ID
45223
Description
Principal Investigator: James R. Downing, MD, Dept. of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA MeSH: Acute Myeloid Leukemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000414 Pediatric *de novo* acute myeloid leukemia (AML) is a heterogeneous disease that can be divided into clinically distinct subtypes based on the presence of specific chromosomal abnormalities or gene alterations. One of the best characterized subtypes of AML involves leukemias with alterations of the core-binding factor (CBF)-complex, which comprises the FAB subtypes M2 and M4Eo and associates with a favorable outcome. Patients with the AML M2 subtype harbor a translocation between chromosomes 8 and 21 [t(8;21)] that yields the chimeric fusion gene *RUNX1(AML1)-RUNX1T1(ETO)*, while patients with AML M4Eo express the chimeric fusion gene *CBFβ-SMMHC(MYH11)* as a result of an inversion/translocation event of chromosome 16 [inv(16)/t(16;16)]. In an effort to define the total complement of genetic changes in CBF-leukemia, we performed paired-end whole genome sequencing (WGS) on diagnostic leukemia blasts and matched germ line samples from 17 pediatric CBF-leukemia patients using the Illumina platform. Somatic alterations, including single nucleotide variations (SNVs) and structural variations (SVs), including insertions, deletions, inversions, and inter- and intra-chromosomal rearrangements, were detected using complementary analysis pipelines (Bambino, CREST and CONSERTING). Recurrent screening of identified mutations will be performed in a cohort of approximately 94 cases of CBF-leukemias.
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Versions (2)
- 7/29/22 7/29/22 - Simon Heim
- 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder
James R. Downing, MD, Dept. of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA
Uploaded on
October 12, 2022
DOI
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Creative Commons BY 4.0
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dbGaP phs000414 Whole Genome Sequencing of CBF-Leukemia
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, subject source ID, consent groups, and affection status of participants with leukemia and involved in the "Whole genome sequencing of core-binding factor leukemia" project.
- Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with leukemia and involved in the "Whole genome sequencing of core-binding factor leukemia" project.
- Sample ID, tumor status, body site where sample was collected, analyte type, histological type of samples, and primary tumor location obtained from participants with leukemia and involved in the "Whole genome sequencing of core-binding factor leukemia" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, subject source ID, consent groups, and affection status of participants with leukemia and involved in the "Whole genome sequencing of core-binding factor leukemia" project.
- Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with leukemia and involved in the "Whole genome sequencing of core-binding factor leukemia" project.
- Sample ID, tumor status, body site where sample was collected, analyte type, histological type of samples, and primary tumor location obtained from participants with leukemia and involved in the "Whole genome sequencing of core-binding factor leukemia" project.
C0021430 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])
C1328887 (UMLS CUI [1,4])
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