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https://www.readbyqxmd.com/read/29220288/contemporary-sarcoma-diagnosis-genetics-and-genomics
#1
Inga-Marie Schaefer, Gregory M Cote, Jason L Hornick
Sarcomas include diverse mesenchymal neoplasms with widely varied prognosis, clinical behavior, and treatment. Owing to their rarity and histologic overlap, accurate diagnosis of sarcomas can be challenging. Our approach has evolved dramatically in the past few decades, where novel insights into the molecular pathogenetic basis for sarcomas has dramatically (re)shaped contemporary diagnosis, building on a largely morphology- and clinical presentation-based strategy. Examples include the introduction of novel immunohistochemical markers that serve as surrogates for molecular genetic alterations and identification of characteristic molecular alterations...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29190760/simulated-ocean-acidification-reveals-winners-and-losers-in-coastal-phytoplankton
#2
Lennart T Bach, Santiago Alvarez-Fernandez, Thomas Hornick, Annegret Stuhr, Ulf Riebesell
The oceans absorb ~25% of the annual anthropogenic CO2 emissions. This causes a shift in the marine carbonate chemistry termed ocean acidification (OA). OA is expected to influence metabolic processes in phytoplankton species but it is unclear how the combination of individual physiological changes alters the structure of entire phytoplankton communities. To investigate this, we deployed ten pelagic mesocosms (volume ~50 m3) for 113 days at the west coast of Sweden and simulated OA (pCO2 = 760 μatm) in five of them while the other five served as controls (380 μatm)...
2017: PloS One
https://www.readbyqxmd.com/read/29180251/renal-cell-carcinoma-with-angioleiomyoma-like-stroma-and-clear-cell-papillary-renal-cell-carcinoma-exploring-sdhb-protein-immunohistochemistry-and-the-relationship-to-tuberous-sclerosis-complex
#3
Sean R Williamson, Jason L Hornick, John N Eble, Nilesh S Gupta, Craig G Rogers, Lawrence True, David J Grignon, Liang Cheng
Renal cell carcinoma (RCC) with angioleiomyoma-like stroma appears to be molecularly distinct from clear cell RCC; however, its relationship to clear cell papillary RCC remains debated. Recent studies have found that similar tumors sometimes occur in patients with tuberous sclerosis complex (TSC), of which one study found unexpectedly negative succinate dehydrogenase (SDH) B immunostaining. We evaluated immunohistochemistry for SDHB in 12 apparently sporadic RCCs with angioleiomyoma-like stroma and correlated with clinical information for stigmata of TSC...
November 24, 2017: Human Pathology
https://www.readbyqxmd.com/read/29156750/somatic-mutations-in-cdh1-and-ctnnb1-in-primary-carcinomas-at-13-anatomic-sites
#4
Evan L Busch, Jason L Hornick, Renato Umeton, Adem Albayrak, Neal I Lindeman, Laura E MacConaill, Elizabeth P Garcia, Matthew Ducar, Timothy R Rebbeck
Metastases are involved in most cancer deaths. Evidence has suggested that cancer cell detachment from primary tumors might occur largely via the mechanism of epithelial-mesenchymal transition (EMT) activated by epigenetic events, but data addressing other possible triggers of detachment, particularly genetic mutations, have been limited. Using the Profile study of cancer genomics at Dana-Farber Cancer Institute, we examined somatic mutations in the EMT genes CDH1 in 5,106 primary carcinomas and CTNNB1 in 7,578 primary carcinomas across 13 anatomic sites: urinary bladder, breast, colon/rectum, endometrium, esophagus, kidney, lung, ovary, pancreas, prostate, skin (non-melanoma), stomach, and thyroid...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29131068/maternal-cannabinoid-use-alters-cannabinoid-cb1-and-endothelin-etb-receptor-expression-in-the-brains-of-dams-but-not-their-offspring
#5
Aarti Amlani, Mary G Hornick, Kevin Cooper, Preetha Prazad, Ramona Donovan, Anil Gulati
According to the 2015 National Survey on Drug Use and Health, cannabis (marijuana) is the most commonly used recreational drug in the US. Among pregnant women aged 14-55 years, 3.4% were cannabis users. Presently, little is known about the neurodevelopmental effect of cannabis use during pregnancy and/or nursing on neonates. Endothelin (ET) is essential for normal development of the central nervous system (CNS). Decreases in ETB receptor expression correlate with a decline in nerve growth factor (NGF) and an increase in vascular endothelial growth factor (VEGF) in postnatal brain...
November 4, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/29106463/correspondence
#6
Isaac H Solomon, Jason L Hornick, Alvaro C Laga
No abstract text is available yet for this article.
November 2, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29098284/association-of-alterations-in-main-driver-genes-with-outcomes-of-patients-with-resected-pancreatic-ductal-adenocarcinoma
#7
Zhi Rong Qian, Douglas A Rubinson, Jonathan A Nowak, Vicente Morales-Oyarvide, Richard F Dunne, Margaret M Kozak, Marisa W Welch, Lauren K Brais, Annacarolina Da Silva, Tingting Li, Wanwan Li, Atsuhiro Masuda, Juhong Yang, Yan Shi, Mancang Gu, Yohei Masugi, Justin Bui, Caitlin L Zellers, Chen Yuan, Ana Babic, Natalia Khalaf, Andrew Aguirre, Kimmie Ng, Rebecca A Miksad, Andrea J Bullock, Daniel T Chang, Jennifer F Tseng, Thomas E Clancy, David C Linehan, Jennifer J Findeis-Hosey, Leona A Doyle, Aaron R Thorner, Matthew Ducar, Bruce Wollison, Angelica Laing, William C Hahn, Matthew Meyerson, Charles S Fuchs, Shuji Ogino, Jason L Hornick, Aram F Hezel, Albert C Koong, Brian M Wolpin
Importance: Although patients with resected pancreatic adenocarcinoma are at high risk for disease recurrence, few biomarkers are available to inform patient outcomes. Objective: To evaluate the alterations of the 4 main driver genes in pancreatic adenocarcinoma and patient outcomes after cancer resection. Design, Setting, and Participants: This study analyzed protein expression and DNA alterations for the KRAS, CDKN2A, SMAD4, and TP53 genes by immunohistochemistry and next-generation sequencing in formalin-fixed, paraffin-embedded tumors in 356 patients with resected pancreatic adenocarcinoma who were treated at the Dana-Farber/Brigham and Women's Cancer Center (October 26, 2002, to May 21, 2012), University of Rochester Medical Center (March 1, 2006, to November 1, 2013), or Stanford Cancer Institute (September 26, 1995, to May 22, 2013)...
November 2, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/29048279/weather-dependent-risk-for-legionnaires-disease-united-states
#8
Jacob E Simmering, Linnea A Polgreen, Douglas B Hornick, Daniel K Sewell, Philip M Polgreen
Using the Nationwide Inpatient Sample and US weather data, we estimated the probability of community-acquired pneumonia (CAP) being diagnosed as Legionnaires' disease (LD). LD risk increases when weather is warm and humid. With warm weather, we found a dose-response relationship between relative humidity and the odds for LD. When the mean temperature was 60°-80°F with high humidity (>80.0%), the odds for CAP being diagnosed with LD were 3.1 times higher than with lower levels of humidity (<50.0%). Thus, in some regions (e...
November 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29023914/melanocytic-naevi-with-perineurial-differentiation-a-distinctive-variant-of-neurotised-naevi-and-a-diagnostic-pitfall-with-desmoplastic-melanoma
#9
Ingrid Ferreira, Peter Kind, Ivo Van Den Berghe, Lucy Melly, Felix Offner, Jason L Hornick, Thomas Brenn
AIMS: Spindle cell differentiation is not an uncommon finding in common acquired naevi and may represent a form of neurotisation with Schwannian differentiation of melanocytes. Perineurial differentiation in this context appears to be distinctly rare and is only poorly documented in the literature. METHODS AND RESULTS: We have identified six melanocytic tumours showing spindle cell morphology and perineurial differentiation from routine and referral material. Clinical data and follow-up were obtained, and the histological and immunohistochemical features were analysed...
October 11, 2017: Histopathology
https://www.readbyqxmd.com/read/28982112/lymph-node-metastases-in-resected-pancreatic-ductal-adenocarcinoma-predictors-of-disease-recurrence-and-survival
#10
Vicente Morales-Oyarvide, Douglas A Rubinson, Richard F Dunne, Margaret M Kozak, Justin L Bui, Chen Yuan, Zhi Rong Qian, Ana Babic, Annacarolina Da Silva, Jonathan A Nowak, Natalia Khalaf, Lauren K Brais, Marisa W Welch, Caitlin L Zellers, Kimmie Ng, Daniel T Chang, Rebecca A Miksad, Andrea J Bullock, Jennifer F Tseng, Richard S Swanson, Thomas E Clancy, David C Linehan, Jennifer J Findeis-Hosey, Leona A Doyle, Jason L Hornick, Shuji Ogino, Charles S Fuchs, Aram F Hezel, Albert C Koong, Brian M Wolpin
BACKGROUND: Few studies have simultaneously assessed the prognostic value of the multiple classification systems for lymph node (LN) metastases in resected pancreatic ductal adenocarcinoma (PDAC). METHODS: In 600 patients with resected PDAC, we examined the association of LN parameters (AJCC 7th and 8th editions, LN ratio (LNR), and log odds of metastatic LN (LODDS)) with pattern of recurrence and patient survival using logistic regression and Cox proportional hazards regression, respectively...
October 5, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28898989/role-of-histone-h3k27-trimethylation-loss-as-a-marker-for-malignant-peripheral-nerve-sheath-tumor-in-fine-needle-aspiration-and-small-biopsy-specimens
#11
Jeffrey K Mito, Xiaohua Qian, Leona A Doyle, Jason L Hornick, Vickie Y Jo
Objectives: Accurate diagnosis of malignant peripheral nerve sheath tumor (MPNST) is often challenging on fine-needle aspiration (FNA) or core needle biopsy. Recurrent mutations in EED and SUZ12, which encode subunits of polycomb repressive complex 2 (PRC2), have been identified in 70% to 92% of MPNSTs; PRC2 inactivation leads to loss of trimethylation of lysine 27 of histone H3 (H3K27me3). We evaluated the utility of H3K27me3 immunohistochemistry for distinguishing MPNST from its cytomorphologic mimics...
August 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28884404/palatability-of-nine-fodders-species-used-by-guinea-pigs-cavia-porcellus
#12
Florence Mujinga Kampemba, Innocent Muamba Tshibangu, Nathan Utshudienyema Nyongombe, Jean-Luc Hornick
Nine fodders commonly offered to the guinea pigs by the breeders in Lubumbashi (Democratic Republic of Congo) were compared for chemical composition and for both daily dry matter intake and palatability indices by using 13 three-month-old guinea pigs. Four different plant families were provided to each guinea pig, and each animal was exposed to all the experimental diets studied for 8 consecutive days. The fodder species were three grasses: Trypsacum laxum, Panicum maximum, and Pennisetum purpureum; three trees or bushes Moringa oleifera, Leucaena leucocephala, and Bauhinia variegata; and three flowering plants Bidens oligoflora, Bidens pilosa, and Commelina diffusa...
December 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/28795999/the-utility-of-immunohistochemistry-in-mycobacterial-infection-a-proposal-for-multimodality-testing
#13
Isaac H Solomon, Melanie E Johncilla, Jason L Hornick, Danny A Milner
Mycobacterium species are slow growing bacteria that cause significant morbidity and mortality worldwide. Because of the relative rarity of mycobacterial infections, potential for detection of nonpathogenic environmental contaminants, and substantial costs associated with molecular diagnostics, effective screening methods are needed to identify samples most suitable for molecular testing. While anatomic pathology specimens can be utilized to identify characteristic histologic inflammatory patterns and to directly visualize mycobacteria through histochemical (acid fast bacilli [AFB]) stains, the utility of immunohistochemistry (IHC) in this setting is unknown...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28752840/genetic-evaluation-of-juvenile-xanthogranuloma-genomic-abnormalities-are-uncommon-in-solitary-lesions-advanced-cases-may-show-more-complexity
#14
Christian N Paxton, Dennis P O'Malley, Andrew M Bellizzi, Deema Alkapalan, Yuri Fedoriw, Jason L Hornick, Sherrie L Perkins, Sarah T South, Erica F Andersen
Juvenile xanthogranuloma is a rare histiocytic proliferation primarily affecting infants and young children, characterized by aberrant infiltration of histiocyte-derived cells in the skin, soft tissues and more rarely, visceral organs. Juvenile xanthogranuloma is generally considered to be a benign disorder; most lesions are solitary cutaneous nodules that resolve spontaneously without treatment. However, cases with extracutaneous involvement, multiple lesions, and/or systemic disease often require aggressive therapy...
September 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28714765/comparison-of-estrogen-and-progesterone-receptor-antibody-reagents-using-proficiency-testing-data
#15
COMPARATIVE STUDY
Megan L Troxell, Thomas Long, Jason L Hornick, Abiy B Ambaye, Kristin C Jensen
CONTEXT: - Immunohistochemical analysis of estrogen receptor (ER) and progesterone receptor (PgR) expression in breast cancer is the current standard of care and directly determines therapy. In 2010 the American Society of Clinical Oncology and the College of American Pathologists (ASCO/CAP) published guidelines for ER and PgR predictive testing, encompassing preanalytic, analytic, postanalytic factors; antibody validation; and proficiency testing. OBJECTIVE: - To compare the performance of different antibody reagents for ER and PgR immunohistochemical analysis by using CAP proficiency testing data...
October 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28662997/next-generation-immunohistochemistry-emerging-substitutes-to-genetic-testing
#16
REVIEW
Juliana Andrici, Anthony J Gill, Jason L Hornick
The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes...
June 27, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28643791/ewsr1-fusion-proteins-mediate-pax7-expression-in-ewing-sarcoma
#17
Gregory W Charville, Wei-Lien Wang, Davis R Ingram, Angshumoy Roy, Dafydd Thomas, Rajiv M Patel, Jason L Hornick, Matt van de Rijn, Alexander J Lazar
PAX7 is a paired-box transcription factor that is required for the developmental specification of adult skeletal muscle progenitors in mice. We previously demonstrated PAX7 expression as a marker of skeletal muscle differentiation in rhabdomyosarcoma. Here, using analyses of published whole-genome gene expression microarray data, we identify PAX7 as a gene with significantly increased expression in Ewing sarcoma in comparison to CIC-DUX4 round cell sarcoma. Analysis of PAX7 in a large cohort of 103 Ewing sarcoma cases by immunohistochemistry revealed expression in 99...
September 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28640941/phox2b-reliably-distinguishes-neuroblastoma-among-small-round-blue-cell-tumours
#18
Yin P Hung, John P Lee, Andrew M Bellizzi, Jason L Hornick
AIMS: Neuroblastoma shows considerable histological overlap with other small round blue cell tumours. PHOX2B, a transcription factor that is essential for autonomic nervous system development, has been reported as an immunohistochemical marker for neuroblastoma. The aim of this study was to validate the specificity and diagnostic utility of PHOX2B for peripheral neuroblastic tumours. METHODS AND RESULTS: We evaluated 240 cases (133 in whole-tissue sections; 107 in tissue microarrays), including 76 peripheral neuroblastic tumours (median age 2 years; including four adults) and 164 other tumours: 44 Wilms tumours; 20 Ewing sarcomas; 10 each of CIC-rearranged round cell sarcomas, poorly differentiated synovial sarcomas, lymphoblastic lymphomas, alveolar rhabdomyosarcomas, embryonal rhabdomyosarcomas, mesenchymal chondrosarcomas, Merkel cell carcinomas, olfactory neuroblastomas, and melanomas; and five each of NUT midline carcinomas and desmoplastic small round cell tumours...
June 22, 2017: Histopathology
https://www.readbyqxmd.com/read/28622183/cyclin-d1-is-expressed-in-neoplastic-cells-of-langerhans-cell-histiocytosis-but-not-reactive-langerhans-cell-proliferations
#19
Vignesh Shanmugam, Jeffrey W Craig, Jason L Hornick, Elizabeth A Morgan, Geraldine S Pinkus, Olga Pozdnyakova
Langerhans cell histiocytosis (LCH) is characterized by frequent activating mutations involving the mitogen-activated protein kinase (MAPK) pathway. Therefore, downstream markers of MAPK pathway activation such as cyclin D1 may be useful as novel diagnostic markers of neoplasia in LCH. The goal of this study was to investigate cyclin D1 expression in LCH and reactive Langerhans cell accumulations using immunohistochemistry on archival tissue. All LCH cases tested (39/39) showed cyclin D1 expression in CD1a/Langerin cells...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28621320/genomic-analysis-of-follicular-dendritic-cell-sarcoma-by-molecular-inversion-probe-array-reveals-tumor-suppressor-driven-biology
#20
Erica F Andersen, Christian N Paxton, Dennis P O'Malley, Abner Louissaint, Jason L Hornick, Gabriel K Griffin, Yuri Fedoriw, Young S Kim, Lawrence M Weiss, Sherrie L Perkins, Sarah T South
Follicular dendritic cell sarcoma is a rare malignant neoplasm of dendritic cell origin that is currently poorly characterized by genetic studies. To investigate whether recurrent genomic alterations may underlie the biology of follicular dendritic cell sarcoma and to identify potential contributory regions and genes, molecular inversion probe array analysis was performed on 14 independent formalin-fixed, paraffin-embedded samples. Abnormal genomic profiles were observed in 11 out of 14 (79%) cases. The majority showed extensive genomic complexity that was predominantly represented by hemizygous losses affecting multiple chromosomes...
September 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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