The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.
Mate Pair Sequencing Outperforms Fluorescence in situ Hybridization in the Genomic Characterization of Multiple Myeloma.
Fluorescence in situ hybridization (FISH) is currently the gold-standard assay to detect recurrent genomic abnormalities of prognostic significance in multiple myeloma (MM). Since most translocations in MM involve a position effect with heterogeneous breakpoints, we hypothesize that FISH has the potential to miss translocations involving these regions. We evaluated 70 bone marrow samples from patients with plasma cell dyscrasia by FISH and whole-genome mate-pair sequencing (MPseq). Thirty cases (42.9%) displayed at least one instance of discordance between FISH and MPseq for each primary and secondary abnormality evaluated. Nine cases had abnormalities detected by FISH that went undetected by MPseq including 6 tetraploid clones and three cases with missed copy number abnormalities. In contrast, 19 cases had abnormalities detected by MPseq that went undetected by FISH. Seventeen were MYC rearrangements and two were 17p deletions. MPseq identified 36 MYC abnormalities and 17 (50.0% of MYC abnormal group with FISH results) displayed a false negative FISH result. MPseq identified 10 cases (14.3%) with IgL rearrangements, a recent marker of poor outcome, and 10% with abnormalities in genes associated with lenalidomide response or resistance. In summary, MPseq was superior in the characterization of rearrangement complexity and identification of secondary abnormalities demonstrating increased clinical value compared to FISH. Via Blood Cancer Journal.
Published to PubMed This Week
- Targetability of STAT3-JAK2 Fusions: Implications for T-cell Lymphoproliferative Disorders of the Gastrointestinal Tract.
- Predictive and Precision Medicine with Genomic Data.
- Extracorporeal Membrane Oxygenation Use in Acute Myocardial Infarction in the United States, 2000 to 2014.
Circulation Heart Failure
- Detection and Prevalence of Monoclonal Gammopathy of Undetermined Significance: A Study Utilizing Mass Spectrometry-Based Monoclonal Immunoglobulin Rapid Accurate Mass Measurement.
Blood Cancer Journal
- Implications and Outcomes of MRD-Negative Multiple Myeloma Patients with Immunofixation Positivity.
American Journal of Hematology
- Ketamine and Active Ketamine Metabolites Regulate STAT3 and the Type I Interferon Pathway in Human Microglia: Molecular Mechanisms Linked to the Antidepressant Effects of Ketamine.
- Comparing Survival Outcomes Between Surgical and Radiographic Lymph Node Assessment in Locally Advanced Cervical Cancer: A Propensity Score-Matched Analysis.
Gynecology and Oncology
- Comparison of Three Commercial Tools for Metagenomic Shotgun Sequencing Analysis.
Journal of Clinical Microbiology
- Factors Associated with Weight Loss After Metabolic Surgery in a Multiethnic Sample of 1012 Patients.
- Concordance of PD-1 and PD-L1 (B7-H1) in Paired Primary and Metastatic Clear Cell Renal Cell Carcinoma.
- Endoscopic Ultrasound May be Used to Deliver Gene Expression Signatures Using Digital mRNA Detection Methods to Immunophenotype Pancreatic Ductal Adenocarcinoma to Facilitate Personalized Immunotherapy.
- Proceedings From the Ice Hockey Summit III: Action on Concussion.
Clinical Journal of Sports Medicine
- North American Pediatric Surgery Fellows' Preparedness for Humanitarian Surgery.
Journal of Pediatric Surgery
- Clinical and Histopathological Findings of Patients with Orbital Granulomatosis with Polyangiitis Cases Refractory to Rituximab.
Cancer Journal of Ophthalmology
- Ewing Sarcoma in Older Adults: A Clinicopathologic Study of 50 Cases Occurring in Patients Aged ≥40 Years, With Emphasis on Histologic Mimics.
International Journal of Surgical Pathology