ID
45178
Description
Principal Investigator: Charles Mullighan, MBBS(Hons), MSc, MD, Dept. of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA MeSH: Precursor Cell Lymphoblastic Leukemia-Lymphoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000341 The genetic basis of hypodiploid acute lymphoblastic leukemia (ALL), a subtype of ALL characterized by aneuploidy and poor outcome, is unknown. Genomic profiling of 124 hypodiploid ALL cases, including whole-genome and exome sequencing of 40 cases, identified two subtypes that differ in the severity of aneuploidy, transcriptional profiles and submicroscopic genetic alterations. Near-haploid ALL with 24-31 chromosomes harbor alterations targeting receptor tyrosine kinase signaling and Ras signaling (71%) and the lymphoid transcription factor gene IKZF3 (encoding AIOLOS; 13%). In contrast, low-hypodiploid ALL with 32-39 chromosomes are characterized by alterations in TP53 (91.2%) that are commonly present in nontumor cells, IKZF2 (encoding HELIOS; 53%) and RB1 (41%). Both near-haploid and low-hypodiploid leukemic cells show activation of Ras-signaling and phosphoinositide 3-kinase (PI3K)-signaling pathways and are sensitive to PI3K inhibitors, indicating that these drugs should be explored as a new therapeutic strategy for this aggressive form of leukemia.
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Keywords
Versions (2)
- 22/08/2022 22/08/2022 - Simon Heim
- 12/10/2022 12/10/2022 - Adrian Schulz
Copyright Holder
Charles Mullighan, MBBS(Hons), MSc, MD, Dept. of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA
Uploaded on
12 octobre 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000341 The Genetic Basis of Hypodiploid ALL
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Subject ID, sample ID, sample source, sample source ID and sample use of subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Sample ID, tumor status, body site where sample was collected, analyte type, tissue type of samples, location of primary tumors obtained from subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Subject ID, age at diagnosis, information about molecular testing, primary protocol, patient relapse, if patients received bone marrow transplant, genetic lesion, gender, ethnicity, vital status, tumor purity, type of specimen [DNA], tissue site [bone marrow, peripheral blood, cell line] where samples were obtained from subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Sample ID and GEO accession ID of subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Subject ID, sample ID, sample source, sample source ID and sample use of subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Sample ID, tumor status, body site where sample was collected, analyte type, tissue type of samples, location of primary tumors obtained from subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Subject ID, age at diagnosis, information about molecular testing, primary protocol, patient relapse, if patients received bone marrow transplant, genetic lesion, gender, ethnicity, vital status, tumor purity, type of specimen [DNA], tissue site [bone marrow, peripheral blood, cell line] where samples were obtained from subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
- Sample ID and GEO accession ID of subjects with acute lymphoblastic leukemia and involved in the "The Genetic Basis of Hypodiploid ALL" study project.
C0470187 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])