Marfan syndrome is one of the most common connective tissue diseases and may manifest with a range of symptoms and pathologic changes. We present a retrospective series of 5 cases of patients with Marfan syndrome and pulmonary pathology. Patients were young to middle-aged adults with absent or minimal smoking histories and absent to severe clinical pulmonary symptoms. Tissue specimens were obtained from the surgical pathology and autopsy services. Histologic examination revealed a consistent pattern of distal acinar emphysema in all patients. Comparisons are made with other cystic-type diseases of the lung that may histologically mimic this pattern. This is the largest contemporary series of histologic pulmonary involvement of Marfan syndrome and the first to describe this pattern of pulmonary changes in this patient population.
The majority (86%) of thyroid FNAs from patients with MTC are concordant (positive/suspicious for MTC). Patterns of failure include sampling error and limited typical morphologic features, particularly a lack of plasmacytoid morphology and cellular dyshesion. A high level of suspicion for MTC is critical to ensure patients receive appropriate preoperative testing. Cancer Cytopathol 2018;126:397-405. © 2018 American Cancer Society.
BACKGROUND: BRAF mutation V600E (substitution Val600Glu) is a molecular signature for papillary thyroid carcinoma (PTC). Testing for BRAF mutation is clinically useful in providing prognostic prediction and facilitating accurate diagnosis of PTC in thyroid fine-needle aspirate (FNA) samples. METHODS: This study assessed the correlation of cellularity with DNA yield and compared 2 technical platforms with different sensitivities in detection of BRAF mutation in cytologic specimens. Cellularity was evaluated based on groups of 101 cells on a ThinPrep slide: 11 (1-5 groups), 21 (6-10 groups), 31 (11-20 groups), and 41 (> 20 groups). Genomic DNA was extracted from residual materials of thyroid FNAs after cytologic diagnosis. RESULTS: Approximately 49% of thyroid FNA samples had low cellularity (1-21). DNA yield is proportionate with increased cellularity and increased nearly 4-fold from 11 to 41 cellularity in cytologic samples. When applied to BRAF mutational assay, using a cutoff of 6 groups of follicular cells with 101 cells per group, 96.7% of cases yielded enough DNA for at least one testing for BRAF mutation. Five specimens (11.6%) with lower cellularity did not yield sufficient DNA for duplicate testing. Comparison of Sanger sequencing to allele-specific polymerase chain reaction methods shows the latter confers better sensitivity in detection of BRAF mutation, especially in limited cytologic specimens with a lower percentage of malignant cells. CONCLUSIONS: This study demonstrates that by using 6 groups of 101 follicular cells as a cutoff, nearly 97% of thyroid FNA samples contain enough DNA for BRAF mutational assay. Careful selection of a molecular testing system with high sensitivity facilitates the successful conduction of molecular testing in limited cytologic specimens.
Context.-Operator training, quality control, and proper follow-up for out-of-range quality control (QC) events are crucial steps that must be adequately performed and documented to ensure excellent patient care and regulatory compliance.Objective.-To examine point-of-care testing (POCT) personnel training and QC documentation/compliance.Design.-Participants in a POCT documentation study of the College of American Pathologists Q-Probes program collected data retrospectively for glucose and urine dipstick testing regarding test operators, operator competency assessment, and QC documentation. Documentation was assessed for participant adherence to 4 quality indicators: (1) whether test operator training was up to date, (2) whether the test operator names were noted in the test records, (3) whether QC was performed, and (4) whether out-of-range QC events were followed up. Data were analyzed for associations with institutional demographic and practice variables.Results P oint-of-care testing (POCT) is defined as testing that occurs at or near the site of patient care, with the goal of providing rapid information and improving patient outcomes.1,2 Point-of-care testing is growing several times faster than is central laboratory testing in the United States 2,3 and has become ubiquitous in both hospitals and outpatient care settings. Because POCT is typically performed by nonlaboratory personnel, many health care workers are now performing a wide variety of tests. Quality patient care is dependent on accurate laboratory results, necessitating assurance that POCT is well documented, equipment is well maintained, and testing operators are qualified to perform the tests. It is also important to ensure that quality control (QC) procedures are run consistently and that documentation of QC performance and follow-up of out-of-range QC results are recorded to ensure accurate results and high-quality patient care. Additionally, POCT is subject to regulatory requirements that, if ignored, can lead to loss of accreditation. 4 The College of American Pathologists (CAP) POCT accreditation checklist requires that (1) POCT instruments have defined QC ranges, (2) QC results are evaluated daily, (3) corrective action is taken when results exceed defined tolerance limits, and (4) QC results are verified before patient results are reported. 5A complete POCT program includes organization, supervision, written procedures, operator training and competency, instrument evaluation, quality control, proficiency testing, and appropriate recording of result and notification, all with the necessary documentation. However, achieving compliance with regulatory guidelines and ensuring the quality of POCT has proved challenging in many institutions. 6 In the authors' experience, performance of traditional QC is a misunderstood and undervalued concept for many nonlaboratory personnel because they are largely unfamiliar
Although fixation time improvements have been made, assay validation deficiencies still exist. The results of this survey were shared within the CAP, including the Laboratory Accreditation Program and the ASCO/CAP panel revising the HER2 guidelines published in October 2013. The Laboratory Accreditation Program checklist was changed to strengthen HER2 validation practices.
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