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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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CGH analysis of an extramedullary muletiple myeloma PDX

ABSTRACT: A patient derived orthotopic xenograft (PDOX) was generated from a patient with an aggressive EMM to study in-depth genetic and epigenetic events and drug responses related to extramedullary disease. One of these studies was the evaluation of genetic imbalances by Affymetrix Cytoscan 750K array. The PDOX was derived from a fresh punch of an extramedullary cutaneous lesion that was orthotopically implanted in a NSG mouse. The PDOX mimicked histologic and phenotypic features of patient’s tumor. Cytogenetic studies revealed a hyperploid genome with multiple genetic poor-prognosis alterations. Copy number alterations were detected in all chromosomes.

ORGANISM(S): Homo sapiens

SUBMITTER: Lourdes Farre Vallve

PROVIDER: E-MTAB-10630 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Extramedullary multiple myeloma patient-derived orthotopic xenograft with a highly altered genome: combined molecular and therapeutic studies.

Farre Lourdes L Sanz Gabriela G Ruiz-Xivillé Neus N Castro de Moura Manuel M Martin-Tejera Juan Francisco JF Gonçalves-Ribeiro Samuel S Martinez-Iniesta Maria M Calaf Monica M Luis Mosquera Jose J Martín-Subero José Ignacio JI Granada Isabel I Esteller Manel M Domingo-Domenech Eva E Climent Fina F Villanueva Alberto A Sureda Anna A

Disease models & mechanisms 20210715 7

Extramedullary multiple myeloma (EMM) has an overall survival of 6 months and occurs in 20% of multiple myeloma (MM) patients. Genetic and epigenetic mechanisms involved in EMM and the therapeutic role of new agents for MM are not well established. Besides, well-characterized preclinical models for EMM are not available. Herein, a patient-derived orthotopic xenograft (PDOX) was generated from a patient with an aggressive EMM to study in-depth genetic and epigenetic events, and drug responses rel ...[more]

PMID: 33988237

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Whole DNA methylome of an extramedullary multiple myeloma patient derived orthotopic xenograft

Project description:A patient derived orthotopic xenograft (PDOX) was generated from a patient with an 53 aggressive extramedullary multiple myeloma (EMM) to study in-depth genetic and epigenetic events and drug responses related to extramedullary disease. Whole DNA methylome of the EMM PDOX was also evaluated and compared with a published dataset of 101 newly-diagnosed and chemotherapy-naïve MM patients and normal plasma cells (NPC) (Agirre et al., 2015) A rather balanced proportion of hyper/hypomethylated sites different to previously reported widespread hypomethylation in MM was observed.

2021-06-25 | E-MTAB-10654 | biostudies-arrayexpress

Expression data of newly diagnosed multiple myeloma and extramedullary myeloma

Project description:Despite the development of novel therapeutic agents, multiple myeloma (MM) remains incurable, owing mainly to inevitable relapse in almost all patients. Some relapses occur as extramedullary disease (EMD), which is rare but is the most aggressive event in MM patients. Extramedullary myeloma (EMM) has extraordinary heterogeneous biological and clinical features. Previous studies have shown that expression levels of LncRNAs and mRNAs in different stages of MM are different. This study analyzes the expression levels of LncRNAs and mRNAs in primary plasma cells (PCs) from MM and EMM patients.

2023-03-01 | GSE147841 | GEO

Intratumor Heterogeneity of MIF Expression Correlates with Extramedullary Involvement of Multiple Myeloma

Project description:Macrophage migration inhibitory factor (MIF) has been shown to promote disease progression in many malignancies, including multiple myeloma (MM). We previously reported that MIF regulates MM bone marrow homing and knockdown of MIF favors the extramedullary myeloma formation in mice. Here, based on MIF immunostaining of myeloma cells in paired intramedullary and extramedullary biopsies from 17 patients, we found lower MIF intensity in extramedullary MM (EMM) versus intramedullary MM (IMM). Flow cytometry and histology analysis in ARD cell line-derived xenograft models showed a portion of inoculated human MM cells lost their MIF expression (MIFLow) in vivo. Of note, IMM had dominantly MIFHigh cells, while EMM showed a significantly increased ratio of MIFLow cells. We harvested the extramedullary human MM cells from a mouse and generated single-cell transcriptomic data. The developmental trajectories of MM cells from the MIFHigh to MIFLow state were indicated. The MIFHigh cells featured higher proliferation. The MIFLow ones were more quiescent and harbored abundant ribosomal protein genes. Our findings identified in vivo differential regulation of MIF expression in MM and suggested a potential pathogenic role of MIF in the extramedullary spread of disease.

2021-07-20 | GSE175660 | GEO

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-6033 | biostudies-arrayexpress

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

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

Single cell RNA sequencing revealed a chemokine self-feeding of myeloma cells for extramedullary metastasis

Project description:To determine the mechanisms of the initial extramedullary translocation of myeloma cells from bone marrow into peripheral blood. We found that the clonal cPCs were more frequently detected by flowcytometry in extramedullary plasmacytoma patients and worsened their prognosis. It is technically much easier to collect single cPCs using FACS than it is to perform EMP biopsy. Combining imaging extramedullary plasmacytoma diagnosis and cPCs detection may be a promising strategy for prognostic stratification. Using single-cell transcriptome analysis, we found that CXCL12, a key molecule for the CXCR4-dependent cell retention mechanism in bone marrow, was abnormally up-regulated in cPCs and might initially enable cPCs evasion and translocation into blood.

2019-09-18 | GSE137545 | GEO

Small RNA sequencing of plasma cells of multiple myeloma patients with extramedullary disease

Project description:Background: Extramedullary disease (EM) in multiple myeloma (MM) is defined by escape of malignant plasma cells out of the bone marrow. The mechanisms of extramedullary spread are not well understood. MicroRNAs (miRNA) were proven to be involved in the pathogenesis of MM; nevertheless, there is a lack of knowledge about their role in EM. Methods: Using NGS analysis, we identified ten differentially expressed miRNA in plasma cells of MM versus EM patients. We performed qPCR in validation phase, using TaqMan Advanced MiRNA Assays. Results: In this study, we identified 10 miRNAs differentially expressed between MM and EM patiens.

2022-12-14 | GSE129918 | GEO

Extramedullary multiple myeloma PDX

Project description:Extramedullary multiple myeloma patient-derived orthotopic xenograft with a highly disturbed genome: combined exhaustive molecular and therapeutic studies

| PRJEB45604 | ENA

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

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

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

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