Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

48 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

ABSTRACT: Retrospective investigation of genetic background of rapid progression of multiple myeloma into extramedullary relapse. Array-CGH showed chromothripsis in chromosome 18, hyperdiploidy, structural copy-number alterations. Utilization of novel NGS leukemia-related gene custom panel revealed patholological mutation in NRAS (c.181C>A; p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1.

INSTRUMENT(S): Agilent DNA Microarray Scanner

ORGANISM(S): Homo sapiens

SUBMITTER: Jan Smetana

PROVIDER: E-MTAB-6033 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Project description:Retrospective investigation of genetic background of rapid progression of multiple myeloma into extramedullary relapse. Array-CGH showed chromothripsis in chromosome 18, hyperdiploidy, structural copy-number alterations. Utilization of novel NGS leukemia-related gene custom panel revealed patholological mutation in NRAS (c.181C>A; p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1.

2017-10-31 | E-MTAB-6036 | biostudies-arrayexpress

Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia – case report

2015-10-10 | E-MTAB-3577 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 3

Project description:This study includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in children with ID/DD, ASD and MCA. We identified a broad range of pathogenic/likely pathogenic CNVs as well as variants of unclear significance and likely benign variants. Our results confirm the benefit of array-CGH in the current clinical genetic diagnostics through the identification of genetic cause of ID/DD in the high proportion of affected children.

2019-04-30 | E-MTAB-6731 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 2

2019-04-30 | E-MTAB-6733 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 1

2019-04-30 | E-MTAB-6685 | biostudies-arrayexpress

Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia – case report

Project description:Extramedullary relapse (EM) of multiple myeloma (MM) is defined as infiltration of plasma cells (PC) outside of the bone marrow. EM is an aggressive form of the disease with a dismal outcome. We present cytogenetic findings of a 52-year-old female patient who was diagnosed with MM in 2008 and progression of MM to EM and plasmocellular leukemia retrospective analysis of TP53 mutation status showed presence of 2 known missense mutations in exon 6 (c.632C>T) and exon 7 (c.700T>C). EM relapse of this patient was connected to a change of the entire genome profile. We suppose that the extramedullary lesion originated by an expansion of one clone of tumor plasma cells from the bone marrow, which was confirmed by identical genomic profile of both tested samples. Thus, change of ploidy status should be considered as potential hallmark of adverse course of the disease.

2015-10-06 | E-MTAB-3600 | biostudies-arrayexpress

Array-CGH in a boy with an occurrence of neurodevelopmental disorders and epilepsy

Project description:This analysis includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in a boy with neurodevelopmental disorders and epilepsy.

2020-01-31 | E-MTAB-8147 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 5

2019-04-30 | E-MTAB-6734 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities

2019-08-31 | E-MTAB-7696 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 4

2019-04-30 | E-MTAB-6735 | biostudies-arrayexpress