Categoría: The Journal of Molecular Diagnostics

Next-generation sequencing (NGS) has become integral to the clinical workup of blood cancers. However, there remain barriers to implementing clinical NGS, including the separate workflows required for DNA and RNA sequencing, complex bioinformatics anal…

Candida auris is a high-priority multidrug-resistant yeast. In New York, C. auris is reportable, and surveillance screening is recommended for high-risk patients. This study provides a retrospective review of the yield and characteristics of C. auris c…

Liquid biopsies quantifying mutations in circulating tumor DNA by targeted next-generation sequencing have been gaining popularity. They are performed by various library preparation methods, each with distinct advantages and limitations. This work intr…

In high-risk neuroblastoma, identification of ALK activating genetic alterations is considered for clinical decision-making in a relapse setting or more recently in frontline treatment. The accurate diagnosis of genetic alterations requires harmonizati…

Preanalytical tissue assessment is an important step in cancer molecular testing; however, its impact on molecular test results has not been systematically evaluated. This study describes a quality-improvement project in which routine histology review …

RNA-based targeted sequencing aids the detection of several types of variants in hematologic and other malignancies, including splice-altering variants. However, accurately identifying clinically relevant mis-splicing events remains challenging because…

Gene expression signatures are important for classifying lymphoid malignancies, although routine diagnostic workflows predominantly use immunohistochemical staining and fluorescence in situ hybridization. These traditional methods are labor intensive a…

Analyzing somatic mutations in liquid biopsies poses a real challenge in treating patients with breast cancer. Because of the high sensitivity required to detect circulating tumor DNA, which may be present at low levels, digital PCR analysis seems high…

Genomic mosaicism is underdiagnosed owing to its variable tissue distribution and the limitations of single-tissue testing. Cytogenomic techniques applied across multiple tissues can uncover clinically actionable variants and clarify genotype-phenotype…

Bladder cancer (BC) is a lethal urological malignancy, with current diagnostic and follow-up methods being invasive and costly. Cell-free DNA (cfDNA) in liquid biopsies has shown promise in cancer diagnostics, but its fragmentation and integrity in uri…