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Human Pathology

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https://www.readbyqxmd.com/read/28188754/nutm2a-cic-fusion-small-round-cell-sarcoma-a-genetically-distinct-variant-of-cic-rearranged-sarcoma
#1
Shintaro Sugita, Yasuhito Arai, Tomoyuki Aoyama, Hiroko Asanuma, Wakako Mukai, Natsuko Hama, Makoto Emori, Tatsuhiro Shibata, Tadashi Hasegawa
CIC-rearranged sarcoma is a new entity of undifferentiated small round cell sarcoma characterized by chimeric fusions with CIC-rearrangement. We report a NUTM2A-CIC fusion sarcoma in a 43-year-old woman who died of rapidly progressive disease. Histologic analysis revealed multinodular proliferation of small round tumor cells with mild nuclear pleomorphism. The sclerotic fibrous septa separated the tumor into multiple nodules. Immunohistochemistry showed that the tumor cells were diffusely positive for vimentin, focally positive for cytokeratin, and negative for CD99 and NKX2...
February 8, 2017: Human Pathology
https://www.readbyqxmd.com/read/28188753/mir-498-in-oesophageal-squamous-cell-carcinoma-clinicopathological-impacts-and-functional-interactions
#2
Farhadul Islam, Vinod Gopalan, Simon Law, Johnny Cheuk-On Tang, Kwok-Wah Chan, Alfred King-Yin Lam
MicroRNA-498 plays a crucial role in progression of many carcinomas. The signalling pathways that miR-498 modulates carcinogenesis are still unknown. Also, miR-498 associated molecular pathogenesis has never been studied in the oesophageal squamous cell carcinoma (ESCC). Herein, we aimed to examine the expression and functional roles of miR-498 in the ESCC as well as its influences on the clinicopathological features in patients with ESCC. Expression of miR-498 was investigated in 93 ESCC tissues and five ESCC cell lines using quantitative real-time polymerase chain reaction...
February 8, 2017: Human Pathology
https://www.readbyqxmd.com/read/28188752/comparison-of-five-ki67-antibodies-regarding-reproducibility-and-capacity-to-predict-prognosis-in-breast-cancer-does-the-antibody-matter
#3
Balázs Ács, Janina Kulka, K Attila Kovács, Ivett Teleki, Anna-Mária Tőkés, Ágnes Meczker, Balázs Győrffy, Lilla Madaras, Tibor Krenács, A Marcell Szász
Although several antibodies are available for immunohistochemical (IHC) detection of Ki-67, even the most commonly used MIB-1 has not been validated yet. Our aim was to compare 5 commercially available antibodies for detection of Ki-67 in terms of agreement and their ability in predicting prognosis of breast cancer. Tissue microarrays were constructed from 378 breast cancer patients' representative formalin-fixed paraffin-embedded tumor blocks. Five antibodies were used to detect Ki-67 expression: MIB-1-using chromogenic detection and immunofluorescent labeled (IF) MIB1-, SP-6, 30-9, poly and B56...
February 8, 2017: Human Pathology
https://www.readbyqxmd.com/read/28188751/r1-immunohistochemical-study-of-mucins-in-human-intestinal-spirochetosis
#4
Sho Ogata, Ken Shimizu, Susumu Tominaga, Kuniaki Nakanishi
Most patients with human intestinal spirochetosis (HIS; a colorectal bacterial infection caused by Brachyspira species) seem asymptomatic, and its pathogenicity remains unclear. Recently, alterations in mucin expression were reported in animal Brachyspira infection. The present question was "Is mucin expression altered in HIS?". Using antibodies for MUCs 1, 2, 4, 5 AC, and 6, we immunohistochemically compared 215 specimens from 83 histology-confirmed HIS cases with 106 specimens from 26 non-HIS cases. Positive staining (which included even focal positive staining) was rated "high (+)" or "low (+)"...
February 8, 2017: Human Pathology
https://www.readbyqxmd.com/read/28188750/kras-and-pik3ca-mutations-in-colorectal-adenocarcinomas-correlate-with-aggressive-histological-features-and-behavior
#5
Sejin Jang, Mineui Hong, Mi Kyung Shin, Byung Chun Kim, Hyung-Sik Shin, Eunsil Yu, Seung-Mo Hong, Jihun Kim, Sung Min Chun, Tae-Im Kim, Kyung-Chan Choi, Young Woong Ko, Jeong Won Kim
Tumor budding (TB) in colorectal carcinoma (CRC) is related to epithelial-mesenchymal transition (EMT) and has been recently characterized as an indicator of poor prognosis along with lymphovascular tumor emboli (LVE), perineural invasion (PNI), and an infiltrative growth pattern. Mutations in the genes of the Ras-MAPK and PI3K pathways are associated with EMT and an aggressive CRC phenotype and have been used in patient stratification for anti-EGF receptor therapies; however, the impact of these mutations on CRC morphology and behavior remains unclear...
February 8, 2017: Human Pathology
https://www.readbyqxmd.com/read/28188749/loss-of-par-3-protein-expression-is-associated-with-invasion-lymph-node-metastasis-and-poor-survival-in-esophageal-squamous-cell-carcinoma
#6
Tomoko Kitaichi, Kohichiroh Yasui, Yasuyuki Gen, Osamu Dohi, Naoto Iwai, Akira Tomie, Nobuhisa Yamada, Kei Terasaki, Atsushi Umemura, Taichiro Nishikawa, Kanji Yamaguchi, Michihisa Moriguchi, Yoshio Sumida, Hironori Mitsuyoshi, Yuji Naito, Yoh Zen, Yoshito Itoh
Disrupted cell polarity is a feature of epithelial cancers. The partitioning defective 3 (PAR-3) protein, a key component of the PAR complex that regulates the polarization of cells, is involved in tight junction formation at epithelial cell-cell contacts. Our previous study detected a homozygous deletion of the PAR-3 gene in esophageal squamous cell carcinoma (ESCC) cell lines and frequent copy number loss of the PAR-3 gene in primary ESCC. Here, we aimed to investigate the clinicopathological relevance of altered expression of the PAR-3 protein in primary ESCC...
February 8, 2017: Human Pathology
https://www.readbyqxmd.com/read/28161339/amyloid-%C3%AE-related-angiitis-a-report-of-two-cases-with-unusual-presentations
#7
Denise W Ng, Shino Magaki, Kevin H Terashima, Adrienne M Keener, Noriko Salamon, Stellios Karnezis, Luke Macyszyn, Harry V Vinters
Amyloid-β related angiitis (ABRA) is a rare complication of cerebral amyloid angiopathy in which amyloid-β (Aβ) deposition in the leptomeningeal and cortical vessels is associated with vasculitis characterized by transmural lymphohistiocytic, often granulomatous, inflammation. Patients usually present with acute to subacute cognitive dysfunction, headaches, and focal neurologic deficits. We report two cases of ABRA with unusual clinical presentations, including one case with fatal cerebral edema leading to herniation and Duret hemorrhages, and another associated with both lobar and deep parenchymal hemorrhages with intraventricular extension as well as hypercoagulability...
February 1, 2017: Human Pathology
https://www.readbyqxmd.com/read/28159677/clinicopathological-and-molecular-features-of-a-large-cohort-of-gastrointestinal-stromal-tumors-gists-and-review-of-the-literature-braf-mutations-in-kit-pdgfra-wildtype-gists-are-rare-events
#8
Sebastian Huss, Hlen Pasternack, Michaela Angelika Ihle, Sabine Merkelbach-Bruse, Birthe Heitkötter, Wolfgang Hartmann, Marcel Trautmann, Heidrun Gevensleben, Reinhard Büttner, Hans-Ulrich Schildhaus, Eva Wardelmann
In KIT/PDGFRA wild-type gastrointestinal stromal tumors (wt-GISTs), BRAF mutations are regarded as alternative pathogenic event driving tumorigenesis. In our study, we aimed at analyzing a large cohort (n=444) of GISTs for BRAF mutations using molecular and immunohistochemical methods. More than 3000 GIST samples from caucasian patients were available in our GIST and Sarcoma Registry NRW. Of these, we selected 172 wt-GISTs to evaluate the frequency of BRAF mutations. Furthermore, 272 GISTs with a representative KIT and PDGFRA mutational status were selected...
January 31, 2017: Human Pathology
https://www.readbyqxmd.com/read/28159676/transformation-of-prostatic-adenocarcinoma-to-well-differentiated-neuroendocrine-tumor-after-hormonal-treatment
#9
Syed Gilani, Charles C Guo, Elsa M Li-Ning, Curtis Pettaway, Patricia Troncoso
Carcinoid tumor of the prostate is extremely rare. Here we report a unique case of prostate cancer that underwent complete transformation from conventional adenocarcinoma to carcinoid-like tumor shortly after androgen deprivation treatment (ADT). The patient was a 59years old man who presented with lower urinary tract symptoms. His biopsy specimen demonstrated a high-grade prostatic adenocarcinoma with mixed acinar and ductal features. After ADT for 6months, the patient underwent radical prostatectomy. The post-ADT tumor showed monotonous neoplastic cells with fine granular chromatin forming rosette-like structures, resembling a carcinoid tumor...
January 31, 2017: Human Pathology
https://www.readbyqxmd.com/read/28159675/transforming-growth-factor-%C3%AE-and-interleukin-13-producing-mast-cells-are-associated-with-fibrosis-in-bone-marrow
#10
Shoko Nakayama, Taiji Yokote, Nobuya Hiraoka, Toshikazu Akioka, Uta Nishiwaki, Takuji Miyoshi, Kazuki Iwaki, Ayami Fumimoto, Yuki Masuda, Jun Hatooka, Mayumi Fujimoto, Yasuichiro Nishimura, Motomu Tsuji
Although bone marrow fibrosis is a lethal condition, its underlying mechanism is not fully understood. This study aimed to investigate the pathogenesis of fibrosis in the bone marrow through histological examination of mast cell infiltration and the expression of fibrosis-associated cytokines. We analyzed 22 bone marrows with fibrosis [eight primary myelofibrosis (PMF), five post-essential thrombocythemia (ET) myelofibrosis (MF), and nine myelodysplastic syndrome (MDS) with bone marrow fibrosis (BMF)]. Immunohistochemical and immunofluorescence staining were performed using anti-mast cell tryptase, interleukin (IL)-13, transforming growth factor-beta (TGF-β), CD34, and CD42b antibodies...
January 31, 2017: Human Pathology
https://www.readbyqxmd.com/read/28153508/tumor-infiltrating-lymphocytes-are-significantly-associated-with-better-overall-survival-and-disease-free-survival-in-triple-negative-but-not-estrogen-receptor-positive-breast-cancers
#11
Uma Krishnamurti, Ceyda Sonmez Wetherilt, Jing Yang, Limin Peng, Xiaoxian Li
Correlation between tumor-infiltrating lymphocytes (TILs) and complete pathological response (pCR) in breast cancers in neoadjuvant settings has been reported. In this study, we analyzed the association between TILs and diagnostic and prognostic parameters in estrogen receptor positive (ER+) and triple-negative breast cancer (TNBC) without neoadjuvant treatments. Three hundred and forty-four (344) patients who underwent mastectomy for breast cancer (187 ER+ and 157 TNBC) without neoadjuvant treatments were evaluated...
January 30, 2017: Human Pathology
https://www.readbyqxmd.com/read/28153507/expression-of-p63-protein-in-anaplastic-large-cell-lymphoma-implications-for-genetic-subtyping
#12
Xueju Wang, Rebecca L Boddicker, Surendra Dasari, Jagmohan S Sidhu, Marshall E Kadin, William R Macon, Stephen M Ansell, Rhett P Ketterling, Karen L Rech, Andrew L Feldman
Anaplastic large cell lymphomas (ALCLs) are CD30-positive T-cell non-Hodgkin lymphomas that bear chromosomal rearrangements of the TP53 homologue, TP63, in a subset of cases that demonstrate aggressive clinical behavior. In the present study, we examined the relationship between p63 protein expression by immunohistochemistry and the results of fluorescence in situ hybridization (FISH) using TP63 probes in 116 ALCLs. We also determined the relative expression of full-length TAp63 and truncated ΔNp63 isoforms (e...
January 30, 2017: Human Pathology
https://www.readbyqxmd.com/read/28153506/clinicopathologic-study-of-calcifying-fibrous-tumor-of-the-gastrointestinal-tract-a-case-series
#13
Maryam Kherad Pezhouh, M Katayoon Rezaei, Maryam Shabihkhani, Arunima Ghosh, Deborah Belchis, Elizabeth A Montgomery, Lysandra Voltaggio
Calcifying fibrous tumor (CFT) is a rare benign mesenchymal lesion known to arise at multiple body sites that may clinically mimic other more aggressive lesions in the gastrointestinal (GI) tract. In this study we describe the clinicopathologic findings of 28 GI tract CFTs. Tumors predominantly arose in middle aged adults with a slight female predominance. The most commonly involved sites were small bowel and colon, followed by stomach and appendix. Tumors ranged from 0.3 to 9.3cm (median 1.4cm) and submucosa was the most commonly involved layer...
January 30, 2017: Human Pathology
https://www.readbyqxmd.com/read/28132860/mantle-cell-lymphoma-with-a-novel-t-11-12-q13-p11-2-a-proposed-alternative-mechanism-of-ccnd1-upregulation
#14
Joshua R Menke, George Vasmatzis, Stephen Murphy, Lin Yang, David M Menke, Han W Tun, Rebecca L King, Stephanie A Smoley, Rhett P Ketterling, William R Sukov
Mantle cell lymphoma (MCL) is typically characterized by t(11;14) which places the IGH@ enhancer elements upstream of CCND1. This fusion results in upregulation of CCND1 and consequently its protein product cyclin D1. Recent studies have shown that in MCL, mutations or translocations occurring within the 3' untranslated region (UTR) of the CCND1 gene can result in a truncated mRNA transcript that is more stable and associated with more aggressive disease. We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11...
January 26, 2017: Human Pathology
https://www.readbyqxmd.com/read/28126582/making-sense-of-the-milestones-entrustable-professional-activities-for-pathology
#15
EDITORIAL
Deborah E Powell, Andrew Wallschlaeger
No abstract text is available yet for this article.
January 23, 2017: Human Pathology
https://www.readbyqxmd.com/read/28089541/insulin-like-growth-factor-ii-mrna-binding-protein-3-imp3-is-a-marker-that-predict-presence-of-invasion-in-papillary-biliary-tumors
#16
Motoko Sasaki, Yasunori Sato
Biliary tumors showing intraductal papillary growth (Pap-BT) include intraductal papillary neoplasm of the bile duct (IPNB) and papillary cholangiocarcinoma (CC). A differential diagnosis between IPNB and papillary CC currently remains challenging. The aim of the present study is to identify histological features and immunohistochemical markers of malignant potential such as tumor invasion in Pap-BT. Subjects comprised 37 patients with Pap-BT (intrahepatic and perihilar (proximal), 27; 17 non-invasive and 10 invasive); distal 10, all invasive)...
January 13, 2017: Human Pathology
https://www.readbyqxmd.com/read/28089540/aberrant-cdx2-expression-in-hepatocellular-carcinomas-an-important-diagnostic-pitfall
#17
Sejal S Shah, Tsung-Teh Wu, Michael S Torbenson, Vishal S Chandan
CDX2 is a sensitive and specific marker of intestinal differentiation. It is routinely used in surgical pathology, as its expression within a tumor favors an origin within the gastrointestinal tract. We had anecdotally encountered occasional hepatocellular carcinomas (HCC) that were CDX2 positive. CDX2 expression in HCC has not yet been reported but it has also not been examined in detail. Therefore, we evaluated CDX2 expression in a large number of resected HCCs. Full tumor sections from 172 resected HCCs and 6 resected fibrolamellar carcinomas (FLC) were stained for CDX2...
January 12, 2017: Human Pathology
https://www.readbyqxmd.com/read/28088346/msi1-promotes-tumor-progression-by-epithelial-to-mesenchymal-transition-in-cervical-cancer
#18
Pijun Gong, Yidong Wang, Yane Gao, Mei Gao, Lixia Liu, Ping Qu, Xinxing Jin, Qing Gao
Musashi1 (Msi1) is an RNA-binding protein that has been reported to be a pivotal regulator in tumorigenesis and progression in several cancers. However, its function and mechanism in cervical cancer is still unknown. In this study, Msi1 expression was found elevated in cervical cancers by immunohistochemistry and correlated with poor outcomes. Then, endogenous Msi1 was silenced in cervical cancer cell lines by short hairpin RNA (shRNA), and its function and mechanism were determined. The results showed that the silencing of Msi1 in SiHa and HeLa cells inhibited the cells' migratory and invasive abilities in vitro and tumor progression in vivo...
January 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/28088345/phenotypic-characterization-of-perivascular-myoid-cell-neoplasms-using-myosin-1b-a-newly-identified-human-pericyte-marker
#19
Shiori Meguro, Taisuke Akamatsu, Sayomi Matsushima, Isao Kosugi, Hideya Kawasaki, Yosifumi Arai, Satoshi Baba, Takashi Tsuchida, Youji Shido, Takafumi Suda, Toshihide Iwashita
Our aim was to identify pericyte-specific markers for the analysis of formalin-fixed paraffin-embedded (FFPE) human tissue samples, and to characterize perivascular myoid cell neoplasms phenotypically. Previously identified pericyte markers failed to distinguish pericytes from other cellular types, such as vascular smooth muscle cells (vSMCs) and fibroblasts, in immunohistochemical (IHC) analysis. However, we compared gene expression profiles between pericytes, vSMCs, and fibroblasts, and performed human skin vasculature IHC analysis, which led to the identification of myosin 1B (MYO1B) as a novel pericyte marker...
January 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/28087478/renal-involvement-in-lysinuric-protein-intolerance-contribution-of-pathology-to-assessment-of-heterogeneity-of-renal-lesions
#20
Emmanuel Estève, Pauline Krug, Aurélie Hummel, Jean-Baptiste Arnoux, Olivia Boyer, Anais Brassier, Pascale de Lonlay, Vincent Vuiblet, Stéphanie Gobin, Rémi Salomon, Christine Piètrement, Jean-Paul Bonnefont, Aude Servais, Louise Galmiche
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980's. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to end stage renal disease. The most common feature is proximal tubular dysfunction and nephrocalcinosis but glomerular lesions are also reported...
January 10, 2017: Human Pathology
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