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Cytology AND molecular

Vladimir M Kushnir, Daniel K Mullady, Koushik Das, Gabriel Lang, Thomas G Hollander, Faris M Murad, Sara A Jackson, Nicole A Toney, Sydney D Finkelstein, Steven A Edmundowicz
BACKGROUND: Routine cytology of biliary stricture brushings obtained during endoscopic retrograde cholangiopancreatography (ERCP) has suboptimal sensitivity for malignancy. We compared the individual and combined ability of cytology, fluorescence in situ hybridization (FISH) analysis and PCR-based mutation profiling (MP) to detect malignancy in standard biliary brushings. METHODS: We performed a prospective study of patients undergoing ERCP using histology or 1 year follow-up to determine patient outcomes...
August 13, 2018: Journal of Clinical Gastroenterology
Sarah Pearlstein, Arash H Lahouti, Elana Opher, Yuri E Nikiforov, Daniel B Kuriloff
Hürthle cell predominant thyroid nodules often confound the diagnostic utility of fine needle aspiration biopsy (FNAB) with cytology often interpreted as a Hürthle cell lesion with an indeterminate risk of malignancy, Bethesda category (BC) III or IV. Molecular diagnostics for Hürthle cell predominant nodules has also been disappointing in further defining the risk of malignancy. We present a case of a slowly enlarging nodule within a goiter initially reported as benign on FNAB, BC II but on subsequent FNAB suspicious for a Hürthle cell neoplasm, BC IV...
2018: Case Reports in Endocrinology
Anna V Kukekova, Jennifer L Johnson, Xueyan Xiang, Shaohong Feng, Shiping Liu, Halie M Rando, Anastasiya V Kharlamova, Yury Herbeck, Natalya A Serdyukova, Zijun Xiong, Violetta Beklemischeva, Klaus-Peter Koepfli, Rimma G Gulevich, Anastasiya V Vladimirova, Jessica P Hekman, Polina L Perelman, Aleksander S Graphodatsky, Stephen J O'Brien, Xu Wang, Andrew G Clark, Gregory M Acland, Lyudmila N Trut, Guojie Zhang
In the version of this Article originally published, there were some errors in the affiliations: Stephen J. O'Brien's affiliations were incorrectly listed as 8,9; they should have been 7,9. Affiliation 3 was incorrectly named the Institute of Cytology and Genetics of the Russian Academy of Sciences; it should have read Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences. Affiliation 4 was incorrectly named the Institute of Molecular and Cell Biology of the Russian Academy of Sciences; it should have read Institute of Molecular and Cellular Biology of the Siberian Branch of the Russian Academy of Sciences...
August 13, 2018: Nature Ecology & Evolution
Suha Rizik, Fahed Hakim, Lea Bentur, Nira Arad-Cohen, Imad Kassis
BACKGROUND: Immunocompromised children are at high risk of rapid deterioration and of developing life-threatening pulmonary infections. Etiologies in this setting are diverse, including those that are infectious and noninfectious, and many etiologies may coexist. Accurate diagnosis is required for the rational use of medications. Fiberoptic bronchoscopy (FOB) with bronchoalveolar lavage (BAL) can identify infectious causes in this population. OBJECTIVES: The aims of this study were to evaluate diagnostic rate, safety, and changes in treatment following FOB with BAL, when applied with advanced laboratory diagnostic techniques...
August 10, 2018: Journal of Pediatric Hematology/oncology
Florian Gautier, Kateřina Eliášová, Jean-Charles Leplé, Zuzana Vondráková, Anne-Marie Lomenech, Claire Le Metté, Philippe Label, Guy Costa, Jean-François Trontin, Caroline Teyssier, Marie-Anne Lelu-Walter
BACKGROUND: To explore poorly understood differences between primary and subsequent somatic embryogenic lines of plants, we induced secondary (2ry ) and tertiary (3ry ) lines from cotyledonary somatic embryos (SEs) of two Douglas-fir genotypes: SD4 and TD17. The 2ry lines exhibited significantly higher embryogenic potential (SE yields) than the 1ry lines initiated from zygotic embryos (SD4, 2155 vs 477; TD17, 240 vs 29 g- 1 f.w.). Moreover, we observed similar differences in yield between 2ry and 3ry lines of SD4 (2400 vs 3921 g- 1 f...
August 10, 2018: BMC Plant Biology
Matthew Evans, Brendan O'Sullivan, Matthew Smith, Frances Hughes, Tina Mullis, Nicola Trim, Philippe Taniere
We make use of a very large dataset of non-small cell lung cancer specimens to examine the molecular epidemiology of EGFR mutations, particularly with respect to rare and compound mutations, and to non-adenocarcinoma histological subtypes. We also demonstrate the feasibility of large-scale EGFR mutation screening using the full range of specimens encountered in routine practice. We retrospectively reviewed 18,920 unselected EGFR mutation results from our centre between July 2009 and October 2016, using Qiagen's therascreen EGFR RGQ PCR Kit...
August 9, 2018: Pathology Oncology Research: POR
John H Yim, Audrey H Choi, Arthur X Li, Hanjun Qin, Sue Chang, Sun-Wing T Tong, Peiguo Chu, Byung-Wook Kim, Daniel Schmolze, Ryan Lew, Yasmine Ibrahim, Valeriy A Poroyko, Sylvana Salvatierra, Alysha Baker, Jinhui Wang, Xiwei Wu, Gerd P Pfeifer, Yuman Fong, Maria A Hahn
PURPOSE: Thyroid cancer is frequently difficult to diagnose due to an overlap of cytological features between malignant and benign nodules. This overlap leads to unnecessary removal of the thyroid in patients without cancer. While providing some improvement over cytopathologic diagnostics, molecular methods frequently fail to provide a correct diagnosis for thyroid nodules. These approaches are based on the difference between cancer and adjacent thyroid tissue and assume that adjacent tissues are the same as benign nodules...
August 9, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Salma Machan, Raúl Córdoba, Nerea Carvajal, Luis Requena, Miguel Ángel Piris, Fabio Facchetti, Socorro María Rodríguez-Pinilla
Peripheral T-cell lymphoma (PTCL), not otherwise specified (NOS) is a diagnosis of exclusion, showing extreme cytological and phenotypic heterogeneity. Skin involvement of PTCL may be primary or secondary. Diagnosis of histiocytosis may be difficult, requiring clinical-pathological correlation. We describe a laryngeal atypical histiocytic lesion (AHL) and a nasal PTCL, NOS with cutaneous involvement in the same patient presenting with peculiar histopathologic and immunophenotypic features. The laryngeal neoplasm showed morphological and immunophenotypic evidence of histiocytic differentiation and does not fit any other category of the WHO classification nor the revised classification of histiocytosis...
August 6, 2018: American Journal of Dermatopathology
Hee Jin Cho, Junfei Zhao, Sang Won Jung, Erik Ladewig, Doo-Sik Kong, Yeon-Lim Suh, Yeri Lee, Donggeon Kim, Sun Hee Ahn, Mykola Bordyuh, Hyun Ju Kang, Jason K Sa, Yun Jee Seo, Sung Tae Kim, Do Hoon Lim, Yun-Sik Dho, Jung-Il Lee, Ho Jun Seol, Jung Won Choi, Woong-Yang Park, Chul-Kee Park, Raul Rabadan, Do-Hyun Nam
Background: Despite extensive efforts on the genomic characterization of gliomas, very few studies have reported the genetic alterations of cerebellar glioblastomas (C-GBM), a rare and lethal disease. Here, we provide a systematic study of C-GBM to better understand the specific genomic features of C-GBM. Methods: We collected a cohort of C-GBM patients and compared patient demographics and tumor pathologies to supratentorial glioblastoma (S-GBM). To uncover the molecular characteristics, we performed DNA- and mRNA-sequencing, and DNA methylation arrays on 19, 6, and 4 C-GBM cases, respectively...
July 31, 2018: Neuro-oncology
Ana Marcella Rivas, Aziza Nassar, Jun Zhang, John D Casler, Ana Maria Chindris, Robert Smallridge, Victor Bernet
OBJECTIVE: Approximately 15 to 30% of thyroid nodules have indeterminate cytology. Many of these nodules are treated surgically, but only 5 to 30% are malignant. Molecular testing can further narrow the risk of malignancy of these nodules. Our objective was to assess the cost effectiveness of ThyroSeq® V2.0 compared to diagnostic thyroidectomy for the evaluation of indeterminate nodules. METHODS: Cytology and histopathology slides of Bethesda category III and IV (suspicious for follicular neoplasia [SFN]) nodules obtained between January 1, 2014 and November 30, 2016 were re-reviewed by 2 endocrine cytopathologists...
August 7, 2018: Endocrine Practice
Qingqing Wu, Xianjun Peng, Mingfeng Yang, Wenpeng Zhang, Frank B Dazzo, Norman Uphoff, Yuxiang Jing, Shihua Shen
The growth-promotion of rice seedling following inoculation with Sinorhizobium meliloti 1021 was a cumulative outcome of elevated expression of genes that function in accelerating cell division and enhancing cell expansion. Various endophytic rhizobacteria promote the growth of cereal crops. To achieve a better understanding of the cellular and molecular bases of beneficial cereal-rhizobia interactions, we performed computer-assisted microscopy and transcriptomic analyses of rice seedling shoots (Oryza sativa) during early stages of endophytic colonization by the plant growth-promoting Sinorhizobium meliloti 1021...
August 6, 2018: Plant Molecular Biology
Tiara Grossi Rocha, Pedro Weslley Rosario, Alexandre Lemos Silva, Maurício Buzelin Nunes, Tulio Henrique Silva, Pedro Henrique Lopes de Oliveira, Maria Regina Calsolari
The objective of this prospective study was to evaluate the ultrasonography classification of the American Thyroid Association (ATA) for predicting malignancy in thyroid nodules >1 cm with indication for fine-needle aspiration (FNA) whose cytology was indeterminate. Additionally, the combination of the ATA classification with Doppler analysis was evaluated. All patients with thyroid nodules >1 cm were eligible. Each nodule was assigned to one of the ATA categories. Exclusively or predominantly intranodular vascularity was considered suspicious...
August 2018: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Jérôme Debus, Pierre Lemaire, Mustafa Alani, Jonathan Farhi, Johann Rose, Vincent Cussac, Sabine Defasque, Nathalie Denizon, Habib Ghnaya, Anne Besançon-Bergelin, Kamel Laribi, Fabienne Pineau-Vincent
We report here a case of lymphoplasmacytic lymphoma with IgA paraproteinemia and a case of concomitant Waldenström macroglobulinemia and monoclonal gammapathy of unknown significance. These rare cases show that the isotype of a monoclonal immunoglobulin does not allow to foresee every time the underlying pathology. Clinical data and medical imaging are essential. From a biological point of view, additional analysis such as immunophenotyping, cytogenetics and molecular biology are required in addition to the cytological features in order to make an accurate differential diagnosis between lymphoid and plasma cell malignancy...
August 1, 2018: Annales de Biologie Clinique
Edoardo Virgilio, Enrico Giarnieri, Maria Rosaria Giovagnoli, Monica Montagnini, Antonella Proietti, Rosaria D'Urso, Paolo Mercantini, Genoveffa Balducci, Marco Cavallini
Differently from other digestive malignancies, gastric cancer (GC) carcinogenesis seems more heterogeneous and unclear. This entails failing in identification of reliable serum tumor markers for screening early GC (EGC) as well as persisting ominous prognosis of this disease. Recently, investigation of human noncoding genome, especially long noncoding molecules (lncRNAs), has provided promising data. As for GC, however, since the current information on GC-specific lncRNAs is still scarce and comes largely from analyses performed on tissue or serum of affected patients, we decided to review the current literature dealing with expression of such molecules in the gastric juice (GJ) of GC patients...
July 27, 2018: Pathology, Research and Practice
Kvetoslava Michalova, Petr Steiner, Reza Alaghehbandan, Kiril Trpkov, Petr Martinek, Petr Grossmann, Delia Perez Montiel, Maris Sperga, Lubomir Straka, Kristyna Prochazkova, Dana Cempirkova, Vladimir Horava, Stela Bulimbasic, Kristyna Pivovarcikova, Ondrej Daum, Ondrej Ondic, Pavla Rotterova, Michal Michal, Milan Hora, Ondrej Hes
BACKGROUND: We present a series of papillary renal cell carcinomas (PRCC) reminiscent of so-called "oncocytic variant of papillary renal cell carcinoma" (OPRCC), included in the 2016 WHO classification as a potential type 3 PRCC. OPRCC is a poorly understood entity, cytologically characterized by oncocytic cells with non-overlapping low grade nuclei. OPRCC is not genotypically distinct and the studies concerning this variant have shown an inconsistent genetic profile. The tumors presented herein demonstrated predominantly papillary/tubulopapillary architecture and differed from OPRCC by pseudostratification and grade 2-3 nuclei (Fuhrman/ISUP)...
August 2018: Annals of Diagnostic Pathology
Ciara Brown, William Mangano, Stephanie Thompson, Bryan Richmond
The atypia of uncertain significance/follicular lesion of uncertain significance (AUS/FLUS) category of the Bethesda system for reporting thyroid cytopathology for fine needle aspiration biopsy (FNAB) has a predicted incidence of malignancy from 5 to 15 per cent. The literature has reported that suspicious ultrasound (SUS) characteristics can assist in predicting malignancy in thyroid biopsies. Some research suggests further subdivision of AUS/FLUS into nuclear atypia predominant or follicular predominant. We hypothesized that the rate of malignancy would be higher in AUS/FLUS biopsies with SUS characteristics and in the AUS/FLUS subset classified as nuclear atypia predominant...
July 1, 2018: American Surgeon
Suzanne M Garland, Wayne Dimech, Peter Collignon, Louise Cooley, Graeme R Nimmo, David W Smith, Rob Baird, William Rawlinson, Anna-Maria Costa, Geoff Higgins
Along with the reduction in human papillomavirus (HPV) infection and cervical abnormalities as a result of the successful HPV vaccination program, Australia is adopting a new screening strategy. This involves a new paradigm moving from cervical cytological screening to molecular nucleic acid technology (NAT), using HPV DNA assays as primary screening for cervical cancer prevention. These assays must strike a balance between sufficient clinical sensitivity to detect or predict high-grade cervical lesions, the precursor to cervical cancer, without being too sensitive and detecting transient infection not destined for disease...
July 30, 2018: Journal of Pathology. Clinical Research
Neha Gupta, Ryan Brenkert, Joong Won Lee, Melissa Klein, Silvia Spitzer, Karen Chau, Kasturi Das
BACKGROUND: Next generation sequencing (NGS) to detect actionable genetic abnormalities is standard of care in advanced stage lung adenocarcinoma. Many studies have shown that the molecular results obtained from fine needle aspiration cytology material are comparable to those obtained from formalin fixed tissue samples. We undertook this study to validate DNA extraction from cytology material for molecular studies and to find any correlation between DNA yield, pattern of tumor cells and tumor fraction...
July 28, 2018: Cytopathology: Official Journal of the British Society for Clinical Cytology
Haggi Mazeh, Tova Deutch, Adi Karas, Kimberly A Bogardus, Ido Mizrahi, Devorah Gur-Wahnon, Iddo Z Ben-Dov
Background: Fine needle aspiration biopsy (FNAB) is the gold-standard procedure for diagnosing malignant thyroid nodules. Indeterminate cytology is identified in 10% to 40% of cases, and molecular testing may guide management in this setting. Current commercial options are expensive, and are either sensitive or specific. The aim of this study was to utilize next-generation sequencing (NGS) technology to identify informative diversities in the miRNA expression profile of benign versus malignant thyroid nodules...
August 2018: Cancer Epidemiology, Biomarkers & Prevention
Xiaofei Liang, Jeffrey A Rollins
Among necrotrophic fungi, Sclerotinia sclerotiorum is remarkable for its extremely broad host range and for its aggressive host tissue colonization. With full genome sequencing, transcriptomic analyses and the increasing pace of functional gene characterization, the factors underlying the basis of this broad host range necrotrophic pathogenesis are now being elucidated at a greater pace. Among these, genes have been characterized that are required for infection via compound appressoria in addition to genes associated with colonization that regulate oxalic acid (OA) production and OA catabolism...
July 26, 2018: Phytopathology
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