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Series GSE205265 Query DataSets for GSE205265
Status Public on Aug 17, 2022
Title Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults [gene expression]
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Chromothripsis is a mitotic catastrophe that arises from multiple double strand breaks and incorrect re-joining of one or a few chromosomes. We report on incidence, distribution, and features of chromothriptic events in T-cell acute lymphoblastic leukemias (T-ALL). SNP array was performed in 103 T-ALL (39 ETP/near ETP, 59 non-ETP, and 5 with unknown stage of differentiation), including 38 children and 65 adults. Chromothripsis was detected in 11.6% of all T-ALL and occurred only in adult cases with an immature phenotype (12/39 cases; 30%). It affected 1 to 4 chromosomes, and recurrently involved chromosomes 1, 6, 7, and 17. Abnormalities of genes typically associated with T-ALL were found at breakpoints of chromothripsis. In addition, it gave rise to new/rare alterations, such as, the SFPQ::ZFP36L2 fusion, reported in pediatric T-ALL, deletions of putative suppressors, such as IKZF2 and CSMD1, and amplification of the BCL2 gene. Compared to negative cases, chromothripsis positive T-ALL had a significantly higher level of MYCN expression, and a significant downregulation of RGCC, which is typically induced by TP53 in response to DNA damage. Furthermore we identified mutations and/or deletions of DNA repair/genome stability genes in all cases, and an association with NUP214 rearrangements in 33% of cases.
Overall design Gene expresion analysis was carried out on 68 T-ALL cases (cth+=11; cht-=57)
Contributor(s) Mecucci C, La Starza R
Citation(s) 35974102
Submission date Jun 01, 2022
Last update date Nov 02, 2022
Contact name Cristina Mecucci
Phone +39 075 5783808
Organization name University of Perugia
Department Department of Medicine, Hematology and Bone Marrow Transplantation Unit
Lab Laboratory of Cytogenetics and Molecular Genetics
Street address Piazzale Menghini n.9
City Perugia
ZIP/Postal code 06132
Country Italy
Platforms (1)
GPL23159 [Clariom_S_Human] Affymetrix Clariom S Assay, Human (Includes Pico Assay)
Samples (68)
GSM6209471 CTH+1
GSM6209472 CTH+2
GSM6209473 CTH+3
This SubSeries is part of SuperSeries:
GSE205270 Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults
BioProject PRJNA844310

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE205265_RAW.tar 93.5 Mb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table

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