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Pathology, Research and Practice

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https://www.readbyqxmd.com/read/28049580/epigenetic-regulation-on-the-gene-expression-signature-in-esophagus-adenocarcinoma
#1
Ting Xi, Guizhi Zhang
BACKGROUND: Understanding the molecular mechanisms represents an important step in the development of diagnostic and therapeutic measures of esophagus adenocarcinoma (NOS). The objective of this study is to identify the epigenetic regulation on gene expression in NOS, shedding light on the molecular mechanisms of NOS. METHODS: In this study, 78 patients with NOS were included and the data of mRNA, miRNA and DNA methylation of were downloaded from The Cancer Genome Atlas (TCGA)...
December 19, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28040329/microrna-194-regulates-keratinocyte-proliferation-and-differentiation-by-targeting-grainyhead-like-2-in-psoriasis
#2
Xiaoyun Yu, Jingang An, Yunhui Hua, Zihai Li, Ning Yan, Weixin Fan, Chuan Su
MicroRNAs (miRNAs) are currently emerged as important regulators in psoriasis. Psoriasis is characterized by hyperproliferation and impaired differentiation of keratinocytes in skin lesions. miR-194 is a well-known regulator of cell proliferation and differentiation. However, the role of miR-194 in psoriasis pathogenesis remains unclear. In this study we aimed to investigate the role of miR-194 in keratinocyte hyperproliferation and differentiation. We found that miR-194 was significantly downregulated in psoriasis lesional skin...
December 19, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28062084/a-t-4-19-pediatric-undifferentiated-sarcoma-with-a-novel-variant-of-the-cic-dux4-fusion-transcript
#3
Lenka Krskova, Eva Stejskalova, Edita Kabickova, Marcela Mrhalova, Roman Kodet
We report cytogenetic and molecular genetic analysis of a pediatric tumor positive for the CIC-DUX4 fusion. The tumor belongs to a rare, diagnostically challenging subgroup of undifferentiated small round cell sarcomas. A balanced t(4;19)(q35;q13.1-2) was identified by G-banding, as a sole cytogenetic finding. The translocation was also identified by the M-FISH technique. After RT-PCR, the tumor sample was positive for the CIC-DUX4 fusion. The PCR product contains a novel, so far unreported variant of the CIC-DUX4 fusion transcript, with a fusion of the exon 20 from the CIC gene and the exon 1 from the DUX4 gene...
December 16, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28049581/validation-of-a-next-generation-sequencing-panel-for-detection-of-hotspot-cancer-mutations-in-a-clinical-laboratory
#4
Reza Shahsiah, Jenefer DeKoning, Saeed Samie, Seyed Ziaeddin Latifzadeh, Zahra Mehdizadeh Kashi
Recent advances in sequencing technologies have enabled us to scrutinize the versatile underlying mechanisms of cancer more precisely. However, adopting these new sophisticated technologies is challenging for clinical labs as it involves complex workflows, and requires validation for diagnostic purposes. The aim of this work is towards the analytical validation of a next generation sequencing (NGS) panel for cancer hotspot mutation analysis. Characterized formalin-fixed paraffin-embedded (FFPE) samples including biopsy specimens and cell-lines were examined by NGS methods utilizing the Ion Torrent™ Oncomine™ Focus DNA Assay and the PGM™ platform...
December 16, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27919577/primary-cic-dux4-round-cell-sarcoma-of-the-kidney-a-treatment-refractory-tumor-with-poor-outcome
#5
Sébastien Bergerat, Philippe Barthelemy, Pascal Mouracade, Hervé Lang, Christian Saussine, Véronique Lindner, Didier Jacqmin
The CIC-DUX4 sarcoma is a subset of the undifferentiated small round cell sarcoma family, presently recognized as a new clinicopathological entity. It is a rare and highly aggressive tumor usually arising in the soft parts of the limbs and the trunk. Only a very few cases of primitive visceral CIC-DUX4 have been hitherto described. We report the case of a 29 year-old male patient with a primary CIC-DUX4 sarcoma of the kidney with lung metastasis. The outcome of the disease was rapidly unfavorable. Despite radical nephrectomy, the patient experienced an early local retroperitoneal recurrence associated with lung and liver metastases...
November 24, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27894621/glomerulocystic-kidney-presenting-as-a-unilateral-kidney-mass-in-a-newborn-with-tuberous-sclerosis-report-of-a-case-and-review-of-the-literature
#6
Miguel Rito, Rafael Adame Cabrera
Glomerular cysts are defined as a 2-3 times dilation of Bowman spaces and their presence in at least 5% of the glomeruli defines the kidneys as glomerulocystic (GCK). The association between cystic kidney disease and the tuberous sclerosis complex (TSC) is well known, but its presentation as a unilateral mass with glomerulocystic pattern is rare. We describe a case of an infant with a prenatal diagnosis of TSC, with a renal mass that was believed to be a renal tumor. A four-month-old infant with maternal history of TSC and prenatally diagnosed subependymal nodules and a right renal mass underwent nephrectomy...
November 18, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27894620/clinical-implications-of-a-rare-renal-entity-pleomorphic-hyalinizing-angiectatic-tumor-phat
#7
Cristina Scalici Gesolfo, Vincenzo Serretta, Fabrizio Di Maida, Giulio Giannone, Elisabetta Barresi, Vito Franco, Rodolfo Montironi
Pleomorphic Hyalinizing Angiectatic Tumor (PHAT) is a rare benign lesion characterized by slow growth, infiltrative behavior and high rate of local recurrences. Only one case has been described in retroperitoneum, at renal hilum, but not involving pelvis or parenchyma. Here we present the first case of PHAT arising in the renal parenchyma. A nodular lesion in right kidney lower pole was diagnosed to a 61 year old woman. The patient underwent right nephrectomy. Microscopically, the lesion showed solid and pseudo-cystic components with hemorrhagic areas characterized by aggregates of ectatic blood vessels...
November 17, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28027815/long-telomere-length-predicts-poor-clinical-outcome-in-esophageal-cancer-patients
#8
Yanyan Lv, Yong Zhang, Xinru Li, Xiaojuan Ren, Meichen Wang, Sijia Tian, Peng Hou, Bingyin Shi, Qi Yang
BACKGROUND: Abnormal telomere length is widely reported in various human cancers, and it is considered to be an important hallmark of cancer. However, there is remarkably little consensus on the value of telomere length in the prognostic evaluation of esophageal cancers. Here, we attempted to determine the association of variable telomere length with clinical outcome of esophageal cancer patients. MATERIALS AND METHODS: Using real-time quantitative PCR, we examined relative telomere lengths (RTL) in a cohort of esophageal cancer and normal esophageal tissues, and statistically investigated the association between RTL and clinical outcomes of esophageal cancer patients...
November 16, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27894618/primary-pulmonary-pleural-melanoma-in-a-13-year-old-presenting-as-pleural-effusion
#9
Nick Baniak, Mark Podberezin, Selliah C Kanthan, Rani Kanthan
Melanoma in children, adolescents, and young adults is uncommon and reported almost exclusively as cutaneous melanoma. Melanoma presenting as a pleural effusion is very rare in adults and not reported in the pediatric population. Additionally, primary pulmonary melanoma is overall very rare and undocumented in pediatric patients. Furthermore, the distinction between a primary pulmonary/pleural melanoma versus a regressed cutaneous melanoma with pulmonary/pleural metastases remains extremely challenging. We discuss a case of a previously healthy 13-year-old girl that presented with a left-sided pleural effusion...
November 16, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28038793/histologic-characteristics-of-thymic-adenocarcinomas-clinicopathologic-study-of-a-nine-case-series-and-a-review-of-the-literature
#10
Ah-Young Kwon, Joungho Han, Jinah Chu, Yong Soo Choi, Byeong-Ho Jeong, Myung-Ju Ahn, Yong Chan Ahn
Primary thymic adenocarcinoma is an extraordinarily rare malignancy; only 49 cases have been reported in the medical literature to date. Because of its rarity, clinical and pathologic characteristics of thymic adenocarcinoma are unclear. We present nine cases of primary thymic adenocarcinoma and discuss clinicopathologic findings in the context of the existing literature. Two-hundred twenty-six thymic carcinoma cases were diagnosed at Samsung Medical Center in Korea, from January, 2001 to July, 2016. Nine of these 226 cases were primary thymic adenocarcinomas...
November 15, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28040328/survival-and-prognostic-factors-in-chinese-patients-with-osteosarcoma-13-year-experience-in-365-patients-treated-at-a-single-institution
#11
Wei Wang, Jing Yang, Yun Wang, Dianjun Wang, Gang Han, Jinpeng Jia, Meng Xu, Wenzhi Bi
This study was designed to retrospectively analyze the survival and prognostic factors in Chinese osteosarcoma patients received neoadjuvant chemotherapy or/and surgery in a single institution. A total of 365 patients with pathological proved osteosarcoma undergoing neoadjuvant chemotherapy or/and surgery in a single institution between December 1999 and December 2012 were retrospectively analyzed for the demographic, tumor-related, and treatment-related variables, prognostic factors for survival rate and chemotherapy response...
November 13, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28040330/quality-assurance-of-anatomic-pathology-diagnoses-comparison-of-alternate-approaches
#12
Lester J Layfield, Shellaine R Frazier
OBJECTIVES: Traditionally, a 10% review has been the basis for quality assurance programs in anatomic pathology. The effectiveness of such reviews has been questioned and alternative methodologies suggested. The study investigates the error detection rates for four quality assurance protocols. METHODS: The detection rate for diagnostic errors in surgical pathology was calculated over a one year period using four different review procedures comprising: random 10% review, correlation of internal and external diagnoses following solicited external expert opinion, correlation of internal diagnoses with outside diagnoses in cases sent for review at a second institution treating the patient along with a focused review of dermatopathology cases over a 3 month period...
November 11, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27913051/erg-expression-in-multiple-myeloma-a-potential-diagnostic-pitfall
#13
Juliana Knief, Katharina Reddemann, Jan Gliemroth, Swantje Brede, Tobias Bartscht, Christoph Thorns
INTRODUCTION: ERG expression has been described as a frequent event in prostate cancer indicating poor prognosis and promoting oncogenesis. It has also been demonstrated in Ewing's sarcoma, acute myeloid leukemia and acute T-lymphoblastic leukemia but could not be found in other epithelial tumors, Hodgkin's or Non-Hodgkin's lymphoma. We aimed to analyze ERG expression in multiple myeloma, following an index case of a patient with metastases of unknown origin in the spine strongly expressing ERG, which were thought to be of prostatic origin but turned out to be plasmacytic lesions...
November 3, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27931799/oncocytic-papillary-renal-cell-carcinoma-a-clinicopathological-and-genetic-analysis-and-indolent-clinical-course-in-14-cases
#14
Guiyan Han, Wenjuan Yu, Jing Chu, Yan Liu, Yanxia Jiang, Yujun Li, Wei Zhang
A sort of PRCC with distinct eosinophilic cytoplasm named Oncocytic Papillary Renal Cell Carcinoma (OPRCC) has been increasingly attracting the attention of researchers recently. However, owing to the rarity of OPRCC, the clinicopathological and genetic features of the tumor have still not been well elucidated and whether it should be regarded as an independent subtype of PRCC remains controversial. Herein, a cohort of 14 OPRCCs was studied with the aim of revealing the distinct clinicopathological features, facilitating the classification and correct diagnosis of OPRCC...
January 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27931798/differential-expression-of-low-density-lipoprotein-receptor-related-protein-1-lrp-1-and-matrix-metalloproteinase-9-mmp-9-in-prostate-gland-from-normal-to-malignant-lesions
#15
Mónica B Gilardoni, María M Remedi, Mabel Oviedo, Tristán Dellavedova, Juan P Sarría, Laura Racca, Mariana Dominguez, Claudia G Pellizas, Ana C Donadio
BACKGROUND: Metalloproteinases (MMPs) are relevant modulators of inflammation, tumor microenvironment, cancer invasion and metastasis. They can be regulated by the Low density lipoprotein Receptor-related Protein 1 (LRP-1), a receptor reported to mediate the clearance of lipoproteins, extracellular matrix (ECM) macromolecules and proteinases. The aim of this study was to evaluate the expression of LRP-1, MMP-2 and MMP-9 across various grades of prostatic diseases as benign prostatic hyperplasia (BPH), BPH plus prostatitis (BPH+P), high grade prostatic intraepithelial neoplasia (HGPIN) and prostate cancer (PCa)...
January 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27916297/protective-effects-of-thymoquinone-and-avenanthramides-on-titanium-dioxide-nanoparticles-induced-toxicity-in-sprague-dawley-rats
#16
Khaled M A Hassanein, Yasmin O El-Amir
The protective effect of thymoquinone (TQ), the major active ingredient of Nigella sativa seeds, and avenanthramides (AVA) enriched extract of oats on titanium dioxide naonparticles (TiO2 NPs) induced toxicity and oxidative stress in Sprague-Dawley (SD) rats was investigated. Sixty rats were divided into 6 equal groups. The first, second, third, fourth and fifth groups received TiO2 NPs, TiO2 NPs and TQ, TiO2 NPs and AVA, TQ only, or AVA only for 6 weeks. The sixth group served as the control. Exposure to TiO2 NPs resulted in increased liver enzyme markers, oxidative stress indices, tumor necrosis factor alpha (TNF-α) and DNA damage...
January 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27914769/clinicopathological-and-molecular-characteristics-of-ku-70-80-expression-in-nigerian-breast-cancer-and-its-potential-therapeutic-implications
#17
Ayodeji O J Agboola, Henry O Ebili, Victoria O Iyawe, Adekunbiola A F Banjo, Babatunde A Salami, Emad A Rakha, Chrstopher C Nolan, Ian O Ellis, Andrew R Green
Ku 70/80 is a regulator of the Non-Homologous End Joining (NHEJ) roles in clinicopathological features, and has prognostic significance in breast cancer (BC) in Caucasian populations. However, its significance in the Nigerian BC population, which is characterized by a higher rate of the triple-negative and basal phenotype, p53 mutation rate and BRCA1 deficiency, still needs to be investigated. We hypothesize that Ku70/80 expression shows adverse expression in Nigerian BC and, furthermore, that it is likely to have a therapeutic implication for Black BC management...
January 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27914768/selective-staining-of-gastric-biopsies-for-h-pylori-does-not-affect-detection-rates-or-turnaround-time-and-improves-cost-compared-to-reflexive-staining
#18
Lauren Decker, Joshua Keith Routh, Jessica Sara Snider, Joshua Anspach Hanson
AIMS: To evaluate how reflexive versus selective H. pylori stains affect detection rates, turnaround time (TAT), and cost savings in a real life practice environment following an institutional policy change. METHODS: The aforementioned parameters were evaluated in all cases in the year preceding and the year following an institutional policy change from reflexive to selective staining. RESULTS: 1497 patients comprised the reflexive stain (RS) group of which 228 (15...
January 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27914767/smad-4-gene-expression-in-human-colorectal-cancer-comparison-with-some-clinical-and-pathological-parameters
#19
Agnieszka Wosiak, Damian Wodziński, Marcin Kolasa, Aleksandra Sałagacka-Kubiak, Ewa Balcerczak
The aim of this study was to evaluate the expression of SMAD-4 gene in cases of colorectal cancer and to link the obtained data with the development of this disease. SMAD-4 gene is responsible for the control of many important cellular processes, for example prevention of excessive epithelial cell growth and divisions. This suppressor gene is located on chromosome 18 within the region with frequent genetic losses in colorectal cancer. Inactivation of this gene is commonly found in pancreatic cancer where the SMAD-4 gene lost in the expression has been associated with a poor prognosis in this cancer...
January 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27914766/histomorphological-changes-in-endometriosis-in-a-patient-treated-with-ulipristal-a-case-report
#20
J Bateman, O Bougie, S Singh, S Islam
BACKGROUND: Selective progesterone receptor modulators have shown efficacy in the treatment of endometriosis, however they are not currently licensed in Canada for this purpose. Their histomorphological effects have been well documented in the endometrium, but not in endometriosis. CASE REPORT: The patient presented with uterine fibroids and heavy menstrual bleeding, and was treated with ulipristal acetate over three 90-day courses. She eventually elected to undergo definitive surgical management...
January 2017: Pathology, Research and Practice
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