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Diagnostic Pathology

Andreas H Scheel, Frédérique Penault-Llorca, Wedad Hanna, Gustavo Baretton, Peter Middel, Judith Burchhardt, Manfred Hofmann, Bharat Jasani, Josef Rüschoff
BACKGROUND: Detection of HER2/neu receptor overexpression and/or amplification is a prerequisite for efficient anti-HER2 treatment of breast and gastric carcinomas. Immunohistochemistry (IHC) of the HER2 protein is the most common screening test, thus precise and reproducible IHC-scoring is of utmost importance. Interobserver variance still is a problem; in particular in gastric carcinomas the reliable differentiation of IHC scores 2+ and 1+ is challenging. Herein we describe the physical basis of what we called the 'magnification rule': Different microscope objectives are employed to reproducibly subdivide the continuous spectrum of IHC staining intensities into distinct categories (1+, 2+, 3+)...
March 12, 2018: Diagnostic Pathology
Taha Sachak, Nyla A Heerema, Joel Mayerson, Jason E Payne, Anil Parwani, O Hans Iwenofu
BACKGROUND: Ischemic fasciitis is a distinctive pseudosarcomatous entity with a marked predilection for elderly and physically debilitated or immobilized patients. The etiology of these lesions is unknown but felt to be related to ischemic vascular events. CASE PRESENTATION: Herein, we report for the first time, two cytogenetic translocations, t(1;2)(p36.1;q23) and t(7;19)(q32;q13.3) in a 75 year-old ambulating female with a history of left total hip arthroplasty 20 years ago...
March 2, 2018: Diagnostic Pathology
Changfei Qin, Yuhua Huang, Yanfen Feng, Min Li, Na Guo, Huilan Rao
BACKGROUND: The clinicopathological features and Epstein-Barr virus (EBV) infection status of lymphoma in children and adolescents in South China is under-researched. South China is a well-known high-incidence area of EBV-associated nasopharyngeal carcinoma. METHODS: A cohort of 662 consecutive children and adolescents' lymphomas was retrospectively analyzed and Epstein-Barr virus encoded RNAs (EBERs) in situ hybridization was performed to detect the EBV infection...
February 27, 2018: Diagnostic Pathology
Jonathon H Gralewski, Ginell R Post, Frits van Rhee, Youzhong Yuan
BACKGROUND: Plasma cell myeloma (PCM) is a neoplasm of terminally differentiated B lymphocytes with molecular heterogeneity. Although therapy-related myeloid neoplasms are common in plasma cell myeloma patients after chemotherapy, transdifferentiation of plasma cell myeloma into myeloid neoplasms has not been reported in literature. Here we report a very rare case of myeloid neoplasm transformed from plasma cell myeloma. CASE PRESENTATION: A 60-year-old man with a history of plasma cell myeloma with IGH-MAF gene rearrangement and RAS/RAF mutations developed multiple soft tissue lesions one year following melphalan-based chemotherapy and autologous stem cell transplant...
February 20, 2018: Diagnostic Pathology
Abraham Christoffel van Wyk, Hennie van Zyl, Jonathan Rigby
BACKGROUND: Colorectal perineuriomas are uncommon benign mucosal-based proliferations of mesenchymal cells that express perineurial markers, often associated with colonic crypts displaying a serrated/hyperplastic architecture. The vast majority of cases arise distal to the splenic flexure and have been described as sessile polyps. Using molecular analysis, BRAF mutations have been demonstrated in the serrated crypt epithelium. We report a new case of perineurioma presenting as a pedunculated polyp in the transverse colon, with prominent hemosiderin deposits in the uninvolved lamina propria that separated the perineurial proliferation from the surface epithelium, a previously unreported histological finding...
February 20, 2018: Diagnostic Pathology
Yalin Zheng, Lin Nong, Li Liang, Wei Wang, Ting Li
BACKGROUND: Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) and accounts for less than 0.5% of all mastocytosis. The diagnosis of MCL requires the presence of SM criteria, accompanied by leukemic infiltrating of atypical mast cells (MCs) in bone marrow (BM), peripheral blood as well as extracutaneous organs. MCL is a fatal disease that almost always behaves aggressively, and the median survival time is only about six months. Herein, we present a rare case of de novo MCL without CD25 expression and KIT mutations...
February 20, 2018: Diagnostic Pathology
Robert W Cook, Brooke Middlebrook, Jeff Wilkinson, Kyle R Covington, Kristen Oelschlager, Federico A Monzon, John F Stone
BACKGROUND: The DecisionDx-Melanoma test provides prognostic information for patients with cutaneous melanoma (CM). Using formalin-fixed paraffin-embedded primary tumor tissue, the RT-PCR-based test classifies patients into a low- (Class 1) or high-risk (Class 2) category for recurrence based on expression of 31 genes. The current study was designed to assess the analytical validity of this test. METHODS: Inter-assay, inter-instrument, and inter-operator studies were performed to evaluate reliability of the 31-gene expression test results, sample stability and reagent stability...
February 13, 2018: Diagnostic Pathology
Margarita Udall, Maria Rizzo, Juliet Kenny, Jim Doherty, SueAnn Dahm, Paul Robbins, Eric Faulkner
BACKGROUND: The programmed death receptor 1 (PD-1) protein is a cell-surface receptor on certain lymphocytes that, with its ligand programmed death ligand 1 (PD-L1), helps to down-regulate immune responses. Many cancer types express PD-L1 and evade immune recognition via the PD-1/PD-L1 interaction. Precision therapies targeting the PD-1/PD-L1 pathway have the potential to improve response and thereby offer a novel treatment avenue to some patients with cancer. However, this new therapeutic approach requires reliable methods for identifying patients whose cancers are particularly likely to respond...
February 9, 2018: Diagnostic Pathology
Xiaowei Zhang, Haiming Wang, Qian Li, Yunpeng Liu, Peiqing Zhao, Tao Li
BACKGROUND: Several studies have suggested that claudin proteins, which are the main components of tight junction structures, are related to the regulation of cell polarity and cell differentiation. METHOD: To explore the expression profiles of the tight junction proteins claudin-2, - 5, - 8 and - 9 in nasopharyngeal carcinoma, IHC (immunohistochemical analysis), Western blot and real-time PCR were used to detect the expression profiles of these claudin proteins in nasopharyngeal carcinoma tissues and in non-neoplastic mucosal tissues...
February 5, 2018: Diagnostic Pathology
Ricardo Garcia Pastorello, Felipe D'Almeida Costa, Cynthia A B T Osório, Fabiana B A Makdissi, Stephania Martins Bezerra, Marina de Brot, Antonio Hugo J F M Campos, Fernando Augusto Soares, José Vassallo
BACKGROUND: Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare malignancy, recently recognized as a provisional entity by the World Health Organization. Although increasing data have been published on this entity in recent years, a great number of patients and health professionals remain unaware of this diagnosis. CASE PRESENTATION: We herein report the case of a 56-year-old female with Li-FRAUMENI syndrome who presented with late right-sided recurrent breast swelling after prophylactic adenomastectomy with implant reconstruction...
January 25, 2018: Diagnostic Pathology
Rondell P Graham, Bita V Naini, Sejal S Shah, Christina A Arnold, Rajesh Kannangai, Michael S Torbenson, Dora M Lam-Himlin
BACKGROUND: Human intestinal spirochetosis (IS) has been recognized for decades, but whether it represents commensalism or a pathogenic process remains controversial. IS is diagnosed on routine stains with confirmation by silver stains but these stains are labor intensive and slow to read. We evaluated the Treponema pallidum immunostain as a diagnostic adjunct for IS. METHODS: We retrieved biopsies from 33 patients with IS for this study. Each case was tested by Warthin-Starry (WS) and T...
January 22, 2018: Diagnostic Pathology
Na Cheng, Jianning Chen, Yuhang Pan, Ye Jiang, Jing Zhou, Chunkui Shao
BACKGROUND: Splenic hamartoma is a rare benign vascular proliferative lesion composed of unorganized sinusoid-like channels lined with plump or flat endothelial cells and characterized by a CD8-positive immunophenotype of the lining cells. Scattered bizarre stromal cells can be found in some splenic hamartomas. The presence of splenic hamartoma with bizarre stromal cells is extremely rare and these bizarre cells make it possible to be regarded as a malignancy. Recognition of this rare histologic variant will help to avoid diagnostic confusion and overtreatment of this benign entity...
January 22, 2018: Diagnostic Pathology
Ana Paula Percicote, Gabriel Lazaretti Mardegan, Elizabeth Schneider Gugelmim, Sergio Ossamu Ioshii, Ana Paula Kuczynski, Seigo Nagashima, Lúcia de Noronha
BACKGROUND: Nephroblastoma or Wilms tumor is the most frequent kidney cancer in children and accounts for 98% of kidney tumors in this age group. Despite favorable prognosis, a subgroup of these patients progresses to recurrence and death. The retinoic acid (RA) pathway plays a role in the chemoprevention and treatment of tumors due to its effects on cell differentiation and its antiproliferative, anti-oxidant, and pro-apoptotic activities. Reports describe abnormal cellular retinoic acid-binding protein 2 (CRABP2) expression in neoplasms and its correlation with prognostic factors and clinical and pathological characteristics...
January 22, 2018: Diagnostic Pathology
Atsuko Masunaga, Fumihiro Ishibashi, Eitetsu Koh, Takashi Oide, Yasuo Sekine, Kenzo Hiroshima
BACKGROUND: IgG4-related disease often forms a mass and the affected lesion is clinically removed because the mass cannot be differentiated from a neoplasm. Affected lesions commonly occur in the pancreas, hepatobiliary tract, kidney, and retroperitoneum. However, the lesion rarely occurs in the thymus. A histological worldwide consensus of IgG4-related disease proposed that pathological diagnosis of IgG4-related disease should meet more than two of three major features: 1) dense lymphoplasmacytic infiltration with greater than 40% IgG4+/IgG+ plasma cells, 2) storiform fibrosis; and 3) obliterative phlebitis...
January 17, 2018: Diagnostic Pathology
Xiaolong Liang, Jian Sun, Huanwen Wu, Yufeng Luo, Lili Wang, Junliang Lu, Zhiwen Zhang, Junchao Guo, Zhiyong Liang, Tonghua Liu
BACKGROUND: Programmed death ligand 1 (PD-L1) has shown potential as a therapeutic target in numerous solid tumors. Its prognostic significance has also been established in pancreatic ductal adenocarcinoma (PDAC). The present study aimed to explore PD-L1 expression in PDAC cases in a large Chinese cohort using an in vitro diagnostic (IVD) assay to provide further insight into the potential value of programmed cell death protein 1 (PD-1) as a therapeutic target. METHODS: Three hundred seventy-three PDAC patients were retrospectively recruited in this study...
January 17, 2018: Diagnostic Pathology
Eleonora Bonaparte, Chiara Pesenti, Laura Fontana, Rossella Falcone, Leda Paganini, Anna Marzorati, Stefano Ferrero, Mario Nosotti, Paolo Mendogni, Claudia Bareggi, Silvia Maria Sirchia, Silvia Tabano, Silvano Bosari, Monica Miozzo
BACKGROUND: Identification of predictive molecular alterations in lung adenocarcinoma is essential for accurate therapeutic decisions. Although several molecular approaches are available, a number of issues, including tumor heterogeneity, frequent material scarcity, and the large number of loci to be investigated, must be taken into account in selecting the most appropriate technique. MALDI-TOF mass spectrometry (MS), which allows multiplexed genotyping, has been adopted in routine diagnostics as a sensitive, reliable, fast, and cost-effective method...
January 12, 2018: Diagnostic Pathology
Yasuhiro Sakai, Yoshiaki Imamura
BACKGROUND: It has been recently accepted that IgG4-related thyroiditis is comparable to the Hashimoto and Riedel thyroiditis and Graves disease which are rich in IgG4-secreting plasma cells. Many physicians believe that in IgG4-related thyroiditis, the thyroid is entirely enlarged and diffusely affected, which is similar to conventional thyroiditis, but rarely ever accompanied by pseudoneoplastic mass formation as in IgG4-related disease in the other organs. This report introduces another pattern of IgG4-related thyroiditis as mass-forming thyroiditis and presents the occurrence of IgG4-related regional lymphadenopathy as an unusual accompanying symptom...
January 3, 2018: Diagnostic Pathology
Saki Ito, Riko Kitazawa, Ryuma Haraguchi, Takeshi Kondo, Ayaka Ouchi, Yasuo Ueda, Sohei Kitazawa
BACKGROUND: A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). CASE PRESENTATION: Here, we describe the case of an overlapped phenotype of these syndromes with agenesis of the gallbladder and the pancreas, bearing a c...
January 3, 2018: Diagnostic Pathology
Lara Alessandrini, Nicolò Clemente, Tiziana Perin, Giorgio Giorda, Vincenzo Canzonieri, Francesco Sopracordevole
BACKGROUND: Extra-mammary Paget's disease of the vulva (EMPDV) is an infrequent chronic disease that often recurs. The aim of the study was to assess the presence of neoangiogenesis and the expression of epithelial-mesenchymal transition (EMT) markers in EMPDV, and their potential correlation with stromal invasion. METHODS: All the women consecutively treated for EMPDV at our Institute, between January 2011 and December 2014, were studied for neoangiogenesis, analysed by microvessel density (MVD) using antibodies against CD31 and CD34...
January 3, 2018: Diagnostic Pathology
Piotr Donizy, Przemyslaw Biecek, Agnieszka Halon, Adam Maciejczyk, Rafal Matkowski
BACKGROUND: The nucleolus is an organelle that is an ultrastructural element of the cell nucleus observed in H&E staining as a roundish body stained with eosin due to its high protein content. Changes in the nucleoli cytomorphology were one of the first histopathological characteristics of malignant tumors. The aim of this study was to assess the relationship between the cytomorphological characteristics of nucleoli and detailed clinicopathological parameters of melanoma patients. Moreover, we analyzed the correlation between cytomorphological parameters of nucleoli and immunoreactivity of selected proteins responsible for, among others, regulation of epithelial-mesenchymal transition (SPARC, N-cadherin), cell adhesion and motility (ALCAM, ADAM-10), mitotic divisions (PLK1), cellular survival (FOXP1) and the functioning of Golgi apparatus (GOLPH3, GP73)...
December 29, 2017: Diagnostic Pathology
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