A Novel Variant Detected with Multiple Testing Modalities.

Chronic myeloid leukemia (CML) is associated with several breakpoint regions that result in different fusion transcripts. These include the major breakpoint region (M-BCR), minor breakpoint region (m-BCR), and mu breakpoint region (u-BCR) corresponding to p210, p190, and p230 fusion transcripts, respectively. This patient is a 38-year-old female with a new diagnosis of CML in chronic phase.

Normalization of mutant transcript to the wild-type transcript.

Current guidelines recommend that Acute Myeloid Leukemia (AML) patients with mutations should be monitored for measurable residual disease by quantifying the transcripts and normalizing them to transcripts. In this short report, a simple and highly accurate method to quantify the mutant transcript normalized to the wild-type transcript is presented. The percent mutant transcript correlates very well to the corresponding mutant allele frequency as determined by DNA-based methods allowing direct comparison of investigational studies that use RNA-based or DNA-based methods for monitoring mutations.

Relationships between adiposity distribution and metabolic health in preconception women in South Africa.

Objective: Adipose tissue is a central regulator of metabolic health and a contributor to systemic inflammation. Patterns of adiposity deposition are important to understand for optimizing health. This study aimed to asses relationships between adiposity deposition and metabolic and inflammatory biomarkers in South African women prior to conception.