The biomarkers included genetic abnormalities, gene expression, microRNAs, markers of B cells/FL tumor cells, markers of the tumor microenvironment, and soluble biomarkers. This comprehensive review provides an overview of the research conducted in the past four decades, underscoring the persistent challenge in risk anticipation of FL patients.

1 year ago

Review • Journal • IO biomarker

BCL2 (B-cell CLL/lymphoma 2)

IGH translocation • BCL2 translocation

1year

Study of Carfilzomib, Lenalidomide, Dexamethasone and Belantamab Mafodotin in Multiple Myeloma (clinicaltrials.gov)

P1/2, N=70, Active, not recruiting, Wake Forest University Health Sciences | Trial completion date: Oct 2024 --> Nov 2032 | Trial primary completion date: Oct 2024 --> Apr 2029

1 year ago

Trial completion date • Trial primary completion date • IO biomarker

Chr t(4;14) • Chr t(14;16) • IGH translocation

lenalidomide • carfilzomib • Blenrep (belantamab mafodotin-blmf)

1year

Current state of genetic analysis in multiple myeloma and future perspectives (PubMed, Rinsho Ketsueki)

In addition, the number of ctDNA mutations was identified as a prognostic factor independent of IGH translocations and clinical factors. Here we summarize recent progress in genetic analysis of MM, focusing on clinical relevance.

1 year ago

Review • Journal

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CRBN (Cereblon)

TP53 mutation • KRAS mutation • IGH translocation • CRBN mutation

over1year

The biological and clinical impact of deletions before and after large chromosomal gains in multiple myeloma. (PubMed, Blood)

Using multi-omics approaches to investigate their biological impact, we found associations with poor clinical outcome in newly diagnosed patients and profound effects on both oncogene and TSG activity, despite the diploid gene status. Overall, this study provides novel insights into the temporal dynamics of genomic alterations in MM.

over 1 year ago

Journal

IGH (Immunoglobulin Heavy Locus)

IGH translocation

over1year

Case report: Mutation evolution in a patient with TdT positive high grade B cell lymphoma with MYC and BCL2 rearrangements following the treatment of concurrent follicular lymphoma and diffuse large B-cell lymphoma. (PubMed, Discov Oncol)

This study reports a rare case of TdT positive "double hit" HGBL following the treatment of concurrent FL/DLBCL and highlights the mutation characteristics. Collectively, this study will help enrich the knowledge of TdT positive "double hit" HGBL transformed from FL/DLBCL.

over 1 year ago

Journal • IO biomarker

BCL2 (B-cell CLL/lymphoma 2) • FGFR3 (Fibroblast growth factor receptor 3) • CD20 (Membrane Spanning 4-Domains A1) • KMT2D (Lysine Methyltransferase 2D) • CHEK2 (Checkpoint kinase 2) • CREBBP (CREB binding protein) • BCL7A (BAF Chromatin Remodeling Complex Subunit BCL7A) • CCND3 (Cyclin D3) • MME (Membrane Metalloendopeptidase) • MUC4 (Mucin 4, Cell Surface Associated) • STAT6 (Signal transducer and activator of transcription 6) • ARID5B (AT-Rich Interaction Domain 5B) • DDX3X (DEAD-Box Helicase 3 X-Linked)

ATM mutation • MYC rearrangement + BCL2 rearrangement • KMT2D mutation • CHEK2 mutation • BCL2 expression • CD20 expression • MYC rearrangement • CD19 expression • BCL2 rearrangement • IGH translocation • BCL2 translocation

almost2years

Chromosomal defects in multiple myeloma. (PubMed, Blood Rev)

Next-generation sequencing is increasingly being used to detect mutations and new FISH techniques such as by flow cytometry are in development and may address some of the current test limitations. Here we review the primary and secondary cytogenetic aberrations in myeloma and discuss the range of techniques available for their assessment.

almost 2 years ago

Review • Journal

MYC (V-myc avian myelocytomatosis viral oncogene homolog)

MYC translocation • IGH translocation

almost2years

Primary central nervous system marginal zone lymphoma. (PubMed, Br J Haematol)

Short follow-up is a major limitation in reported PCNSMZL cases, which restrains our knowledge on long-term results and iatrogenic sequels. This review was focussed on presentation, differential diagnoses, pathological findings, treatment options and clinical outcomes of PCNSMZL; recommendations for best clinical practice are provided.

almost 2 years ago

Review • Journal

CD20 (Membrane Spanning 4-Domains A1) • NOTCH2 (Notch 2) • TNFAIP3 (TNF Alpha Induced Protein 3) • MALT1 (MALT1 Paracaspase)

IGH translocation

2years

Novel identification of t(14;18)(q32;q21)/IGH::MALT1 in chronic lymphocytic leukaemia. (PubMed, Br J Haematol)

Both cases in this report were associated with lower-risk biological parameters. Thus, FISH testing for MALT1 in cases with unknown IGH translocation partners in the setting of CLL should be implemented in clinical practice to better define such cases.

2 years ago

Journal

BCL2 (B-cell CLL/lymphoma 2) • IGH (Immunoglobulin Heavy Locus) • MALT1 (MALT1 Paracaspase) • BCL3 (BCL3 Transcription Coactivator)

IGH translocation

2years

MM-UMA PANEL, AN NGS APPROACH TO DEFINE THE MOLECULAR PROFILE OF MM PATIENTS: INTRA AND INTER LABORATORY VALIDATIONS’ RESULTS (SIE 2023)

A novel NGS targeted panel was designed and successfully validated, whose main novelty resides in the possibility to call CNAs from off-target reads, that can be used to define MM pts’ genomic risk factors, possibly required in the daily clinical practice. Thanks to AIRC IG2018-22059, AILBolognaODV.

2 years ago

Clinical • Next-generation sequencing

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog)

TP53 mutation • KRAS mutation • BRAF mutation • NRAS mutation • ATM mutation • Chr t(11;14) • Chr t(4;14) • Chr t(14;16) • IGH translocation

2years

Single Cell Whole Genome Measurement of Genomic Heterogeneity and Clonal Evolution in Multiple Myeloma (ASH 2023)

We applied DLP to 7 MM patients obtaining 800-1600 single cell whole genomes per patient. All canonical IgH translocations identified by FISH were recovered in the scWGS data. Single cell copy number heterogeneity was observed in all but 1 patient, including heterogeneity affecting known drivers.

2 years ago

IO biomarker

TNFRSF17 (TNF Receptor Superfamily Member 17) • SDC1 (Syndecan 1)

APOBEC mutagenesis • IGH translocation