Mutations that Distinguish Benign from Malignant Plasma Cell Neoplasams

区分良性和恶性浆细胞肿瘤的突变

• 批准号: 9194396
• 负责人: Peter Leif Bergsagel
• 金额: $ 37.97万
• 依托单位: MAYO CLINIC ARIZONA
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-12-11 至 2020-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9194396
• 关键词: Adult; Affect; Anemia; Benign; Biological Markers; Bone Marrow; Cells; Cessation of life; Clinic; Clone Cells; DNA; DNA Sequence Alteration; Diagnostic; Disease; Environment; Event; Frequencies; Gene Expression Profiling; Gene Targeting; Genetic; Genetic Markers; Genomic approach; Goals; IGH@ gene cluster; IGL@ gene cluster; Immune; KRAS2 gene; Kidney; Kidney Failure; Lead; Malignant - descriptor; Malignant Bone Neoplasm; Malignant Neoplasms; Maps; Monoclonal gammopathy of uncertain significance; Mouse Strains; Multiple Myeloma; Mus; Mutation; Nucleotides; Patients; Phase; Phenotype; Plasma Cell Neoplasm; Plasma Cells; Population; Premalignant; Recurrence; Relapse; Reporting; Risk; Sampling; Testing; Time; Transgenes; Tumor Burden; Variant; Visit; biobank; bone; cohort; density; improved; permissiveness; predictive modeling; prevent; prognostic; public health relevance; specific biomarkers

 DESCRIPTION (provided by applicant) Multiple myeloma (MM) is a cancer of bone marrow plasma cells that results in over ten thousand deaths a year in the USA.It is always preceded by a pre-malignant phase called monoclonal gammopathy of undetermined significance (MGUS). MGUS is very common (4% of adults), and overall has a low risk (~1-2%) each year of progressing to MM. We are unable to prevent the progression to MM, and currently recommend that patients with MGUS be followed annually. Unfortunately most patients progress to MM between the annual visits, sufferring from the complications of MM that include bony disease, anemia, and renal insufficiency. Most of the genetic changes identified in MM are also present in MGUS, however recently we have identified candidate genetic mutations that may drive the progression of MGUS to MM, potentially providing a useful genetic biomarker. This project will explore the genetic differences between patients with MGUS and MM with the goal of understanding the genetic mechanisms of progression and improving our risk prediction models, and preventing MGUS patients from suffering the complications of MM.