leukemia (M5a) Childhood Acute Monocytic Leukemia (M5b) Childhood Acute Myeloblastic Leukemia With Maturation (M2) Childhood Acute Myeloblastic Leukemia Without Maturation (M1) Childhood Acute Myelomonocytic Leukemia (M4) Childhood Myelodysplastic Syndromes Chronic Myelomonocytic Leukemia de Novo Myelodysplastic Syndromes Fanconi Anemia Refractory Anemia Refractory Anemia With Excess Blasts Refractory Anemia With Excess Blasts in Transformation Refractory Anemia With Ringed Sideroblasts Secondary Myelodysplastic Syndromes Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies Other: laboratory biomarker analysis

Detailed Description:


I. Identify children with newly diagnosed acute myeloid leukemia (AML) treated on COG-2961 and COG-AAML03P1 who are at high risk of having de novo Fanconi anemia.

II. Procure diagnostic samples from the COG AML Biology Repository and identify Fanconi anemia patients using western blot techniques.


Previously collected cryopreserved cells are analyzed via western blot to identify patients with Fanconi anemia.

Study Type : Observational
Actual Enrollment : 20 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Identification of de Novo Fanconi Anemia Patients Using FANCD2 Western Blots
Study Start Date : May 2009
Actual Primary Completion Date : May 2016
Actual Study Completion Date : May 2016

Group/Cohort Intervention/treatment
Previously collected cryopreserved cells are analyzed via western blot to identify patients with Fanconi anemia.
Other: laboratory biomarker analysis
Correlative studies

Primary Outcome Measures :
  1. Identification of children at high risk of having Fanconi anemia [ Time Frame: Up to 5 months ]
  2. Identification of Fanconi anemia patients [ Time Frame: Up to 5 months ]

Biospecimen Retention:   Samples With DNA
tumor tissue

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients treated on trials COG-2961 or COG-AAML03P1. Also patients at high risk of having Fanconi anemia meeting other criteria.

Inclusion Criteria:

  • Treated on COG-2961 or COG-AAML03P1
  • At high risk of having Fanconi anemia, defined as meeting one the following groups of clinical criteria:

    • Group 1: Prolonged neutropenia after induction, severe regimen-related toxicity (mucositis, veno-occlusive disease, end-organ damage)
    • Group 2: Early non-relapse death (induction, consolidation)
    • Group 3: Small-for-weight, secondary malignancies

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01146210

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: Monica Thakar, MD Children's Oncology Group

Responsible Party: Children's Oncology Group Identifier: NCT01146210     History of Changes
Other Study ID Numbers: AAML10B2
NCI-2011-02219 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
COG-AAML10B2 ( Other Identifier: Childrens Oncology Group )
CDR0000671437 ( Other Identifier: Clinical )
AAML10B2 ( Other Identifier: Children's Oncology Group )
AAML10B2 ( Other Identifier: CTEP )
First Posted: June 17, 2010    Key Record Dates
Last Update Posted: May 17, 2016
Last Verified: May 2016

Additional relevant MeSH terms:
Anemia, Refractory
Anemia, Refractory, with Excess of Blasts
Fanconi Anemia
Anemia, Aplastic
Anemia, Hypoplastic, Congenital
Leukemia, Myeloid
Leukemia, Myeloid, Acute
Myelodysplastic Syndromes
Leukemia, Myelomonocytic, Acute
Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Juvenile
Leukemia, Monocytic, Acute
Fanconi Syndrome
Leukemia, Erythroblastic, Acute
Leukemia, Megakaryoblastic, Acute
Pathologic Processes
Neoplasms by Histologic Type
Hematologic Diseases
Bone Marrow Diseases
Precancerous Conditions
Myelodysplastic-Myeloproliferative Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases