Exonic variants in multiple myeloma patients associated with relapsed/ refractory and response to bortezomib regimens

Kakoo, Ashraf; Al-Attar, Mustafa S.; Rasheed, Taban

doi:10.1016/j.sjbs.2021.09.017

Cited by 5 publications

(3 citation statements)

References 55 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The authors also found that the mutational landscape of MM patients in the Iranian population was distinct from other populations, with some specific mutations being more prevalent in Iranian MM patients [58]. The study conducted by Munshi et al identified recurrent mutations commonly seen in multiple myeloma cells.…”

Section: Type Of Samplesmentioning

confidence: 97%

Next Generation Sequencing in Diagnosis of Multiple Myeloma

El Fazazi,

Ihlal,

Abbassi

et al. 2023

Preprint

View full text Add to dashboard Cite

Multiple myeloma (MM) is an incurable, diverse cancer in which abnormal plasma cells produce and release monoclonal immunoglobulin (Ig), also known as monoclonal protein or M protein. MM is always preceded by monoclonal gammaglobulinemia of unknown significance (MGUS) and smoldering multiple myeloma (SMM). Diagnosis of MM is made from a bone marrow sample, which involves analysis of the appearance of plasma cells. Quantification of CD138+ plasma cells in core biopsies is performed using techniques such as immunohistochemistry, flow cytometry, fluorescence in situ hybridization (FISH) and conventional cytogenetics. Urinalysis includes total protein by immunofixation and 24-hour urine by serum protein electrophoresis. FISH probes should detect the presence of at least del 13, del 17p, t(4;14), t(11;14), t(14;16), and 1q21 amplifications. Indeed, next-generation sequencing (NGS) has become an increasingly important tool in the diagnosis and treatment of MM. It can be used to identify genetic mutations, copy number changes, and clonal structures to help determine disease prognosis and treatment strategies. NGS can identify subclonal populations of cancer cells that are resistant to therapy and may lead to disease relapse, and can be used to identify potential targets for personalized therapy. For example, NGS can identify mutations in genes involved in drug resistance, enabling the selection of drugs that may be more effective in treating a patient's cancer. This systematic review analyzes 182 papers to determine the position and role of NGS in the diagnosis of MM. We first analyze the platforms and sample types used in the selected studies, and then start discussing the results.

show abstract

Section: Type Of Samplesmentioning

confidence: 97%

Next Generation Sequencing in Diagnosis of Multiple Myeloma

El Fazazi,

Ihlal,

Abbassi

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…Despite prolonging survival times of MM patients, both bortezomib and DARA caused an enhancement in infectious complications thus becoming a life-threatening issue in these patients. The main cause of infection is due to the change in lymphocyte count as well as due to the immunosuppressive effect of the disease [33].…”

Section: Infectious Complicationsmentioning

confidence: 99%

Treatment and Disease-related Complications in Multiple Myeloma

Kayyali¹,

Diak²,

Diak³

et al. 2023

Recent Updates on Multiple Myeloma

View full text Add to dashboard Cite

Multiple myeloma is a clonal plasma cell neoplasm that is mainly characterized by anemia, renal insufficiency, hypercalcemia, and bone destruction. Since 1990, there is an increase in the incidence of myeloma globally by 126%. However, due to the presence of the new therapeutic agents such as proteasome inhibitors, immunomodulatory drugs, Chimeric antigen receptor T-cell therapy, bispecific antibodies, bisphosphonates, corticosteroids, melfulfen, iberdomide, cyclophosphamide, plerixafor, melphalan chemotherapy, nuclear transport inhibitor, and monoclonal antibodies, as well as upfront autologous and allogeneic hematopoietic cell transplantation in eligible patients, a decline in the age-standardized mortality rate has been seen. This leads to higher survival rates of patients with multiple myeloma in the last 15 years, and hence, patients with multiple myeloma for 10–15 years are no longer rare. However, it has been observed that even though the treatment goal was to prevent end-organ damage, improve or maintain quality of life (QoL), and achieve long-term disease-free survival; thus, new treatments have converted myeloma into a chronic disease, such as peripheral neuropathy (PN), venous thromboembolism, and cardiac toxicity. Notably, most patients remain on continuous treatment for extended time periods, which leads to various complications. Hence, management of immediate and late complications from disease and treatment is a critical component of survivorship care in myeloma.

show abstract

“…Whole exome sequencing on blood samples comparing patients resistant or refractory to both bortezomib and daratumumab were compared with those of patients responding to bortezomib treatment. Numerous significant variants were identified, including in the PIK3CG gene, which has metabolic cellular functions, including as a lipid kinase with altered effects influencing proliferation, angiogenesis, and drug resistance [ 59 ].…”

Section: Gene Expression Signaturesmentioning

confidence: 99%

Metabolic Alterations in Multiple Myeloma: From Oncogenesis to Proteasome Inhibitor Resistance

Weir

Donaldson

McMullin

et al. 2023

Cancers

View full text Add to dashboard Cite

Despite significant improvements in treatment strategies over the past couple of decades, multiple myeloma (MM) remains an incurable disease due to the development of drug resistance. Metabolic reprogramming is a key feature of cancer cells, including MM, and acts to fuel increased proliferation, create a permissive tumour microenvironment, and promote drug resistance. This review presents an overview of the key metabolic adaptations that occur in MM pathogenesis and in the development of resistance to proteasome inhibitors, the backbone of current MM therapy, and considers the potential for therapeutic targeting of key metabolic pathways to improve outcomes.

show abstract

Exonic variants in multiple myeloma patients associated with relapsed/ refractory and response to bortezomib regimens

Cited by 5 publications

References 55 publications

Next Generation Sequencing in Diagnosis of Multiple Myeloma

Next Generation Sequencing in Diagnosis of Multiple Myeloma

Treatment and Disease-related Complications in Multiple Myeloma

Metabolic Alterations in Multiple Myeloma: From Oncogenesis to Proteasome Inhibitor Resistance

Contact Info

Product

Resources

About