Copy number signatures predict chromothripsis and clinical outcomes in newly diagnosed multiple myeloma

KH Maclachlan, EH Rustad, A Derkach… - Nature …, 2021 - nature.com
Abstract Chromothripsis is detectable in 20–30% of newly diagnosed multiple myeloma
(NDMM) patients and is emerging as a new independent adverse prognostic factor. In this …

Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients

F Magrangeas, H Avet-Loiseau… - Blood, The Journal …, 2011 - ashpublications.org
Multiple myeloma (MM) develops from a premalignant plasma cell proliferative disorder, and
with time can progress to a more aggressive disease in extramedullary locations. The …

Structural variants shape the genomic landscape and clinical outcome of multiple myeloma

C Ashby, EM Boyle, MA Bauer, A Mikulasova… - Blood Cancer …, 2022 - nature.com
Deciphering genomic architecture is key to identifying novel disease drivers and
understanding the mechanisms underlying myeloma initiation and progression. In this work …

Chromothripsis as a pathogenic driver of multiple myeloma

F Maura, EM Boyle, EH Rustad, C Ashby… - Seminars in cell & …, 2022 - Elsevier
Abstract Analysis of the genetic basis for multiple myeloma (MM) has informed many of our
current concepts of the biology that underlies disease initiation and progression. Studying …

A compendium of myeloma-associated chromosomal copy number abnormalities and their prognostic value

BA Walker, PE Leone, L Chiecchio… - Blood, The Journal …, 2010 - ashpublications.org
To obtain a comprehensive genomic profile of presenting multiple myeloma cases we
performed high-resolution single nucleotide polymorphism mapping array analysis in 114 …

Copy number evolution and its relationship with patient outcome—an analysis of 178 matched presentation-relapse tumor pairs from the Myeloma XI trial

J Croft, S Ellis, AL Sherborne, K Sharp, A Price… - Leukemia, 2021 - nature.com
Structural chromosomal changes including copy number aberrations (CNAs) are a major
feature of multiple myeloma (MM), however their evolution in context of modern biological …

[HTML][HTML] The combination of WGS and RNA-Seq is superior to conventional diagnostic tests in multiple myeloma: Ready for prime time?

A Höllein, SO Twardziok, W Walter, S Hutter, C Baer… - Cancer genetics, 2020 - Elsevier
The diagnosis and risk stratification of multiple myeloma (MM) is based on clinical and
cytogenetic tests. Magnetic CD138 enrichment followed by interphase FISH (fluorescence in …

Prognostic significance of copy-number alterations in multiple myeloma

H Avet-Loiseau, C Li, F Magrangeas… - Journal of Clinical …, 2009 - ascopubs.org
Purpose Chromosomal aberrations are a hallmark of multiple myeloma but their global
prognostic impact is largely unknown. Patients and Methods We performed a genome-wide …

Chromothripsis is a recurrent genomic abnormality in high-risk myelodysplastic syndromes

M Abaigar, C Robledo, R Benito, F Ramos… - PLoS …, 2016 - journals.plos.org
To explore novel genetic abnormalities occurring in myelodysplastic syndromes (MDS)
through an integrative study combining array-based comparative genomic hybridization …

Hyperhaploidy is a novel high-risk cytogenetic subgroup in multiple myeloma

JR Sawyer, E Tian, JD Shaughnessy Jr, J Epstein… - Leukemia, 2017 - nature.com
Abstract Hyperhaploid clones (24–34 chromosomes) were identified in 33 patients with
multiple myeloma (MM), demonstrating a novel numerical cytogenetic subgroup. Strikingly …