Gielen I.,Institute of Pathology and Genetics
Abdominal Imaging | Year: 2010
Imaging findings of amyloid infiltration of the greater omentum, mesentery, and retroperitoneal spaces have only extremely rarely been reported in the radiological literature. This report illustrates the MDCT findings fortuitously found in a 70-year-old male presenting with a known latent myeloma. Extra abdominal deposits-axilla and cardiophrenic angles-were first fortuitously found during thoracic MDCT. Secondary abdominal MDCT revealed the extensive abdominal spread that consisted of very diffuse but asymptomatic pseudo carcinomatous hazy omental, mesenteric and-in a minder proportion-retroperitoneal deposits; these remained isolated without calcification, lymphadenopathy, ascites, or any sign of associated bowel wall thickening. A specific definite histologic diagnosis was made without laparotomy through a biopsy in the right axilla. © 2008 Springer Science+Business Media, LLC.
Moriniere V.,APHP |
Moriniere V.,Reference Center for Renal Hereditary Disease for Children and Adults |
Dahan K.,Institute of Pathology and Genetics |
Hilbert P.,Institute of Pathology and Genetics |
And 17 more authors.
Journal of the American Society of Nephrology | Year: 2014
Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15%and 1% - 5% of the families, respectively) and benign familial hematuria. Mutation screening of these three large genes is time-consuming and expensive. Here, we carried out a combination of multiplex PCR, amplicon quantification, and next generation sequencing (NGS) analysis of three genes in 101 unrelated patients. We identified 88 mutations and 6 variations of unknown significance on 116 alleles in 83 patients. Two additional indel mutations were found only by secondary Sanger sequencing, but they were easily identified retrospectively with the web-based sequence visualization tool Integrative Genomics Viewer. Altogether, 75 mutations were novel. Sequencing the three genes simultaneously was particularly advantageous as the mode of inheritance could not be determined with certainty in many instances. The proportion of mutations in COL4A3 and COL4A4 was notably high, and the autosomal dominant forms of Alport syndrome appearmore frequently than reported previously. Finally, this approach allowed the identification of large COL4A3 and COL4A4 rearrangements not described previously. We conclude that NGS is efficient, reduces screening time and cost, and facilitates the provision of appropriate genetic counseling in Alport syndrome. Copyright © 2014 by the American Society of Nephrology.
Nyiraneza C.,Catholic University of Louvain |
Jouret-Mourin A.,Catholic University of Louvain |
Kartheuser A.,Catholic University of Louvain |
Camby P.,Catholic University of Louvain |
And 4 more authors.
Human Pathology | Year: 2011
Although evidence suggests an inverse relationship between microsatellite instability and p53 alterations in colorectal cancer, no study has thoroughly examined the use of p53 immunohistochemistry in phenotyping colorectal cancers. We investigated the value of p53 immunohistochemistry in microsatellite instability-positive colorectal cancers prescreening and attempted to clarify the relationship between DNA mismatch repair system and p53 pathway. In a series of 104 consecutive colorectal cancers, we performed p53 immunohistochemistry, TP53 mutational analysis, DNA mismatch repair system efficiency evaluation (DNA mismatch repair system immunohistochemistry, microsatellite instability status, MLH1/MSH2 germ line, and BRAF, murine double minute 2, and p21 immunohistochemistry. Microsatellite instability high was observed in 25 of 104 colorectal cancers, with DNA mismatch repair system protein loss (24/25) and germ line (8/25) or BRAF mutations (8/25). p53 immunohistochemistry revealed 3 distinct patterns of expression: complete negative immunostaining associated with truncating TP53 mutations (P <.0001), diffuse overexpression associated with missense TP53 mutations (P <.0001), and restricted overexpression characterized by a limited number of homogenously scattered strongly positive tumor cells in 36.5% of colorectal cancers. This latest pattern was associated with wild-type TP53 and microsatellite instability high colorectal cancers (P <.0001) including all Lynch tumors (8/8), but its presence among 22% of DNA mismatch repair system-competent colorectal cancers decreased its positive predictive value (55.2% [95% confidence interval, 45%-65%]). It was also correlated with murine double minute 2 overexpression (P <.0001) and inversely with p21 loss (P =.0002), independently of microsatellite instability status. In conclusion, a restricted pattern of p53 overexpression is preferentially associated with microsatellite instability high phenotype and could, therefore, be of clinical use as signal for microsatellite instability analysis in a large-scale tumor screening. Its association with concomitant murine double minute 2 overexpression suggests an alternative mechanism of p53 pathway deregulation. © 2011 Elsevier Inc. All rights reserved.
Catteau X.,Institute of Pathology and Genetics |
Simon P.,Erasmes University Hospital |
Vanhaeverbeek M.,Free University of Colombia |
Noel J.-C.,Free University of Colombia
PLoS ONE | Year: 2013
In breast carcinoma, the stromal loss of CD34 expression and acquisition of SMA myofibroblastic features may constitute a prerequisite for tumor invasiveness. However, this hypothesis remains controversial, with some authors describing the loss of CD34 fibrocytes in the absence of SMA myofibroblastic-like cells in the stroma of invasive carcinoma. Others have also described the disappearance of CD34 fibrocytes from in situ carcinoma. To clarify this issue, we compared the distribution of CD34 fibrocytes and SMA reactive myofibroblasts between stromal areas of tumor-free mammary tissue, ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (IDC). In addition to 28 IDC, 300 normal duct-lobular units and 600 ducts with DCIS (158 low-grade, 266 intermediate, and 176 high-grade) were scored. The relationships between staining patterns and different histological features (grade of DCIS and presence or absence of necrosis) were compared. Loss of CD34 expression and acquisition of SMA expression were more frequent in high-grade in situ lesions than in intermediate and low-grade lesions (p<0.001). When necrosis was found in association with grade 2 or 3 DCIS, the decrease in CD34 expression was higher than in lesions without necrosis and that independently of the grade of DCIS (p<0.05). Necrosis did not appear to play a significant role in the expression of SMA (p = 0.35). In all cases, the stroma of invasive carcinomas showed a complete loss of CD34 fibrocytes. Future research on both CD34 fibrocytes and mechanisms stromal changes are essential in the future and may potentially lead to new treatment approaches. © 2013 Catteau et al.
Coulier B.,Clinique St Luc |
Desgain O.,Clinique St Luc |
Gielen I.,Institute of Pathology and Genetics
Head and Neck Pathology | Year: 2012
Sinonasal myospherulosis is a foreign body reaction to lipid material used on nasal packing at the conclusion of paranasal sinus surgery. Rare cases have been sporadically reported. We report a case found in a 79-year-old female 8 months after functional endoscopic sinus surgery during which sinus cavities had been packed with gauze coated with Terra-Cortril (a paraffin-based tetracycline/steroid ointment). The preoperative diagnosis was suggested during CT of the paranasal sinuses by the presence of macroscopic paraffin retention cysts having a characteristic fat density. To our knowledge, our case represents the first report of sinonasal myospherulosis suggested by CT. © 2011 Springer Science+Business Media, LLC.
Coulier B.,Clinique St. Luc |
Montfort L.,Clinique St. Luc |
Beniuga G.,Clinique St. Luc |
Pierard F.,Institute of Pathology and Genetics |
Gielen I.,Clinique St. Luc
Korean Journal of Radiology | Year: 2014
We hereby report a case of diffuse pelvic peritoneal involvement by immunoglobulin G4-related disease (IgG4-RD). Numerous pelvic masses and nodules showing delayed enhancement on enhanced abdominal CT were found to congregate in the pelvic organs of a 57-year-old female presenting with intestinal subocclusion. The differentiation between peritoneal IgG4-RD and pelvic peritoneal carcinomatosis was only made by histopathology and immunohistochemistry performed after surgical resection. Autoimmune pancreatitis represents the historical prototype of IgG4-RD, but the spectrum of manifestations involving various organs has expanded during the last decade. In this report, we shortly review this clinical entity. © 2014 The Korean Society of Radiology.
Catteau X.,Institute of Pathology and Genetics |
Catteau X.,Free University of Colombia |
Simon P.,Free University of Colombia |
Noel J.-C.,Free University of Colombia
BMC Cancer | Year: 2014
Background: The microenvironment modulates tissue specificity in the normal breast and in breast cancer. The stromal loss of CD34 expression and acquisition of SMA myofibroblastic features may constitute a prerequisite for tumor invasiveness in breast carcinoma. The aim of the present study is to examine the stromal expression of CD34 and SMA in cases of invasive ductal carcinoma and to try to demonstrate the role played by the TGF-ß 1 et TGF-ß R1 pathway in the transformation of normal breast fibrocytes into myofibroblasts.Methods: We carried out an immunohistochemical study of CD34, SMA, TGF-ß and TGF-ß R1 on a series of 155 patients with invasive ductal carcinoma. We also treated a breast fibrocytes cell line with TGF-ß1.Results: We found a loss of stromal expression of CD34 with the appearance of a myofibroblastic reaction in almost 100% cases of invasive ductal carcinoma. The strong stromal expression of SMA correlates with the presence of lymph node metastases. We were also able to show a greater expression of TGF-ß in the tumor cells as well as a higher expression of TGF- ß R1 in the tumor stroma compared to normal breast tissue. Finally, we demonstrated the transformation of breast fibrocytes into SMA positive myofibroblasts after being treated with TGF-ß1.Conclusions: Our study demonstrated that a significant tumor myofibroblastic reaction is correlated with the presence of lymph node metastasis and that this myofibroblastic reaction can be induced by TGF-ß1. Future research on fibrocytes, myofibroblasts, TGF-ß and stromal changes mechanisms is essential in the future and may potentially lead to new treatment approaches. © 2014 Catteau et al.; licensee BioMed Central Ltd.
PubMed | Institute of Pathology and Genetics, Free University of Colombia and University of Liège
Type: Journal Article | Journal: Oncology letters | Year: 2016
Glutathione (GSH) is the keystone of the cellular response toward oxidative stress. Elevated GSH content correlates with increased resistance to chemotherapy and radiotherapy of head and neck (HN) tumors. The purpose of the present cross-sectional study was to evaluate whether the expression of glutamate-cysteine ligase (GCL) accounts for the increased GSH availability observed in HN squamous cell carcinoma (SCC). For that purpose, the messenger (m)RNA levels of the modifier (M) and catalytic (C) subunits of GCL and its putative regulators (namely, nuclear factor erythroid 2-related factor 2, heme oxygenase-1 and nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha) were monitored in 35 surgical resections of untreated HNSCC. The localization of GCLM was evaluated using
PubMed | Institute Of Pathology And Genetics Grand Hopital Of Charleroi, Lebanese University, Free University of Colombia and Institute of Pathology and Genetics
Type: Journal Article | Journal: Pathology, research and practice | Year: 2016
The apolipoprotein L (apoL) family has not yet been ascribed any definite patho-physiological function although the conserved BH3 protein domain suggests a role in programmed cell death. As repression of the regular apoptotic program is considered a hallmark of tumor progression, we investigated apoL expression in cancer. We show that the levels of one member of the family, apolipoprotein L1 (apoL1) is higher in papillary thyroid carcinoma compared to normal tissue. A combination of qRTPCR, immunohistochemistry and in situ hybridization allowed us to ascribe this increase to endogenous overexpression in carcinoma cells. Whether apoL1 plays an instrumental role in refraining cell death is the subject of ongoing molecular biology experiments.
PubMed | Saint Luc University Hospital, Catholic University of Louvain, Lille University of Science and Technology, Beauvallon Psychiatric Hospital and 3 more.
Type: | Journal: Psychiatry research | Year: 2016
Huntingtons disease (HD) is centrally characterized by motor, neurocognitive and psychiatric symptoms, but impaired emotional decoding abilities have also been reported. However, more complex affective abilities are still to be explored, and particularly empathy, which is essential for social relations and is impaired in various psychiatric conditions. This study evaluates empathic abilities and social skills in pre-clinical and clinical HD, and explores the distinction between two empathy sub-components (emotional-cognitive). Thirty-six HD patients (17 pre-clinical) and 36 matched controls filled in the Empathy Quotient Scale, while controlling for psychopathological comorbidities. At the clinical stage of HD, no global empathy impairment was observed but rather a specific deficit for the cognitive sub-component, while emotional empathy was preserved. A deficit was also observed for social skills. Pre-clinical HD was not associated with any empathy deficit. Emotional deficits in clinical HD are thus not limited to basic emotion decoding but extend towards complex interpersonal abilities. The dissociation between impaired cognitive and preserved emotional empathy in clinical HD reinforces the proposal that empathy subtypes are sustained by distinct processes. Finally, these results underline the extent of distinct affective and social impairments in HD and the need to grasp them in clinical contexts.