Much effort has been made to stratify multiple myeloma patients for targeted therapy. However, responses have been varied and improved patient stratifications are needed. Forty-five diagnostic samples from multiple myeloma patients (median age 65 years) were stratified cytogenetically as 15 having non-hyperdiploidy, 20 having hyperdiploidy and 10 having a normal karyotype. Fluorescence in situ hybridization (FISH) assays with FGFR3/IGH, CCND1/IGH, IGH/MAF, RB1 and TP53 probes on bone marrow samples showed that IGH rearrangements were the most common abnormality in the non-hyperdiploid group but these were also found among hyperdiploid patients and patients with normal cytogenetics. Of these, FGFR3/IGH rearrangements were most frequent. Deletion of RB1/monosomy 13 was the most common genetic abnormality across the three groups and was significantly higher among non-hyperdiploid compared to hyperdiploid patients. On the other hand, the study recorded a low incidence of TP53 deletion/monosomy 17. The FGFR3/IGH fusion was frequently seen with RB1 deletion/monosomy 13. FISH with 1p36/1q21 and 6q21/15q22 probes showed that amplification of 15q22 was seen in all of the hyperdiploid patients while amplification of 1q21, Amp(1q21), characterized non-hyperdiploid patients. In contrast, deletions of 1p36 and 6q21 were very rare events. Amp(1q21), FGFR3/IGH fusion, RB1 deletion/monosomy 13, and even TP53 deletion/monosomy 17 were seen in some hyperdiploid patients, suggesting that they have a less than favorable prognosis and require closer monitoring.
Multiple myeloma (MM) is a type of cancer that starts in plasma cells and is divided into two main genetic subtypes: hyperdiploid and non-hyperdiploid.
This study used human myeloma cell lines (HMCLs) to investigate protein expression of cell surface markers relevant to MM treatment, finding that some markers were consistently expressed while others showed variation.
Analysis revealed that some HMCLs closely matched the characteristics of patient-derived samples, highlighting the need for careful selection of cell lines to best model MM for research and therapeutic purposes.
Children with ETV6::RUNX1 or high-hyperdiploid B-acute lymphoblastic leukemia (B-ALL) have favorable outcomes. The St. Jude (SJ) classification considers these patients low-risk, regardless of their National Cancer Institute (NCI) risk, except when there is slow minimal residual disease (MRD) response or central nervous system/testicular involvement.
Despite high cure rates for childhood acute lymphoblastic leukemia (ALL), it remains a major cause of cancer-related deaths in children, especially among those initially classified as standard-risk (SR).
Researchers analyzed genomic data from over 1,300 children with ALL to identify factors influencing relapse, focusing on comparing patients who relapsed against those who stayed in remission for five years.
Findings indicated that specific genomic subtypes and chromosomal alterations significantly affect relapse risk, highlighting the need for detailed genetic analysis to improve risk assessment and treatment strategies in childhood ALL.
Background: Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Immunophenotype (IPT) and cytogenetics are essential for diagnosis, risk stratification, and management for ALL.
Objectives: Evaluating the burden of immunophenotypic and cytogenetic profile of pediatric ALL patients.
Acquisition of a hyperdiploid (HY) karyotype or immunoglobulin heavy chain (IgH) translocations are considered key initiating events in multiple myeloma (MM). To explore if other genomic events can precede these events, we analyzed whole-genome sequencing data from 1173 MM samples. By integrating molecular time and structural variants within early chromosomal duplications, we indeed identified pregain deletions in 9.
