Publications by authors named "C Boehner"
Unlabelled: Multiple myeloma (MM) develops from well-defined precursor stages; however, invasive bone marrow (BM) biopsy limits screening and monitoring strategies for patients. We enumerated circulating tumor cells (CTC) from 261 patients (84 monoclonal gammopathy of undetermined significance, 155 smoldering multiple myeloma, and 22 MM), with neoplastic cells detected in 84%. We developed a novel approach, MinimuMM-seq, which enables the detection of translocations and copy-number abnormalities through whole-genome sequencing of highly pure CTCs.
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- Smoldering multiple myeloma (SMM) is an early stage of multiple myeloma (MM) that varies widely in how fast it progresses to active disease.* -
- Researchers analyzed genetic data from 214 SMM patients and discovered six unique genetic subtypes using advanced clustering techniques.* -
- Three of these subtypes correlate with a higher risk of developing active MM, suggesting they could improve current methods for assessing patient risk levels in clinical settings.*
Article Synopsis
- - The study investigates the prevalence of monoclonal gammopathy of undetermined significance (MGUS) in high-risk U.S. populations, particularly focusing on individuals of African descent and those with a family history of related diseases, using advanced mass spectrometry techniques.
- - Out of 7,622 participants screened, 6,305 (83%) were identified as high risk based on their race or family history of hematological conditions, ensuring a diverse representation beyond previous estimates relying on predominantly White populations.
- - The research also highlights the importance of utilizing new screening technology and emphasizes longitudinal follow-up data to better understand the clinical implications of monoclonal gammopathies in these high-risk groups over time.
Multiple myeloma (MM) is a plasma-cell neoplasm that is treated with high-dose chemotherapy, autologous stem cell transplant (ASCT) and long-term immunomodulatory drug (IMiD) maintenance. The presence of somatic mutations in the peripheral blood is termed clonal hematopoiesis of indeterminate potential (CHIP) and is associated with adverse outcomes. Targeted sequencing of the stem cell product from 629 MM patients treated by ASCT at the Dana-Farber Cancer Institute (2003-2011) detects CHIP in 136/629 patients (21.
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- Smoldering multiple myeloma (SMM) is a precursor to multiple myeloma (MM) with a significant risk of progression, indicating a need for better risk assessment tools beyond just clinical metrics.
- Researchers utilized next-generation sequencing on 214 SMM patients and discovered that key genetic alterations linked to progression to MM are usually already present at SMM diagnosis.
- The study identified specific genetic changes, particularly in certain pathways, as independent risk factors for progression, which were validated in an external cohort, suggesting potential for improved precision in predicting disease evolution from SMM to MM.