Mayo Clinic Laboratory and Pathology Research Roundup: June 20

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

Featured Study of the Week

Analyzing Patients with Mosaic Methylation Patterns of the Prader-Willi/Angelman Syndrome Critical Region

aypar-umut-thumbnailPrader-Willi syndrome and Angelman syndrome are distinct genetic disorders caused by lack of gene expressions. Even though the symptoms of each disease are strikingly different, some patients have a mosaic methylation pattern of the Prader-Willi/Angelman syndrome critical region. To further understand the mechanism of pathogenesis and phenotype of patients with mosaic methylation pattern, Mayo Clinic researchers studied 10 patients with mosaic methylation pattern at the Mayo Clinic Clinical Molecular Genetics and Clinical Cytogenetics Laboratories. The study was published in Molecular Cytogenetics.

Featured Abstracts

Application of the Stage, Size, Grade, and Necrosis (SSIGN) Score for Clear Cell Renal Cell Carcinoma in Contemporary Patients

Original Title: 89-76T; Box: 6.8The tumor stage, size, grade, and necrosis (SSIGN) score was originally defined using patients treated with radical nephrectomy (RN) between 1970 and 1998 for clear cell renal cell carcinoma, excluding patients treated with partial nephrectomy (PN). Mayo Clinic researchers conducted a study to characterize the original SSIGN score cohort with longer follow-up and evaluate a contemporary series of patients treated with RN and PN. Based on the results, the SSIGN score remains a useful prediction tool for patients undergoing RN with 20-yr follow-up. When applied to contemporary RN and PN patients, the score retained strong predictive ability. These results should assist in patient counseling and help guide surveillance for clear cell renal cell carcinoma patients treated with RN or PN. The study was published in European Urology.

MAPT Haplotype H1G Is Associated with Increased Risk of Dementia with Lewy Bodies

Screen Shot 2016-06-19 at 12.36.21 PMThe MAPT H1 haplotype has been associated with several neurodegenerative diseases. Mayo Clinic researchers explored the role of MAPT haplotypic variation in risk of Dementia with Lewy bodies. The team performed haplotypic association tests and detected an association with the protective H2 haplotype in the combined series. They fine-mapped the locus and identified a relatively rare haplotype, H1G, that is associated with an increased risk of Dementia with Lewy bodies. These results support a role for H1 and specifically H1G in susceptibility to Dementia with Lewy bodies. However, the exact functional variant at the locus is still unknown, and additional studies are warranted to fully explain genetic risk of Dementia with Lewy bodies at the MAPT locus. The study was published in Alzheimer's & Dementia.

Integrated Mate-Pair and RNA Sequencing Identifies Novel, Targetable Gene Fusions in Peripheral T-Cell Lymphoma

t-cell-960x540Peripheral T-cell lymphomas (PTCLs) represent a heterogeneous group of T-cell malignancies that generally demonstrate aggressive clinical behavior, often are refractory to standard therapy, and remain significantly understudied. The most common World Health Organization subtype is PTCL, not otherwise specified (NOS), essentially a "wastebasket" category because of inadequate understanding to assign cases to a more specific diagnostic entity. Identification of novel fusion genes has contributed significantly to improving the classification, biologic understanding, and therapeutic targeting of PTCLs. In a recent study, Mayo Clinic researchers integrated mate-pair DNA and RNA next-generation sequencing to identify chromosomal rearrangements encoding expressed fusion transcripts in PTCL, NOS. The results identified VAV1 fusions as recurrent and targetable events in PTCLs, and highlight the potential for clinical sequencing to guide individualized therapy approaches for this group of aggressive malignancies. The study was published in Blood.

Published to PubMed This Week

brentwestra (@brentwestra)


Brent Westra is a Marketing Segment Manager at Mayo Clinic Laboratories. He leads marketing strategies for product management and specialty testing along with new media innovations. Brent has worked at Mayo Clinic since 2011.