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Molecular Diagnostics

Image: The NovaSeq 6000 sequencing instrument (Photo courtesy of Illumina)

Genome Sequencing More Informative than Cytogenetic Analysis in Myeloid Cancers

Genetic profiling is a routine component of the diagnostic workup for an increasing number of cancers and is used to predict clinical outcomes and responses to targeted therapies. Genomic analysis is essential for risk stratification in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). More...
24 Mar 2021
Image: Bone marrow smear showing vacuoles in myeloid cells in a patient with VEXAS (Photo courtesy of Katherine Calvo, MD, PhD, and Marcela Ferrada, MD)

Genetic Mutations Identified for Rare VEXAS Syndrome

VEXAS syndrome is a serious inflammatory condition which develops in men over 50, causing them to become very sick and fatigued, and can be fatal. It was originally thought to be rare, but a new study has identified genetic mutations which indicate that the disease is actually much more common. More...
23 Mar 2021
Image: The BD LSRFortessa X-20 cell analyzer (Photo courtesy of BD Biosciences)

Immune Cells in Cerebrospinal Fluid Predict Response to Immunotherapy

Immune checkpoint inhibitors including anti-PD1, anti-PD-L1, and anti-CTLA4, have shown significant clinical benefits in patients with progressive or metastatic solid tumors, including some brain metastasis. Notably, these immune-based therapies have improved outcomes for some of those suffering from lung cancer and melanoma. More...
22 Mar 2021
Image: Diagram of an LC-MS system (Photo courtesy of Wikimedia Commons)

A Rapid, Non-Invasive Skin Test for Diagnosis of Parkinson’s Disease

A team of British investigators has developed a rapid, non-invasive method for identifying Parkinson's disease based on compounds found on the surface of skin. More...
22 Mar 2021
Image: Histopathology of pancreatoblastoma showing a large squamoid nest surrounded by sheet of bland monomorphic cells. Many of the squamous cell nuclei are optically clear due to accumulation of biotin (Photo courtesy of Dharam Ramnani, MD).

Pediatric Pancreatic Cancer Diagnosed from cfDNA Fragments in Urine

Although rare, pancreatoblastoma is the most common pancreatic tumor of young children. Carcinoma of acinar cell origin has rarely been reported in older children. Ductal adenocarcinoma and its many variants are the most common pancreatic tumors in adults, but these are exceedingly rare in children. More...
17 Mar 2021
Image: Model of clonal hematopoiesis in normal and inflammatory conditions. In a normal person, hematopoietic stem cells (HSCs) will differentiate and self-renew over the course of a lifetime to replenish the blood system. HSCs will acquire somatic mutations as a result of proliferative stress (Photo courtesy of University of California Irvine).

Clonal Hematopoiesis and Recurrent Mutations Identified in Blood Cancers

Clonal hematopoiesis of indeterminate potential (CHIP) is characterized by detectable hematopoietic-associated gene mutations in a person without evidence of hematologic malignancy. Somatic mutations at hotspots (genetic loci observed to be frequently mutated across cancer patients) often drive or contribute to cancer pathogenesis. More...
16 Mar 2021
Image: Cartoon representation of the molecular structure of the hexokinase-2 (HK2) protein (Photo courtesy of Wikimedia Commons)

Liquid Biopsy Technique Detects Circulating Tumor Cells in Patients with Non-Small Cell Lung Cancer

A liquid biopsy technique based on hexokinase-2, a key enzyme in glucose metabolism, is able to detect circulating tumor cells (CTCs) in patients with non-small cell lung cancer (NSCLC). More...
16 Mar 2021
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