Clinical Pathology

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Oct 3, 2018 - autosomal dominant connective tissue disorder involv- ing multiple ... lesions on bilateral cheeks consistent with angiofibromas. CT scan ...
AJCP  / Meeting Abstracts

Clinical Pathology Adult Diagnosed Tuberous Sclerosis Complex in a Patient with Renal Cell Carcinoma Amit Reddy, MBBS, Teja Poosarla, MD, and John Henegan, MD; University of Mississippi Medical Center

Mislabeled and Unacceptable Blood Bank Specimens: A 3-Year Single-Institution Retrospective Review Sapna Desai, MD, Hermineh Aramin, Paul Fiedler, MD, and Theresa Pearson, MT(ASCP), SBB; Danbury Hospital

S68 Am J Clin Pathol 2018;150:S68-S75 DOI: 10.1093/AJCP/AQY093

A Rapid, Simple, and Cost-Effective Method of von Willebrand Factor Multimer Analysis for Use in the Clinical Laboratory and Telemedicine David Gajzer, MD,1 Corey Suthumphong,2 and David Andrews, MD2; 1University of Miami/Jackson Memorial Hospital and 2University of Miami Introduction: von Willebrand factor (VWF) multimer analysis can be time- and cost-intensive, requiring significant technical expertise. Our aim was to develop a method that reliably identifies the different von Willebrand disease (VWD) subtypes; is rapid, simple, and cost-effective; and allows for remote review of test results. Methods: Archived plasma samples, along with normal plasma controls, were subjected to submarine, intermediate-resolution (1.4%) agarose gel electrophoresis (SeaKem

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Introduction:  Tuberous sclerosis complex (TSC) is a rare autosomal dominant connective tissue disorder involving multiple systems that affect 1 in 10,000 live births. Approximately 2% to 4% of people with TSC are diagnosed with renal cell carcinoma (RCC), with an onset 20 to 30  years earlier than in the general population. The diagnosis is established by clinical findings or identification of pathogenic variants in TSC1 or TSC2. The presentation of the disease varies substantially, and diagnosis can be missed during childhood. Here we present a case of TSC diagnosed in an adult. Case Report:  A 56-year-old female with history of endstage renal disease, coronary artery disease, and RCC with a right nephrectomy 14 years earlier presented for routine follow-up. Physical examination showed multiple small lesions on bilateral cheeks consistent with angiofibromas. CT scan showed multiple bilateral 2- to 3-mm scattered stable pulmonary nodules, evidence of prior right nephrectomy, stable extensive mixed-density masses in left kidney, and persistent edematous changes with soft tissue infiltration into left renal pelvis and proximal ureter. Previous MRI of the brain revealed a subependymal nodule. The presence of subependymal nodule and angiofibromas are major criteria for TSC, confirming its clinical diagnosis. Discussion: Certain findings should prompt testing for hereditary syndromes when assessing patients with RCC, including bilateral/multifocal RCC, family history, certain renal tumor histologies, and clinical manifestations of known hereditary RCC syndromes. Clinicians should also consider hereditary RCC syndromes such as TSC in all patients with RCC diagnosed at an age less than 47 years old like the case presented. Many hereditary RCC syndromes have a subtle presentation, which may delay their diagnosis. Identifying hereditary RCC syndromes is important as their diagnosis may lead to downstream testing for associated clinical manifestations as well as cascade family testing with appropriate genetic counseling.

Objectives:  Our study aims to identify the main causes of specimen rejection and mislabeling for specimens received in the Danbury Hospital Department of Pathology & Laboratory Medicine Blood Bank from 2015 to 2017 and compare these data to national benchmarks. Methods:  We performed a retrospective review of all mislabeled and unacceptable blood samples that were received by the Danbury Hospital Blood Bank from January 2015 to December 2017. A  spreadsheet of mislabeled and unacceptable blood samples was reviewed. The spreadsheet included patient location, problem code (hemolysis, incomplete patient name, medical record number or date of birth, absent or incorrect date of collection, lack of phlebotomist identification, wrong patient name on tube, specimen collected in wrong tube, specimen mislabeled), test type, specimen collected by, action taken, and outcome. Specimens were categorized based on the reason for mislabeling and rejection. Results: Annually, 11,000 specimens on average are received in the DH Blood Bank; 588 mislabeled/unacceptable specimens were documented from 2015 to 2017. Of these, 391 were hemolyzed, 104 were documented to lack phlebotomist identification, 77 were categorized as “other” (mislabeling category option not applicable), 6 were unlabeled, 4 had an incomplete or misspelled patient name, 3 were found to have wrong name on tube, 2 had incorrect specimen in tube, and 1 lacked collection date. Conclusion: The rate of mislabeled and unacceptable specimens collected for our study was 1.8% (588/33,000). Regarding our hemolyzed specimens, national benchmarks prove that improper specimen collection/handling is the most common lab specimen error (86%). This applied for our study as well with a rate of 391 of 588 (66%) mislabeled/unacceptable specimens being due to hemolysis. We plan to further investigate the cause of hemolyzed specimens as well as absence of phlebotomist identification on specimens in future studies.