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| Status |
Public on Aug 23, 2024 |
| Title |
Molecular and pathological characterisation of diffuse large B-cell lymphomas in children with Nijmegen breakage syndrome |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Nijmegen-breakage syndrome (NBS, OMIM #251260) is an autosomal recessive chromosomal instability syndrome characterized by a very distinct phenotype (microcephaly, growth retardation, immunodeficiency) associated with increased predisposition to develop malignancies, particularly of lymphoid origin (by the age of 20 years, over 40% of NBS patients develop cancer). Immunological lineage of lymphomas in NBS significantly differs from Non-Hodgkin Lymphomas (NHL) entities observed in general pediatric population as well as in primary immunodeficiencies. There is a strong predominance of diffuse large B-cell lymphoma (DLBCL) and T cell lymphoblastic lymphoma (T-LBL/ALL), all showing clonal Ig/TCR rearrangements.
In the current study we aimed to examined gene expression signature of metabolic pathways in DLBCL cells.
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| Overall design |
Comparative gene expression profiling analysis of RNA-seq data for 41 human FFPE samples, of which 8 had confirmed Nijmegen breakage syndrome and 22 presented immunohistochemistry-confirmed Germinal center B-cell like sub-type of diffuse large B-cell lymphoma
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| Contributor(s) |
Pastorczak A, Braun M, Madzio J, Bartosz S, Wypyszczak K, Sztormwasser P, Wojtaszewska M, Chrzanowski J, Grajkowska W, Gregorek H, Wakulinska A, Kazanowska B, Krenova Z, Weijer D, Kuiper R, Mlynarski W |
| Citation missing |
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| Last update date |
Aug 23, 2024 |
| Contact name |
Jędrzej Chrzanowski |
| E-mail(s) |
jj.chrzanowski1@gmail.com, jedrzej.chrzanowski@umed.lodz.pl
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| Phone |
+48507715167
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| Organization name |
Medical University of Lodz
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| Department |
Department of Biostatistics and Translational Medicine
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| Street address |
Mazowiecka 15
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| City |
Łódź |
| State/province |
łódzkie |
| ZIP/Postal code |
92-701 |
| Country |
Poland |
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| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
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