Background: Medullary thyroid carcinoma (MTC) is an aggressive malignancy originating from the parafollicular C cells. Preoperatively, thyroid nodule fine-needle aspiration cytology (FNAC) and pathogenic gene mutations are definitive in approximately one-half of cases. MicroRNAs (miRNAs) are endogenous, noncoding, single-stranded RNAs that regulate gene expression, a characteristic that confers the potential for identifying malignancy.
View Article and Find Full Text PDFBackground: Approximately 25% of thyroid nodule fine-needle aspirates (FNAs) have cytology that is indeterminate for malignant disease. Accurate risk stratification of these FNAs with ancillary testing would reduce unnecessary thyroid surgery.
Methods: We evaluated the performance of an ancillary multiplatform test (MPTX) that has three diagnostic categories (negative, moderate, and positive).
Molecular analysis is used to evaluate the risk of malignancy for thyroid fine-needle aspirates, identified as indeterminate by microscopic cytology, on the basis of the detection of various oncogenic DNA mutations and fusion transcripts or on the use of various mRNAs or miRNA-based classifier algorithms. Our approach has been to use a combination test using the detection of oncogenic mutations/fusion transcripts and an miRNA expression-based classifier algorithm. To improve the performance of the combination test, the next-generation sequencing (NGS)-based mutational panel was expanded from the detection of 5 oncogenes to 10 oncogenes and tumor suppressor genes and the detection of fusion transcripts was increased from 6 to 38.
View Article and Find Full Text PDFIntroduction: Focused and expanded mutation panels were assessed for the incremental utility of using an expanded panel in combination with microRNA risk classification.
Methods: Molecular results were reviewed for patients who underwent either a focused mutation panel (ThyGenX®) or an expanded mutation panel (ThyGeNEXT®) for strong and weak oncogenic driver mutations and fusions. microRNA results (ThyraMIR®) predictive of malignancy, including strong positive results highly specific for malignancy, were examined.
Background: Molecular testing of thyroid fine-needle aspirates has demonstrated value in cases of indeterminate cytology (Bethesda categories III, IV, and V) enabling optimized individual patient management leading to better outcomes with health economic benefits. For most molecular testing modalities, including mutational panels and classifier analyses, part or all of a dedicated needle aspiration pass is required to obtain an adequate sample for testing. Our analysis, which is based on a combination approach (mutation detection and microRNA classifier status), has documented clinical validity and utility when performed on thyroid fine-needle aspirates placed directly into RNA preservative fluid.
View Article and Find Full Text PDFMyoepitheliomas are rare neoplasms that are typically found in the major and minor salivary glands and represent approximately 1.5% of all salivary gland neoplasms. We present a patient with an exophytic anterior midline neck mass, which was initially believed to be a thyroid isthmus nodule that underwent fine needle aspiration (FNA) biopsy.
View Article and Find Full Text PDFBackground: In 2010, transfusion-associated circulatory overload (TACO) was the second most common cause of transfusion-related mortality reported to the Food and Drug Administration. We sought to determine the rate of TACO caused by plasma transfusion.
Study Design And Methods: This study was conducted in two parts: 1) A retrospective analysis to determine the prevalence of TACO reactions caused by plasma at a tertiary care hospital from 2003 to 2010 was performed by analyzing the blood bank's electronic transfusion reaction records and 2) active surveillance of plasma recipients to determine if unreported TACO reactions had occurred over a 1-month period at the same hospital.