Mayo Clinic Laboratory and Pathology Research Roundup: June 6

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

Study Helps Uncover Occurrence and Prognostic Significance of Cytogenetic Evolution in Patients with Multiple Myeloma

MultipleMyeloma_960x540Multiple myeloma, a treatable but incurable disease where collections of abnormal plasma cells accumulate in the bone marrow, is the second most common type of blood cancer in the U.S. Cytogenetic evaluation at the time of diagnosis—which analyzes plasma cells from the bone marrow for abnormalities in the genes—has been shown to be of prognostic significance and is essential for risk stratification in multiple myeloma. However, little has been known about the development of cytogenetic abnormalities later on in the course of the disease or how this might influence prognosis. Findings of a long-term study at Mayo Clinic, recently published in Blood Cancer Journal, suggest that the disease changes over time in some patients and not so much in others.

Featured Abstracts

The Histone H3.3K36M Mutation Reprograms the Epigenome of Chondroblastomas

lab-workOver 90% of chondroblastomas contain a heterozygous mutation replacing lysine 36 with methionine (K36M) in the histone H3 variant H3.3. Mayo Clinic researchers conducted a study to show that H3K36 methylation is reduced globally in chondroblastomas and in chondrocytes harboring the same genetic mutation due to inhibition of at least two H3K36 methyltransferases, MMSET and SETD2, by the H3.3K36M mutant proteins. Genes with altered expression as well as H3K36 di- and tri-methylation in H3.3K36M cells are enriched in cancer pathways. In addition, H3.3K36M chondrocytes exhibit several hallmarks of cancer cells including increased ability to form colonies, resistance to apoptosis, and defects in differentiation. Thus, H3.3K36M proteins reprogram H3K36 methylation landscape and contribute to tumorigenesis in part through altering the expression of cancer-associated genes. The study was published in Science

Published to PubMed This Week



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.