Mayo Clinic Laboratory and Pathology Research Roundup: Sept. 18

By Kelley Luedke • September 18, 2017

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The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.

Featured Abstract

Non-V600 BRAF Mutations Define a Clinically Distinct Molecular Subtype of Metastatic Colorectal Cancer

Molecular diagnostic testing has become an integral part of the evaluation of patients with metastatic colorectal cancer (CRC). Expanded mutational testing, such as next-generation sequencing (NGS), often identifies mutations with unclear clinical or prognostic implications. One such example is BRAF mutations that occur outside of codon 600 (non-V600 BRAF mutations). Mayo Clinic researchers conducted this multicenter, retrospective cohort study to characterize the clinical, pathologic, and survival implications of non-V600 BRAF mutations in metastatic CRC. They pooled patients in whom non-V600 BRAF mutations were identified from NGS databases at three large molecular genetics reference laboratories. A total of 9,643 patients with metastatic CRC underwent NGS testing. Researchers identified 208 patients with non-V600 BRAF mutations, which occurred in 2.2% of all patients tested and accounted for 22% of all BRAF mutations identified. Cancers with non-V600 BRAF mutations, compared with cancers with V600E BRAF mutations, were found in patients who were significantly younger, fewer female patients, and patients who had fewer high-grade tumors or right-sided primary tumors. Median overall survival was significantly longer in patients with non-V600 BRAF-mutant metastatic CRC compared with those with both V600E BRAF-mutant and wild-type BRAF metastatic CRC. In multivariable analysis, non-V600 BRAF mutation was independently associated with improved overall survival. Based on the results, Non-V600 BRAF mutations occur in approximately 2.2% of patients with metastatic CRC and define a clinically distinct subtype of CRC with an excellent prognosis. The review was published in Journal of Clinical Oncology.

Published to PubMed This Week

• A 59-Year-Old Man with New Jaundice
  Gastroenterology
• Impact of Center Left Ventricular Assist Device Volume on Outcomes After Implantion: An INTERMACS Analysis
  JACC Heart Fail
  
• The Almost-Normal Liver Biopsy: Presentation, Clinical Associations, and Outcome
  American Journal of Surgical Pathology
• Validation of a Mitotic Index Cutoff as a Prognostic Marker in Undifferentiated Uterine Sarcomas
  American Journal of Surgical Pathology
• Paucicellular Fibrointimal Proliferation Characterizes Pediatric Pulmonary Vein Stenosis: Clinicopathologic Analysis of 213 Samples From 97 Patients
  American Journal of Surgical Pathology
• Frequency of Mutations in a Large Series of Clinically Ascertained Ovarian Cancer Cases Tested on Multi-Gene Panels Compared to Reference Controls
  Gynecologic Oncology
• Impact of Metastasectomy in the Multimodality Approach for <i>BRAF</i> V600E Metastatic Colorectal Cancer: The Mayo Clinic Experience
  Oncologist
• Role of Admission Troponin-T and Serial Troponin-T Testing in Predicting Outcomes in Severe Sepsis and Septic Shock
  Journal of the American Heart Association
• Antimicrobial Susceptibility and Clonality of Clinical Ureaplasma Isolates in the United States
  Antimicrobial Agents and Chemotherapy
• Sexual Function and Breast-Specific Sensuality Remain Important After Breast Cancer Surgery
  Annals of Surgical Oncology
• Survival in Surgical and Nonsurgical Patients With Superior Sulcus Tumors
  Annals Thoracic Surgery
• Factor IX Gene (F9) Genotyping Trends and Spectrum of Mutations Identified: A Reference Laboratory Experience
  Seminars in Thrombosis and Hemostasis
• FISH Identifies a KAT6A/CREBBP Fusion Caused by a Cryptic Insertional t(8;16) in a Case of Spontaneously Remitting Congenital Acute Myeloid Leukemia with a Normal Karyotype
  Pediatric Blood & Cancer

Kelley Luedke

Kelley Luedke is a Marketing Channel Manager at Mayo Clinic Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her kitty, and exploring new foods.