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Human Pathology

Jiadi Luo, Juan Feng, Qiuyuan Wen, Christopher Qoyawayma, Weiyuan Wang, Lingjiao Chen, Junmi Lu, Yuting Zhan, Lina Xu, Hongjing Zang, Songqing Fan, Shuzhou Chu
Overexpression of Insulin Receptor Substrate 1 (IRS-1) has been reported to promote cell growth, atypical hyperplasia, and carcinogenesis. And phosphorylated Akt (p-Akt) is certified to be involved in many types of cancers such as breast invasive ductal carcinoma (BIDC). However, the relationship between IRS-1 and Akt, as well as the role of expression of IRS-1 in BIDC, has never been reported. The purpose of this research is to investigate the association between expression of IRS-1 and p-Akt proteins and clinicopathological features of BIDC by immunohistochemistry, as well as the survival status...
March 15, 2018: Human Pathology
Jennifer B Gordetsky, Luciana Schultz, Kristin K Porter, Jeffrey W Nix, John V Thomas, Maria Del Carmen Rodriguez Pena, Soroush Rais-Bahrami
MR/ultrasound fusion targeted biopsy(TB) routinely samples multiple cores from each MR lesion of interest. Pathologists can evaluate the extent of cancer involvement and grade using an individual-core(IC) or aggregate(AG) method, which could potentially lead to differences in reporting. We reviewed patients who underwent TB followed by radical prostatectomy(RP). TB cores were evaluated for grade and tumor extent by two methods. IC method: grade for each TB lesion was based on the core with the highest Gleason score...
March 15, 2018: Human Pathology
Junko Aida, Tatsuro Ishizaki, Tomio Arai, Kaiyo Takubo
Endoscopic resection (ER) has become the standard therapy for superficial Barrett's carcinoma (BC) in Japan and other countries. Patients undergoing ER sometimes require additional treatment because of recurrence of lymph node metastasis (LNM). We attempted to clarify the histopathologic risk factors for LNM, and the difference between these risk factors for Japanese patients and the conventional risk factors documented for Western patients. This multi-center study included 12 leading institutions belonging to the Japan Research Society for Early Esophageal Cancer and Chromoendoscopy, and was based on a questionnaire designed to gather data on the features of superficial BC cases, except for high-grade intraepithelial neoplasia, treated at those institutions...
March 10, 2018: Human Pathology
Eva E Tejerina, Rebeca Padilla, Elena Abril, Fernando Frutos-Vivar, Aida Ballen, José María Rodríguez-Barbero, José Ángel Lorente, Andrés Esteban
We evaluate the evolution over time of discrepancies between clinical diagnoses and post-mortem findings in critically ill patients, and to assess the factors associated with these discrepancies. We conducted a prospective study of all consecutive patients who underwent autopsy autopsies in a medical-surgical ICU between January 2008 and December 2015. Among 7.655 patients admitted to our ICU, 671 (8.8%) died. Clinical autopsy was performed in 215 (32%) patients. Major missed diagnoses were noted in 38 patients (17...
March 9, 2018: Human Pathology
Gisella Vischini, Meghan E Kapp, Ferrin C Wheeler, Laszlo Hopp, Agnes B Fogo
Alport syndrome is due to mutations in one of the genes encoding (α3,4,5) type IV collagen resulting in defective type IV collagen, a key component of the glomerular basement membrane (GBM). The GBM is initially thin, and with ongoing remodeling, develops a thickened basket-woven appearance. We report a unique case of a 9-year-old boy who was biopsied for hematuria and proteinuria, diagnosed as IgA nephropathy, with normal GBM appearance and thickness. Due to a family history of hematuria and chronic kidney disease, he subsequently underwent genetic evaluation and a mutation of α3 type IV collagen (COL4A3) was detected...
March 9, 2018: Human Pathology
Nicoletta Coccaro, Antonella Zagaria, Paola Orsini, Luisa Anelli, Giuseppina Tota, Paola Casieri, Luciana Impera, Angela Minervini, Crescenzio F Minervini, Cosimo Cumbo, Elisa Parciante, Anna Mestice, Mario Delia, Claudia Brunetti, Giorgina Specchia, Francesco Albano
Most Acute Promyelocytic Leukemia (APL) patients express PML-RARA fusion; in rare cases RARA is rearranged with partner genes other than PML. To date, only two patients presenting features similar to APL showing the RARG gene rearrangement have been described. We report an Acute Myeloid Leukemia (AML) patient with morphology resembling APL without involvement of the RARA gene. Molecular and Fluorescent In Situ Hybridization (FISH) analyses excluded PML-RARA fusion and variant rearrangements involving RARA and RARG loci...
March 9, 2018: Human Pathology
Pei Hui, Stefan M Gysler, Mohamed Uduman, Taiwo A Togun, Daniel E Prado, Christine E Richter, Sunitha Nallur, Peter E Schwartz, Thomas J Rutherford, Alessandro D Santin, Joanne B Weidhaas, Elena S Ratner
Synchronous endometrial and ovarian malignancies occur in 5% of women presenting with endometrial cancer and 10% of patients presenting with ovarian malignancy. When a high-grade serous carcinoma concurrently involves both ovary and endometrium, pathological determination of whether they are synchronous primaries or metastatic tumors from one primary site can be challenging. MicroRNAs (miRNA) are 22-nucleotide noncoding RNAs that are aberrantly expressed in cancer cells and may inherit their cellular linage characteristics...
March 5, 2018: Human Pathology
Qian Ding, Zhen Li, Bin Liu, Liping Ling, Xiangguo Tian, Chunqing Zhang
Propranolol is known to reduce portal pressure by decreasing blood flow to the splanchnic circulation and the liver. However, it is unknown if propranolol improves fibrogenesis and sinusoidal remodeling in the cirrhotic liver. The aim of this study was to investigate the therapeutic effects of propranolol on carbon tetrachloride (CCl4 )-induced liver fibrosis in a mouse model and the intrinsic mechanisms underlying those effects. In this study, a hepatic cirrhosis mouse model was induced by CCl4 administration for 6weeks...
March 4, 2018: Human Pathology
Xiao-Hong Pu, Qing Ye, Jun Yang, Hong-Yan Wu, Xi-Wei Ding, Jiong Shi, Liang Mao, Xiang-Shan Fan, Jun Chen, Yu-Dong Qiu, Qin Huang
Intrahepatic cholangiocarcinoma (ICC) is a subtype of primary liver cancer rarely curable by surgery that is increasing rapidly in incidence. Chromosomal translocations and amplifications of the fibroblast growth factor receptor 2 (FGFR2) locus are present in several kinds of tumors including ICC, but their incidence has not been assessed in Chinese patients. Using break-apart probes and by determining the ratios of FGFR2/chromosome enumeration probe (CEP) 10 double-color probes, we evaluated 122 ICCs for the presence of FGFR2 translocations and amplifications, respectively, by fluorescence in situ hybridization (FISH)...
March 4, 2018: Human Pathology
Masakazu Fujimoto, Yuki Togashi, Ibu Matsuzaki, Satoko Baba, Kengo Takeuchi, Yutaka Inaba, Masatoshi Jinnin, Shin-Ichi Murata
Frequent kinase fusions have been reported in spitzoid neoplasms, approximately 10% of which involve ALK rearrangements. Herein, we report a case of atypical Spitz tumour (AST) with a novel MLPH-ALK fusion, which has not been previously reported to contribute to cancer development. The tumour was detected in the right arm of a 40-year-old woman. The novel ALK fusion was identified by a 5'-rapid amplification of cDNA ends-based system optimised for formalin-fixed paraffin-embedded tissue. Initially, ALK expression was detected by immunohistochemistry (IHC) using 5A4 antibodies for both sensitive and conventional polymer detection method...
March 4, 2018: Human Pathology
Kimberley N Sent-Doux, Craig Mackinnon, Jen-Chieh Lee, Andrew L Folpe, Omar Habeeb
Phosphaturic Mesenchymal Tumor (PMT) is a rare, histologically distinctive neoplasm, which classically presents with phosphaturia and tumor-induced osteomalacia (TIO) (i.e., oncogenic osteomalacia). Both the phosphaturia and TIO are due to paraneoplastic production of FGF23 (a phosphatonin) by the neoplastic cells, which are genetically characterized by rearrangements of FN1 (most often with FGFR1 - and less frequently with FGF1). However, rare cases of PMT present without phosphaturia and TIO (i.e., the "non-phosphaturic" variant) - and are therefore much more challenging to diagnose...
March 4, 2018: Human Pathology
Margarita N German, Kristina A Matkowskyj, Robert J Hoffman, Parul D Agarwal
While the incidence of syphilis has been persistently on the rise in the United States, hepatitis as a complication of early syphilis is relatively uncommon. We present a case of a 51-year-old homosexual, HIV-positive male who presented with acute cholestatic hepatitis with a predominantly elevated alkaline phosphatase. After lab studies and imaging were unrevealing, a liver biopsy was performed that showed expanded portal tracts with a predominantly lymphoplasmacytic infiltrate and prominent bile ductular proliferation with periductal neutrophils...
March 2, 2018: Human Pathology
M D Cyrus Oster, M D Theodore Stein, M D Sumire Kitahara, M D Serhan Alkan, Qin Huang
Primary effusion lymphoma (PEL) is a distinct clinicopathologic entity usually characterized by presentation as a lymphomatous body cavity effusion in the absence of solid tumor mass or dissemination during its clinical course. PEL can also rarely occur as a solid lymphoma involving nodal and extranodal sites and is referred to as extracavitary PEL. Here we report a unique case of extracavitary PEL in a 49year-old HIV-seropositive patient, who presented with vague abdominal pain and 20 pound weight loss. Esophagogastroduodenoscopy and colonoscopy revealed >100 broad based intestinal polyps ranging from 2 mm to 3cm in size, spreading from the duodenum to the rectum as a typical impression of "intestinal polyposis syndrome"...
March 2, 2018: Human Pathology
Alexander J Gallan, W James Chon, Michelle A Josephson, Patrick N Cunningham, Kammi J Henriksen, Anthony Chang
Acute T cell-mediated rejection (TCMR) is an important cause of renal allograft loss. The Banff classification for tubulointerstitial (type I) rejection is based on the extent of both interstitial inflammation and tubulitis. Lymphocytes may also be present between parietal epithelial cells and Bowman capsules in this setting, which we have termed "capsulitis." We conducted this study to determine the clinical significance of capsulitis. We identified 42 patients from the pathology archives at the University of Chicago with isolated Banff type I TCMR from 2010-2015...
February 28, 2018: Human Pathology
Paul N Manley, Suzan Abu-Abed, Richard Kirsch, Andrea Hawrysh, Nicole Perrier, Harriet Feilotter, Aaron Pollett, Robert Riddell, Lawrence Hookey, Jagdeep S Walia
Germline activating platelet derived growth factor receptor alpha (PDGFRA) mutations have been described in four families. All the index patients have presented with multiple mesenchymal tumors of the gastrointestinal tract. We identified a fifth family with four first-degree relatives that harbor a PDGFRA exon 18 (D846V) germline mutation. The affected kindred have a unique phenotype including coarse facies and skin, broad hands and feet, and previously undescribed premature tooth loss. While the index patient presented with multiple small bowel inflammatory fibroid polyps (IFPs) and has a gastric gastrointestinal stromal tumor (GIST), no tumors have yet been identified in other family members...
February 24, 2018: Human Pathology
Chenguang Bai, Xiaohong Liu, Jingjing Xu, Chen Qiu, Runqiu Wang, Jianming Zheng
Gastrointestinal stromal tumor (GIST) is believed to originate from intestinal cells of Cajal or their stem-cell precursors, and expresses stemness-related markers, such as CD117, CD34, DOG1 and nestin. To further characterize phenotypic features of GISTs, we examined expression profiles of a panel of stemness genes in GISTs, by analyzing existing gene expression profiling datasets. Our results showed that mRNA levels of B-lymphoma moloney murine leukaemia virus insertion region-1 (BMI1), kruppel-like factor 4 (KLF4), sal-like protein 4 (SALL4) and telomerase reverse transcriptase (TERT) were significantly unregulated in GISTs...
February 24, 2018: Human Pathology
Yutao Zhang Master, Dan Wan Master, Fuping Gao Master
Low-grade fibromyxoid sarcoma (LGFMS) is a rare tumor with a bland histological appearance but malignant biological behavior. Primary LGFMS of breast has not been described in the English-language literature. Here, we report a 58-year-old Chinese female patient who presented with a painless mass in the right breast for more than 30 years. The tumor consists of spindle cells resembling fibroblasts and includes two kinds of morphological change, which are alternating collagenized hypocellular zone and cell-rich myxoid area...
February 24, 2018: Human Pathology
Zhixiong Chen, Shengjun Luo, Yanlin Chen, Xuemei Xie, Zhongbo Du, Li Jiang
As a tumor suppressor candidate gene, NPRL2 has anti-cancer effects against several cancers, but its potential role in prostate cancer (PCa) has not been reported. The present study aimed to explore the expression of NPRL2 in PCa and its potential clinical significance. Our results showed that expression of NPRL2 in PCa tissues was significantly higher than in non-PCa tissues (P<.001). High NPRL2 expression in PCa tissue was significantly correlated with a high Gleason grade group (P<.001), high pT stage (P<...
February 16, 2018: Human Pathology
Ying Zhang, Lin Tao, Can Yin, Weiwei Wang, Hong Zou, Yan Ren, Weihua Liang, Jinfang Jiang, Wenjie Zhang, Wei Jia, Feng Li
Ovarian microcystic stromal tumor is a relatively rare tumor type. This tumor is characterized by a unique microcyst structure and essentially all tumors show benign biological behavior. Here, we report a case with a primary ovarian microcystic stromal tumor that experienced recurrence. Pathological findings showed that the original tumor, relapsed tumor in the ovary, and the recurrent tumor in the iliac fossa presented similar histological features. The tumor mainly consisted of microcysts, solid cellular regions, and a fibrous stroma...
February 16, 2018: Human Pathology
Tianxiao Xu, Meng Ma, Jie Dai, Sifan Yu, Xiaowen Wu, Huan Tang, Jiayi Yu, Junya Yan, Huan Yu, Zhihong Chi, Lu Si, Xinan Sheng, Chuanliang Cui, Yan Kong, Jun Guo
Acral melanoma (AM) is a rapidly progressing subtype of melanoma with poor prognosis. The complete array of molecular changes that occur during AM metastasis remains unclear. In this study, we compared the gene expression profiles of six primary and 12 lymph node metastatic AM samples by tissue microarray analysis. We found that the expression levels of 396 genes were increased, and that of 766 genes were decreased in the metastatic tissues compared with that in the primary tumors. The top 19 genes upregulated in the metastatic tissue specimens were selected for high-content short interfering (si)RNA screening...
February 13, 2018: Human Pathology
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