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Archives of Pathology & Laboratory Medicine

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https://www.readbyqxmd.com/read/28322587/development-and-validation-of-targeted-next-generation-sequencing-panels-for-detection-of-germline-variants-in-inherited-diseases
#1
Avni Santani, Jill Murrell, Birgit Funke, Zhenming Yu, Madhuri Hegde, Rong Mao, Andrea Ferreira-Gonzalez, Karl V Voelkerding, Karen E Weck
CONTEXT: - The number of targeted next-generation sequencing (NGS) panels for genetic diseases offered by clinical laboratories is rapidly increasing. Before an NGS-based test is implemented in a clinical laboratory, appropriate validation studies are needed to determine the performance characteristics of the test. OBJECTIVE: - To provide examples of assay design and validation of targeted NGS gene panels for the detection of germline variants associated with inherited disorders...
March 21, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28301228/the-evolving-classification-of-pulmonary-hypertension
#2
Michelle Foshat, Nahal Boroumand
CONTEXT: - An explosion of information on pulmonary hypertension has occurred during the past few decades. The perception of this disease has shifted from purely clinical to incorporate new knowledge of the underlying pathology. This transfer has occurred in light of advancements in pathophysiology, histology, and molecular medical diagnostics. OBJECTIVES: - To update readers about the evolving understanding of the etiology and pathogenesis of pulmonary hypertension and to demonstrate how pathology has shaped the current classification...
March 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28301227/template-for-reporting-results-of-biomarker-testing-of-specimens-from-patients-with-carcinoma-of-the-endometrium
#3
Teri A Longacre, Russell Broaddus, Linus T Chuang, Michael B Cohen, Elke A Jarboe, George L Mutter, Christopher N Otis, Richard J Zaino
No abstract text is available yet for this article.
March 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28301226/false-negative-interpretation-of-adenocarcinoma-in-situ-in-the-college-of-american-pathologists-gynecologic-pap-education-program
#4
Chengquan Zhao, Barbara A Crothers, Z Laura Tabatabai, Zaibo Li, Mohiedean Ghofrani, Rhona J Souers, Mujtaba Husain, Fang Fan, Rulong Shen, Idris Tolgay Ocal, Christine N Booth, Kelly Goodrich, Donna Russell, Diane D Davey, College Of American Pathologists Cytopathology Committee
CONTEXT: - Adenocarcinoma in situ (AIS) is difficult to correctly interpret on Papanicolaou (Pap) cytology slides and false-negative interpretations of AIS can cause significant problems in daily practice. OBJECTIVE: - To investigate the false-negative interpretation rate of AIS and the factors related to false-negative interpretation through responses in an educational environment. DESIGN: - We retrospectively evaluated 11 337 responses in the PAP Education Program (PAP-Edu) from 173 AIS slides from 2011 to 2015...
March 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28301225/optimal-diagnostic-yield-achieved-with-on-site-pathology-evaluation-of-fine-needle-aspiration-assisted-core-biopsies-for-pediatric-osseous-lesions-a-single-center-experience
#5
Kalyani Patel, Darryl Kinnear, Norma M Quintanilla, John Hicks, Eumenia Castro, Choladda Curry, John Dormans, Daniel J Ashton, J Alberto Hernandez, Hao Wu
CONTEXT: - Image-guided, fine-needle aspiration-assisted core needle biopsy with an on-site evaluation by a pathologist (FNACBP) of osseous lesions is not a common practice in pediatric institutions. OBJECTIVES: - To evaluate the diagnostic adequacy and accuracy of FNACBP for pediatric osseous lesions and to compare the adequacy with procedures that do not use fine-needle aspiration. DESIGN: - Six-year, retrospective review of 144 consecutive children biopsied for osseous lesions with and without fine-needle aspiration assistance...
March 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234015/targeted-next-generation-sequencing-for-human-leukocyte-antigen-typing-in-a-clinical-laboratory-metrics-of-relevance-and-considerations-for-its-successful-implementation
#6
Manish J Gandhi, Deborah Ferriola, Yanping Huang, Jamie L Duke, Dimitri Monos
CONTEXT: -Numerous feasibility studies to type human leukocyte antigens (HLAs) by next-generation sequencing (NGS) have led to the development of vendor-supported kits for HLA typing by NGS. Some clinical laboratories have introduced HLA-NGS, and many are investigating the introduction. Standards from accrediting agencies form the regulatory framework for introducing this test into clinical laboratories. OBJECTIVES: -To provide an assessment of metrics and considerations relevant to the successful implementation of clinical HLA-NGS typing, and to provide as a reference a validated HLA-NGS protocol used clinically since December 2013 at the Children's Hospital of Philadelphia (Philadelphia, Pennsylvania)...
February 24, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28225303/initial-diagnostic-workup-of-acute-leukemia-guideline-from-the-college-of-american-pathologists-and-the-american-society-of-hematology
#7
Daniel A Arber, Michael J Borowitz, Melissa Cessna, Joan Etzell, Kathryn Foucar, Robert P Hasserjian, J Douglas Rizzo, Karl Theil, Sa A Wang, Anthony T Smith, R Bryan Rumble, Nicole E Thomas, James W Vardiman
CONTEXT: -A complete diagnosis of acute leukemia requires knowledge of clinical information combined with morphologic evaluation, immunophenotyping and karyotype analysis, and often, molecular genetic testing. Although many aspects of the workup for acute leukemia are well accepted, few guidelines have addressed the different aspects of the diagnostic evaluation of samples from patients suspected to have acute leukemia. OBJECTIVE: -To develop a guideline for treating physicians and pathologists involved in the diagnostic and prognostic evaluation of new acute leukemia samples, including acute lymphoblastic leukemia, acute myeloid leukemia, and acute leukemias of ambiguous lineage...
February 22, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28169559/challenges-in-diagnosing-medication-resins-in-surgical-pathology-specimens-a-crystal-clear-review-guide
#8
Raul S Gonzalez, Stephen M Lagana, Oliver Szeto, Christina A Arnold
CONTEXT: -Medication resins, including Kayexalate, sevelamer, and bile acid sequestrants, can be encountered in gastrointestinal tract specimens. Their classic histologic appearances have been well documented, but pathologist recognition of the resins is 75%, patient history is not always available, and atypical morphologic findings are sometimes present. OBJECTIVE: -To offer a succinct overview of resins in the gastrointestinal tract, including typical and atypical appearances, in order to serve as a quick reference guide...
February 7, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28169558/validation-of-metagenomic-next-generation-sequencing-tests-for-universal-pathogen-detection
#9
Robert Schlaberg, Charles Y Chiu, Steve Miller, Gary W Procop, George Weinstock
CONTEXT: -Metagenomic sequencing can be used for detection of any pathogens using unbiased, shotgun next-generation sequencing (NGS), without the need for sequence-specific amplification. Proof-of-concept has been demonstrated in infectious disease outbreaks of unknown causes and in patients with suspected infections but negative results for conventional tests. Metagenomic NGS tests hold great promise to improve infectious disease diagnostics, especially in immunocompromised and critically ill patients...
February 7, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28165284/molecular-biomarkers-for-the-evaluation-of-colorectal-cancer-guideline-from-the-american-society-for-clinical-pathology-college-of-american-pathologists-association-for-molecular-pathology-and-american-society-of-clinical-oncology
#10
Antonia R Sepulveda, Stanley R Hamilton, Carmen J Allegra, Wayne Grody, Allison M Cushman-Vokoun, William K Funkhouser, Scott E Kopetz, Christopher Lieu, Noralane M Lindor, Bruce D Minsky, Federico A Monzon, Daniel J Sargent, Veena M Singh, Joseph Willis, Jennifer Clark, Carol Colasacco, R Bryan Rumble, Robyn Temple-Smolkin, Christina B Ventura, Jan A Nowak
OBJECTIVES: -To develop evidence-based guideline recommendations through a systematic review of the literature to establish standard molecular biomarker testing of colorectal cancer (CRC) tissues to guide epidermal growth factor receptor (EGFR) therapies and conventional chemotherapy regimens. METHODS: -The American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology convened an expert panel to develop an evidence-based guideline to establish standard molecular biomarker testing and guide therapies for patients with CRC...
February 6, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28157407/the-impact-of-new-technologic-and-molecular-advances-in-the-daily-practice-of-gastrointestinal-and-hepatobiliary-pathology
#11
Yue Xue, Alton B Farris, Brian Quigley, Alyssa Krasinskas
The practice of anatomic pathology, and of gastrointestinal pathology in particular, has been dramatically transformed in the past decade. In addition to the multitude of diseases, syndromes, and clinical entities encountered in daily clinical practice, the increasing integration of new technologic and molecular advances into the field of gastroenterology is occurring at a fast pace. Application of these advances has challenged pathologists to correlate newer methodologies with existing morphologic criteria, which in many instances still provide the gold standard for diagnosis...
February 3, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28157406/biomarker-molecular-and-technologic-advances-in-urologic-pathology-oncology-and-imaging
#12
Carla L Ellis, Lara R Harik, Cynthia Cohen, Adeboye O Osunkoya
Urologic pathology is evolving rapidly. Emerging trends include the expanded diagnostic utility of biomarkers and molecular testing, as well as adapting to the plethora of technical advances occurring in genitourinary oncology, surgical practice, and imaging. We illustrate those trends by highlighting our approach to the diagnostic workup of a few selected disease entities that pathologists may encounter, including newly recognized subtypes of renal cell carcinoma, pheochromocytoma, and prostate cancer, some of which harbor a distinctive chromosomal translocation, gene loss, or mutation...
February 3, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28157404/whole-slide-imaging-for-analytical-anatomic-pathology-and-telepathology-practical-applications-today-promises-and-perils
#13
Alton Brad Farris, Cynthia Cohen, Thomas E Rogers, Geoffrey H Smith
Whole slide imaging (WSI) offers a convenient, tractable platform for measuring features of routine and special-stain histology or in immunohistochemistry staining by using digital image analysis (IA). We now routinely use IA for quantitative and qualitative analysis of theranostic markers such as human epidermal growth factor 2 (HER2/neu), estrogen and progesterone receptors, and Ki-67. Quantitative IA requires extensive validation, however, and may not always be the best approach, with pancreatic neuroendocrine tumors being one example in which a semiautomated approach may be preferable for patient care...
February 3, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234576/large-and-small-airway-disease-related-to-inflammatory-bowel-disease
#14
REVIEW
Kenrry Chiu, Joanne Lynne Wright
Although airway disease associated with inflammatory bowel disease is uncommon, its involvement may have severe clinical consequences. This article reviews the breadth of pathologic processes that can be expected in the various sizes of airways, and provides a differential diagnosis from other airway diseases that can be found in association with inflammatory bowel disease. It also makes suggestions as to how airway disease can be best differentiated by using appropriate special stains.
March 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234575/predicting-the-behavior-of-perivascular-epithelioid-cell-tumors-of-the-uterine-corpus
#15
REVIEW
Andres Martin Acosta, Brian P Adley
Perivascular epithelioid cell tumors (PEComas) are rare neoplasms that share phenotypic features with angiomyolipomas, clear cell sugar tumors, and lymphangioleiomyomatosis. They presumably represent the neoplastic counterpart of a yet-unidentified perivascular epithelioid cell that expresses smooth muscle and melanocytic immunomarkers. The uterus is the second most common site of origin for perivascular epithelioid cell tumors, after the retroperitoneum. Although most uterine perivascular epithelioid cell tumors are clinically benign and can be cured by a complete surgical excision, there is a subset characterized by both local and distant dissemination...
March 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234574/the-benefits-and-challenges-of-an-interfaced-electronic-health-record-and-laboratory-information-system-effects-on-laboratory-processes
#16
Athena K Petrides, Ida Bixho, Ellen M Goonan, David W Bates, Shimon Shaykevich, Stuart R Lipsitz, Adam B Landman, Milenko J Tanasijevic, Stacy E F Melanson
CONTEXT: - A recent government regulation incentivizes implementation of an electronic health record (EHR) with computerized order entry and structured results display. Many institutions have also chosen to interface their EHR with their laboratory information system (LIS). OBJECTIVE: - To determine the impact of an interfaced EHR-LIS on laboratory processes. DESIGN: - We analyzed several different processes before and after implementation of an interfaced EHR-LIS: the turnaround time, the number of stat specimens received, venipunctures per patient per day, preanalytic errors in phlebotomy, the number of add-on tests using a new electronic process, and the number of wrong test codes ordered...
March 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234573/human-colors-the-rainbow-garden-of-pathology-what-gives-normal-and-pathologic-tissues-their-color
#17
REVIEW
Sergio Piña-Oviedo, Carlos Ortiz-Hidalgo, Alberto G Ayala
CONTEXT: - Colors are important to all living organisms because they are crucial for camouflage and protection, metabolism, sexual behavior, and communication. Human organs obviously have color, but the underlying biologic processes that dictate the specific colors of organs and tissues are not completely understood. A literature search on the determinants of color in human organs yielded scant information. OBJECTIVES: - To address 2 specific questions: (1) why do human organs have color, and (2) what gives normal and pathologic tissues their distinctive colors? DATA SOURCES: - Endogenous colors are the result of complex biochemical reactions that produce biologic pigments: red-brown cytochromes and porphyrins (blood, liver, spleen, kidneys, striated muscle), brown-black melanins (skin, appendages, brain nuclei), dark-brown lipochromes (aging organs), and colors that result from tissue structure (tendons, aponeurosis, muscles)...
March 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234572/genomic-analysis-in-the-practice-of-surgical-neuropathology-the-emory-experience
#18
REVIEW
Stewart G Neill, Debra F Saxe, Michael R Rossi, Matthew J Schniederjan, Daniel J Brat
The evaluation of central nervous system tumors increasingly relies on molecular genetic methods to aid in classification, offer prognostic information, and predict response to therapy. Available assays make it possible to assess genetic losses, amplifications, translocations, mutations, or the expression levels of specific gene transcripts or proteins. Current molecular diagnostics frequently use a panel-based approach and whole genome analysis, and generally rely either on DNA sequencing or on hybridization-based methodologies, such as those used in cytogenomic microarrays...
March 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234571/genotyping-applications-for-transplantation-and-transfusion-management-the-emory-experience
#19
REVIEW
Ross M Fasano, Harold Cliff Sullivan, Robert A Bray, Howard M Gebel, Erin K Meyer, Annie M Winkler, Cassandra D Josephson, Sean R Stowell, Alexander Sandy Duncan, John D Roback
Current genotyping methodologies for transplantation and transfusion management employ multiplex systems that allow for simultaneous detection of multiple HLA antigens, human platelet antigens, and red blood cell (RBC) antigens. The development of high-resolution, molecular HLA typing has led to improved outcomes in unrelated hematopoietic stem cell transplants by better identifying compatible alleles of the HLA-A, B, C, DRB1, and DQB1 antigens. In solid organ transplantation, the combination of high-resolution HLA typing with solid-phase antibody identification has proven of value for highly sensitized patients and has significantly reduced incompatible crossmatches at the time of organ allocation...
March 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28234570/new-developments-in-salivary-gland-pathology-clinically-useful-ancillary-testing-and-new-potentially-targetable-molecular-alterations
#20
REVIEW
Christopher C Griffith, Alessandra C Schmitt, James L Little, Kelly R Magliocca
Accurate diagnosis of salivary gland tumors can be challenging because of the many diagnostic entities, the sometimes extensive morphologic overlap, and the rarity of most tumor types. Ancillary testing is beginning to ameliorate some of these challenges through access to newer immunohistochemical stains and fluorescence in situ hybridization probes, which can limit differential diagnostic considerations in some cases. These ancillary testing strategies are especially useful in small biopsy samples, including aspiration cytology...
March 2017: Archives of Pathology & Laboratory Medicine
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