Abstract:
BACKGROUND:Rhabdoid colorectal tumor (RCT) is a rare, highly aggressive neoplasm recurrent in elderly patients, commonly at the caecum. The molecular mechanisms underlying RCT pathogenesis remain poorly elucidated. The differential diagnosis is with the malignant rhabdoid tumors of infancy characterized by genetic inactivation of SMARCB1 (INI1) or deletions of chromosome 22q12 locus. MATERIALS AND METHODS:To shed light on RCT pathogenesis, we investigated genetic and epigenetic alterations in two cases of pure and composite RCT and compared them with the profiles of matched adenomas and normal mucosa. Immunohistochemical analysis, FISH, methylation specific PCR and DNA sequencing analysis were performed on paraffin-embedded tissues. RESULTS:Loss of epithelial markers, (CK20, CDX2 and E-cadherin) and intense vimentin expression was observed in RCTs but neither in the normal mucosa or adenomas. INI1 expression was detected in normal mucosa, adenomas and retained in pure RCT, while it was undetected in composite RCT. Rearrangement of the 22q12 locus was found only in pure RCT. The APC/β-catenin pathway was not altered, while MLH1 immunostaining was negative in RCTs and positive in adenomas and normal mucosa. These expression profiles were associated with V600E BRAF mutation, a progressive accumulation of promoter methylation at specific CIMP loci and additional genes from the normal mucosa to tubular adenoma and RCT. CONCLUSIONS:Right-sided RCT could be characterized by epigenetic events and molecular features likely similar to those occurring in the serrated pathway and associated with epithelial-mesenchymal transition. These extremely rare tumors may benefit from the use of new biological molecules specific for colorectal carcinoma. VIRTUAL SLIDES:The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1641385210804556.
journal_name
Diagn Patholjournal_title
Diagnostic pathologyauthors
Pancione M,Remo A,Sabatino L,Zanella C,Votino C,Fucci A,Di Blasi A,Lepore G,Daniele B,Fenizia F,Molinari E,Normanno N,Manfrin E,Vendraminelli R,Colantuoni Vdoi
10.1186/1746-1596-8-31subject
Has Abstractpub_date
2013-02-20 00:00:00pages
31issn
1746-1596pii
1746-1596-8-31journal_volume
8pub_type
杂志文章abstract:BACKGROUND:It is not clear if sentinel lymph node (SLN) mapping can improve outcomes in patients with colorectal cancers. The purpose of this study was to determine the prognostic values of ex vivo sentinel lymph node (SLN) mapping and immunohistochemical (IHC) detection of SLN micrometastasis in colorectal cancers. M...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-71
更新日期:2012-06-22 00:00:00
abstract:BACKGROUND:Rheumatoid Arthritis is a chronic disease leading to decreased quality of life with a rather variable response rate to Disease Modifying Anti Rheumatic Drugs. Methotrexate (MTX) is the gold standard therapy in Rheumatoid Arthritis. The Multidrug resistance Related Protein and Multi Drug Resistance protein 1,...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0447-1
更新日期:2015-12-30 00:00:00
abstract:BACKGROUND:Pleomorphic xanthoastrocytoma is rare, accounting for <1 % of all central nervous system (CNS) neoplasms. Angiomatous pleomorphic xanthoastrocytoma is an extremely rare variant of pleomorphic xanthoastrocytoma, with only six cases reported thus far. CASE PRESENTATION:A 24-year-old Chinese female patient who...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-016-0524-0
更新日期:2016-08-09 00:00:00
abstract:BACKGROUND:This study is to investigate the expression of progranulin (PGRN) in systemic lupus erythematosus (SLE) patients and the effect of glucocorticoid (GC) treatment on its expression. METHODS:Thirty newly diagnosed severe SLE patients and 30 healthy subjects were enrolled in this study. The serum levels of PGRN...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-8-88
更新日期:2013-05-23 00:00:00
abstract:BACKGROUND:Maspin is a unique member of the serine protease inhibitor superfamily and its expression is found in myoepithelial cells of normal mammary glands; therefore, it has been considered to be a myoepithelial marker. We previously reported that maspin was frequently expressed in biologically aggressive breast can...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-6-36
更新日期:2011-04-16 00:00:00
abstract:BACKGROUND:Osteosarcoma is the most common primary bone malignancy with high local aggressiveness and rapid metastasizing potential, resulting in poor survival. Increasing reports suggest that deregulated microRNAs (miRNAs) might provide novel therapeutic targets for cancers. However, the expression of miR-26a and miR-...
journal_title:Diagnostic pathology
pub_type: 杂志文章,收录出版
doi:10.1186/s13000-015-0400-3
更新日期:2015-09-17 00:00:00
abstract:BACKGROUND:The polymorphism Pro12Ala in peroxisome proliferator-activated receptor-γ2 gene (PPARγ2) has been reported to be associated with diabetic nephropathy (DN) in some studies, though the results remain inconclusive. To explore this relationship between PPARγ2 Pro12Ala polymorphism and the susceptibility for DN, ...
journal_title:Diagnostic pathology
pub_type: 杂志文章,meta分析,评审
doi:10.1186/1746-1596-8-118
更新日期:2013-07-15 00:00:00
abstract:BACKGROUND:70-80% of sporadic endometrial carcinomas are defined as endometrioid carcinoma (EC). Early-stage, well differentiated endometrial carcinomas usually retain expression of estrogen and progesterone receptors (ER and PR, respectively), as advanced stage, poorly differentiated tumors often lack one or both of t...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-77
更新日期:2014-03-31 00:00:00
abstract::Epstein-Barr virus (EBV)-associated B-cell post-transplantation lymphoproliferative disorder (PTLD) is a severe complication following stem cell transplantation. This is believed to occur as a result of iatrogenic immunosuppression leading to a relaxation of T-cell control of EBV infection and thus allowing viral reac...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-5-21
更新日期:2010-03-31 00:00:00
abstract:BACKGROUND:To quantify the effect of cruciferous vegetable consumption on the incidence of ovarian cancer by meta-analyzing the existing observational studies and provides quantitative and high-level evidence. METHODS:A detailed literature search of Medline and EMBASE for all relevant papers published. A meta-analysis...
journal_title:Diagnostic pathology
pub_type: 杂志文章,meta分析
doi:10.1186/1746-1596-9-7
更新日期:2014-01-20 00:00:00
abstract::Non-necrotizing epithelioid granulomas have been described in association with many primary tumors. In such cases, they are designated as sarcoid-like reaction. Although it is more seen in carcinomas than in sarcomas, it is very rarely reported in renal carcinoma. Here, we describe a rare association of prominent peri...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-28
更新日期:2012-03-18 00:00:00
abstract:BACKGROUND:Malignant melanoma is the most lethal form of skin cancer with a variable clinical course even in patients with thin melanomas and localized disease. Despite increasing insights into melanoma biology, no prognostic biomarkers have yet been incorporated into clinical protocols. Reduced expression of the RNA b...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-82
更新日期:2012-07-17 00:00:00
abstract:BACKGROUND:Human papillomavirus-associated oropharyngeal carcinoma (HPV-OPC) is clinicopathologically distinct entity from the HPV-unassociated one (nHPV-OPC). This study aimed to determine the relationship between histological subtypes of OPC and HPV status for Japanese cases and to identify histological structures of...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-8-211
更新日期:2013-12-19 00:00:00
abstract::Telepathology, the practice of pathology at a long distance, has advanced continuously since 1986. Today, fourth-generation telepathology systems, so-called virtual slide telepathology systems, are being used for education applications. Both conventional and innovative surgical pathology diagnostic services are being ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-6-S1-S1
更新日期:2011-03-30 00:00:00
abstract:BACKGROUND:Glomus tumors typically occur in the subcutaneous tissue of distal extremities, but rarely in visceral organs. Most glomus tumors are benign, while others have been reported to have malignant potential. Herein, a unique case of a liver glomus tumor with atypical histological features is reported. CASE PRESE...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0355-4
更新日期:2015-07-19 00:00:00
abstract:BACKGROUND:The microRNAs present a class of non-coding RNAs which are usually implicated in tumor biology. Recent report has unraveled that a novel member of microRNA family called miR-1246. However, the functional role and molecular mechanisms of miR-1246 in non-small cell lung cancer (NSCLC) is still elusive. METHOD...
journal_title:Diagnostic pathology
pub_type: 杂志文章,收录出版
doi:10.1186/s13000-015-0366-1
更新日期:2015-07-25 00:00:00
abstract:BACKGROUND:Evaluation of core needle biopsies (CNB) is a standard procedure for the diagnosis of breast cancer. However, tissue processing and image preparation is a time- consuming procedure and instant on-site availability of high-quality images could substantially improve the efficacy of the diagnostic procedure. Co...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-019-0835-z
更新日期:2019-06-15 00:00:00
abstract:BACKGROUND:Gastrointestinal stromal tumors (GISTs), a type of mesenchymal tumor in the gastrointestinal tract, are believed to be closely associated with PDGFRA and C-KIT mutations. Schwannoma in the stomach, which is an unusual location, is a rare disorder. The simultaneous occurrence of the two diseases is rarer than...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-019-0898-x
更新日期:2019-10-23 00:00:00
abstract::This research was conducted on ten glass slides selected from the histopathology evaluation chickens. Five slides of control's chickens healthy and five slides of chickens infected experimentally with chicken anemia virus (CAV slide) between one and twenty-one days post infection (PI), they were analyzed in magnificat...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-3-S1-S21
更新日期:2008-07-15 00:00:00
abstract:BACKGROUND:The Eastern Quebec Telepathology Network (called Réseau de Télépathologie de l'Est du Québec in French) was created to provide uniform diagnostic telepathology services in a huge territory with low population density. We report our first 3-year experience. METHODS:The network was funded equally by the Québe...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-S1-S1
更新日期:2014-01-01 00:00:00
abstract::Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by recurrent coma, ventricular tachycardias and the replacement of the myocardium with fatty and fibrous tissue. We described a 42-year-old female patient without clinical arrhythmias which was diagnosed as ARVC by magnetic resonance imaging (MRI)...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-67
更新日期:2012-06-12 00:00:00
abstract:BACKGROUND:Metastatic spread of tumor through lymphatic vasculature is an important adverse prognostic factor in a variety of human cancer and tumor lymphangiogenesis requires the interplay of several growth factors. Platelet-derived growth factor (PDGF)-BB and vascular endothelial growth factor (VEGF)-C are two import...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-128
更新日期:2014-06-27 00:00:00
abstract:BACKGROUND:Colorectal cancer (CRC) remains a major worldwide cause of cancer-related morbidity and mortality largely due to the insidious onset of the disease. The current clinical procedures utilized for disease diagnosis are invasive, unpleasant, and inconvenient. Hence, the need for simple blood tests that could be ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-53
更新日期:2014-03-12 00:00:00
abstract:UNLABELLED:The differential diagnosis between idiopathic nonspecific interstitial pneumonia(INSIP) and idiopathic pulmonary fibrosis(IPF)/usual interstitial pneumonia(UIP)is tough in both clinicians and pathologists. In this study, we analyzed the lesions of right lung removed from a 58-year-old patient by gross and mi...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-167
更新日期:2012-12-03 00:00:00
abstract:BACKGROUND:Primary diffuse large B cell lymphoma (DLBCL) of the uterus is rare, and primary DLBCL arising from a uterine leiomyoma (collision tumor) has not been reported in the literature. CASE PRESENTATION:We describe the clinical, histological, immunohistochemical, and molecular features of primary DLBCL arising fr...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-016-0464-8
更新日期:2016-01-20 00:00:00
abstract::This study examined the effect of tissue section thickness and consistency--parameters outside the direct control of the imaging devices themselves--on WSI capture speed and image quality. Preliminary data indicates that thinner, more consistent tissue sectioning (such as those produced by automated tissue sectioning ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-3-S1-S12
更新日期:2008-07-15 00:00:00
abstract:BACKGROUND:Discordant lymphoma is defined by the simultaneous presence of two or more distinct types of lymphomas at different anatomic sites. With fewer than 20 studies reporting cases of discordant lymphoma to date, the incidence of this condition is believed to be very low. CASE PRESENTATION:Here, we report a case ...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-015-0450-6
更新日期:2015-12-29 00:00:00
abstract:BACKGROUND:The presence of histologically different neoplasms in the same organ is rare in pathologic practice. We report the first case of synchronous clear cell renal cell carcinoma (clear cell RCC) and papillary renal neoplasm with reverse polarity (PRNRP) with comprehensive immunohistochemical and molecular charact...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-020-01042-7
更新日期:2020-10-06 00:00:00
abstract::We started to use virtual slide (VS) and virtual microscopy (VM) systems for quick frozen intra-operative telepathology diagnosis in Kyoto, Japan. In the system we used a digital slide scanner, VASSALO by CLARO Inc., and a broadband optic fibre provided by NTT West Japan Inc. with the best effort capacity of 100 Mbps....
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-3-S1-S6
更新日期:2008-07-15 00:00:00
abstract:BACKGROUND:After introduction of the concept of critical value (CV) in laboratory medicine, some efforts were performed to define possible critical values in surgical pathology. Critical diagnosis (critical value) is a concept recently established in surgical pathology and is a challenging issue among pathologists and ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-3-30
更新日期:2008-07-12 00:00:00