December 2018—Applying deep convolutional neural networks to diagnostic breast biopsies: The breast stromal microenvironment is a pivotal factor in breast cancer development, growth, and metastases. Although pathologists often detect morphologic changes in stroma by light microscopy, visual classification of such changes is subjective and nonquantitative, limiting its diagnostic utility.Read More »
December 2018—Profiling of chromatin-accessibility landscape of primary cancers: The chromatin-accessibility profiles generated in this study by The Cancer Genome Atlas represent the largest pan-cancer effort to characterize the regulatory landscape of human cancers. The study primarily used an assay for transposase-accessible chromatin using sequencing (ATAC-seq).Read More »
Preparing for passage of regulatory requirements for laboratory-developed tests: November 2018—The FDA has raised concerns, in recent years, about several high-risk laboratory-developed tests (LDTs), including a concern that patients may undergo unnecessary treatment or delay or forego treatment due to the inaccuracy of such tests. Other agencies have also challenged the validity, accuracy, oversight, and safety of LDTs, a subset of IVDs that are intended for clinical use and designed, manufactured, and used within a single laboratory.Read More »
November 2018—HER2: a pan-cancer event highly enriched in AR-driven breast tumors: Approximately one in five breast cancers is driven by amplification and overexpression of the HER2 receptor kinase, and HER2 enriched is one of four major transcriptional subtypes of breast cancer. The authors conducted a study to understand the genomics of HER2 amplification independent of subtype, as well as the underlying drivers and biology of HER2-enriched (HER2E) tumors.Read More »
November 2018—Common genetic variants contribute to risk of rare severe neurodevelopmental disorders: The traditional paradigm broadly classifies genetic diseases into rare disorders caused by a single gene variant and common disorders caused by complex interplay among multiple genes. However, recent research has shown that penetrance and disease phenotype, even in disorders thought to be monogenic, are affected by common genetic variation.Read More »
RT-PCR detection of B. microti parasites using BMN antigens as amplification targets October 2018—Babesia microti infection, which is transmitted through the bite of an infected tick, is a growing health concern and continues to be a threat to the blood supply, with 22 states having reported cases of babesiosis in 2014. While most healthy adults with Babesia infection are asymptomatic or present with mild symptoms, including fever, fatigue, and anemia, babesiosis can be severe or fatal in neonates, the elderly, and immunosuppressed individuals.Read More »
Analysis of ZC3H7B-BCOR high-grade endometrial stromal sarcomas October 2018—High-grade endometrial stromal sarcoma likely encompasses underrecognized tumors harboring genetic abnormalities besides YWHAE–NUTM2 fusion. Triggered by three initial endometrial stromal sarcomas with ZC3H7B–BCOR fusion characterized by high-grade morphology and aggressive clinical behavior, the authors investigated the clinicopathologic features of this genetic subset by expanding the analysis to 17 such tumors. All of the tumors occurred in women who were a median age of 54 (range, 28–71) years.Read More »
Cell-free DNA tumor mutational burden predicts efficacy of immune checkpoint inhibitors October 2018—Immune checkpoint inhibitors have emerged as a potent class of therapy for a variety of malignancies. The biologic rationale for these drugs is that somatic mutations, not necessarily in cancer driver genes, may accumulate in tumor cells, resulting in amino acid changes that create neoantigens (epitopes not present in normal cells during maturation of the immune system).Read More »
Outcomes of an audit of repeat lab testing at an academic medical center
September 2018—Overutilization of laboratory tests increases health care costs and may lead to false-positive test results and ambiguous findings. Unnecessary testing can result from a single order from a provider, an automated function in an order set, or a combination of the two.
Thymoma: a clinicopathological correlation of surgical resection cases
September 2018—The authors presented 1,470 surgical resections for thymoma from the pathology files of 14 institutions in 11 countries with the purpose of determining and correlating a simplified histological classification of thymoma and pathological staging with clinical outcome.