Complex Chromosomal Rearrangements (CCRs) are increasingly being reported as genetic risk factors of clinical significance in cancer owing to their identification using high resolution whole genome profiling technologies. This study employed high resolution CGH + SNP microarrays for whole genome copy number variations (CNV) profiling and identified CCRs in 11/107(10%) newly diagnosed Multiple Myeloma (MM) patients. Six patients exhibited Chromothripsis (CTH) among seven chromosomes that were confirmed with automated CTLPscanner web tool and; five cases displayed chromoplexy (CPL) which involved multiple chromosomes. Presence of chromothripsis in chromosome 17 in three out of six patients indicate a link between TP53 aberrations and incidence of CTH. Multivariable Cox regression model demonstrated a significant association of CTH with poor PFS (HR = 3.09, p = 0.010) and OS (HR = 3.31, p = 0.024) which suggests that CTH is an additional independent prognostic marker in multiple myeloma. Addition of CTH in risk stratification models in clinical setting in multiple myeloma may help in upfront identification of high risk patients for suitable customized therapy.
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http://dx.doi.org/10.1016/j.leukres.2018.12.005 | DOI Listing |
Malays J Pathol
December 2024
Universiti Sains Malaysia, School of Medical Sciences, Human Genome Centre, Health Campus, Kelantan, Malaysia.
Multiple myeloma (MM), a clonal B-cell neoplasia, is an incurable and heterogeneous disease where survival ranges from a few months to more than 10 years. The clinical heterogeneity of MM arises from multiple genomic events that result in tumour development and progression. Recurring genomic abnormalities including cytogenetic abnormalities, gene mutations and abnormal gene expression profiles in myeloma cells have a strong prognostic power.
View Article and Find Full Text PDFIran Biomed J
December 2024
Department of Hematology and Blood Transfusion Sciences, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran.
Sci Rep
December 2024
Faculty of Medicine, University of Social Sciences in Łódź, 90-113, Łódź, Poland.
Due to its course, multiple myeloma may negatively affect the functioning of patients. Different treatment methods are also associated with patients' varying perception of their health condition. The purpose of this study is to determine the disease-specific complaints among multiple myeloma patients during selected treatment methods-chemotherapy, autologous hematopoietic stem cell transplantation, and supportive therapy.
View Article and Find Full Text PDFClin Lymphoma Myeloma Leuk
December 2024
Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT; Cancer Outcomes, Public Policy, and Effectiveness Research (COPPER) Center, Yale University, New Haven, CT. Electronic address:
Monoclonal gammopathy of undetermined significance (MGUS) is a pre-malignant condition of multiple myeloma (MM). Evidence suggested old age, black race, male gender, and obesity as risk factors for MGUS development; however, whether they are associated with an increased risk of progression to MM among patients with MGUS is unclear. A systematic search of PUBMED and EMBASE for cohort studies investigating the association between age/race/gender/obesity and progression to MM.
View Article and Find Full Text PDFClin Biochem
December 2024
Department of Pathology and Laboratory Medicine, London Health Sciences Centre and St. Joseph's Health Care London, London, ON, Canada; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Background: Mass spectrometry methods are emerging as tools to detect M-proteins in the serum of multiple myeloma patients with increased sensitivity and specificity compared to traditional electrophoretic methods.
Methods: A liquid handling system, the Agilent AssayMAP Bravo, with liquid chromatography high-resolution quadrupole-time-of-flight (LC-QTOF) mass spectrometry to analyze intact light chains was compared to immunofixation electrophoresis (IFE) for M-protein analysis. 210 patient serum samples were analyzed in a split sample comparison (LC-QTOF vs.
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