We report a case of fatal pneumococcal sepsis in a previously healthy 22 month old child. At postmorten examination the patient was found to have an atrophic spleen. When other malformations are not associated, congenital asplenia is... more
We report a case of fatal pneumococcal sepsis in a previously healthy 22 month old child. At postmorten examination the patient was found to have an atrophic spleen. When other malformations are not associated, congenital asplenia is generally diagnosed after death related to pneumococcal infection.
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Von Hippel-Lindau (VHL) disease is characterized by multiple tumors in specific target organs. The tumors at different sites share distinct morphologic and genetic characteristics but their cell of origin is unknown. We show that VHL... more
Von Hippel-Lindau (VHL) disease is characterized by multiple tumors in specific target organs. The tumors at different sites share distinct morphologic and genetic characteristics but their cell of origin is unknown. We show that VHL disease-associated renal clear cell carcinomas (RCC) consistently coexpress erythropoietin (Epo) and Epo receptor (EpoR). In addition, coexpression of Epo and EpoR is detected in many renal cysts, providing further evidence that renal cysts are potential precursors for RCC. In conjunction with VHL gene deficiency, coexpression of Epo and EpoR in renal cysts and tumors may reflect a developmental arrest in immature mesenchymal cells. Such arrest may lead to autocrine stimulation, cell proliferation, and renal tumor development, similar to tumorigenesis of VHL disease-associated hemangioblastomas.
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Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of children. Tumors arising in the extrahepatic biliary tree are extremely rare (less than 1% of cases). In this location, most are RMS of the botryoid type. We report a case... more
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of children. Tumors arising in the extrahepatic biliary tree are extremely rare (less than 1% of cases). In this location, most are RMS of the botryoid type. We report a case of a 10-year-old child with embryonal RMS arising in the mesenchyma of the hepatic pedicle. Most tumor cells were large, round with abundant eosinophilic cytoplasm. A few cells were small round or spindle-shaped. Tumor cells showed positive immunostaining for muscle markers: desmin and sarcomeric actin. Electron microscopy revealed 2 types of cells: some were undifferentiated and others showed striated muscle differentiation features.
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Clear cell renal cell carcinomas (RCC) frequently display inactivation of von Hippel-Lindau (VHL) gene leading to increased level of hypoxia-inducible factors (HIF). In this study, we investigated the potential role of HIF2α in regulating... more
Clear cell renal cell carcinomas (RCC) frequently display inactivation of von Hippel-Lindau (VHL) gene leading to increased level of hypoxia-inducible factors (HIF). In this study, we investigated the potential role of HIF2α in regulating RCC susceptibility to natural killer (NK) cell-mediated killing. We demonstrated that the RCC cell line 786-0 with mutated VHL was resistant to NK-mediated lysis as compared with the VHL-corrected cell line (WT7). This resistance was found to require HIF2α stabilization. On the basis of global gene expression profiling and chromatin immunoprecipitation assay, we found ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) as a direct novel target of HIF2α and that targeting ITPR1 significantly increased susceptibility of 786-0 cells to NK-mediated lysis. Mechanistically, HIF2α in 786-0 cells lead to overexpression of ITPR1, which subsequently regulated the NK-mediated killing through the activation of autophagy in target cells by NK-derived signal. ...
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Lymphoepithelial carcinoma is a relatively common malignancy in the nasopharynx, but it rarely occurs in other sites. We report 3 additional cases of cutaneous location. Histopathologically, the tumors consisted of multiple... more
Lymphoepithelial carcinoma is a relatively common malignancy in the nasopharynx, but it rarely occurs in other sites. We report 3 additional cases of cutaneous location. Histopathologically, the tumors consisted of multiple well-circumscribed dermal-hypodermal nodules composed of aggregates of undifferentiated malignant cells. These cells had moderate amounts of eosinophilic cytoplasm and vesicular nuclei with prominent nucleoli. There was no squamous or glandular differentiation. For each case, a heavy lymphoplasmacytic infiltrate was found. No dysplasia was noted in the epidermis. In one case, the tumoral component showed numerous Sternberg-like cells scattered within a lymphocytic background. This case might be mistaken with a Hodgkin's lymphoma. Immunohistochemistry showed that the neoplastic cells were positive for cytokeratin and epithelial membrane antigen. In the present report, studying the stroma reaction cell components, we have stressed the presence of numerous factor XIIIa-positive dendritic cells in 2 cases. Because of the role of these cells in the immune response of normal stroma, their presence herein might be in relation with the favorable prognosis of this type of primary skin carcinoma. No Epstein-Barr viral genomic sequences were detected by in situ hybridization. This negativity for Epstein-Barr virus may be a help in the differential diagnosis from metastatic undifferentiated nasopharyngeal carcinoma.
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Nous rapportons le cas d’un patient caucasien de 57 ans chez lequel le diagnostic de toxoplasmose vésicale a été porté difficilement en raison d’une présentation clinique trompeuse. Le patient s’est présenté pour une pollakiurie et des... more
Nous rapportons le cas d’un patient caucasien de 57 ans chez lequel le diagnostic de toxoplasmose vésicale a été porté difficilement en raison d’une présentation clinique trompeuse. Le patient s’est présenté pour une pollakiurie et des brûlures mictionnelles. L’imagerie mettait en évidence un épaississement pseudotumoral de la paroi vésicale. Le diagnostic de toxoplasmose vésicale a permis de révéler l’infection par le VIH. Le décès est survenu rapidement par atteinte neurologique. Ce cas est le second cas décrit dans la littérature de toxoplasmose vésicale révélatrice d’une infection par le VIH.A case of bladder toxoplasmosis in a 57-year-old male Caucasian patient was diagnosed with difficulty due to misleading clinical presentation. The patient presented with pollakiuria and urination burning. Imagery showed pseudotumoral thickening of the vesicle wall. Previously unknown status of HIV infection was found positive through the diagnosis of bladder toxoplasmosis. The patient died rapidly from neurological complications. This is the second published case in which bladder toxoplasmosis reveals an HIV infection.
ABSTRACT We report a case of chromophobe cell renal carcinoma demonstrating the pathological correlation. The chromophobe tumor is an uncommon type of renal cell carcinoma, the third after the clear cell a and the tubulopapillary... more
ABSTRACT We report a case of chromophobe cell renal carcinoma demonstrating the pathological correlation. The chromophobe tumor is an uncommon type of renal cell carcinoma, the third after the clear cell a and the tubulopapillary carcinoma. This tumor is lobulated, and some parts have a spoke-wheel-like enhancement with a central scar.
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The aim of this study was to clarify the current role of adjuvant and neo-adjuvant in the treatment of kidney cancer. The data were explored in Medline (http://www.ncbi.nlm.nih.gov) using the following MeSH terms or combinations of these... more
The aim of this study was to clarify the current role of adjuvant and neo-adjuvant in the treatment of kidney cancer. The data were explored in Medline (http://www.ncbi.nlm.nih.gov) using the following MeSH terms or combinations of these keywords: "cancer", "rein", "kidney", "adjuvant", "neoadjuvant", "antiangiogenique", "antiangiogenic" and selecting the items produced in their methodology, their relevance to the theme explored and their date of publication. Thirty-two English and French items published between 2001 and 2011 were selected: five studies of evidence level 1, nine level 2 studies, nine level 4 studies, five studies at level 5 and four literature reviews. The cytoreductive nephrectomy as first-line treatment of locally advanced or metastatic kidney cancer is now controversial with the advent of new targeted anti-angiogenic therapies. In neoadjuvant setting, these treatments showed a moderate decrease...
Research Interests: Humans and Nephrectomy
We report an atypical case of congenital erythroleukemia in a child born with hepatosplenomegaly and abnormal liver tests. The initial peripheral blood cell count showed anemia and hyperleukocytosis with erythroblastosis that disappeared... more
We report an atypical case of congenital erythroleukemia in a child born with hepatosplenomegaly and abnormal liver tests. The initial peripheral blood cell count showed anemia and hyperleukocytosis with erythroblastosis that disappeared 1 week later. During the next 5 weeks, no blasts were found in the blood, and less than 5% were found on 2 successive bone marrow aspirates. The infant died of hepatic failure. The suspected diagnosis on a premortem liver biopsy was confirmed by an autopsy that showed a blastic infiltration in many organs. These cells expressed only erythroid markers glycophorin A and C. Rearrangement of the myeloid lymphoid leukemia gene was not found by fluorescence in situ hybridization. The main differential diagnoses include metabolic diseases, Langerhans histiocytosis, Pepper syndrome, transient myeloproliferative disorder, and leukemoid reactions. Although some of these can be excluded by the pathologist, others require a multidisciplinary confrontation: clin...
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Smooth-muscle tumors, benign and malignant, are increasingly recognized in children who are immunocompromised because of HIV infection and organ transplantation. We report a case of an EBV-associated smooth-muscle tumor, of unusual... more
Smooth-muscle tumors, benign and malignant, are increasingly recognized in children who are immunocompromised because of HIV infection and organ transplantation. We report a case of an EBV-associated smooth-muscle tumor, of unusual location arising in a seven-year-old post-transplant patient who was previously treated for a lymphoproliferative disease. Five years after liver transplantation, a mesenteric tumor was diagnosed. The tumor was composed of spindle cells with smooth-muscle features. Immunohistochemical analysis was positive for muscle-specific actin and desmin, negative for EBV latent membrane protein (LMP-1). In situ hybridization revealed nuclear EBV sequences. This case underlines the role of EBV infection in the development of unusual smooth-muscle tumors after organ transplantation. The evolution of these rare tumors is uncertain.
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... q12). To our knowledge, no report of DSRCT with molecular confirmation on cytologic material has been reported before. CASE: Fine needle aspiration (FNA) was performed on an intraabdominal mass in a 37-year-old man. A ...
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Testicular morphology and immunohistochemical studies have never been reported in genetically documented adult patients with 5 alpha-reductase type 2 deficiency (5α-R2 deficiency). We describe the testicular histopathology of a... more
Testicular morphology and immunohistochemical studies have never been reported in genetically documented adult patients with 5 alpha-reductase type 2 deficiency (5α-R2 deficiency). We describe the testicular histopathology of a 17-year-old XY subject with 5α-R2 deficiency caused by the recurrent homozygous Gly115Asp loss of function mutation of the SRD5A2 gene.We also performed an immunohistochemical analysis in order to further study the relationship between seminiferous tubules structure, Sertoli cell differentiation and androgenic signaling impairment in this case. We thus evaluated the testicular expression of the anti-Müllerian hormone (AMH), androgen receptor (AR) and 3β-hydroxysteroid dehydrogenase (3βHSD). Histological analysis revealed a heterogeneous aspect with a majority (92%) of seminiferous tubules (ST) presenting a mature aspect but containing only Sertoli cells and devoid of germ cells and spermatogenesis. Focal areas of immature ST (8%) were also found. Testicular A...
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... Lazure, Thierry*; Ferlicot, Sophie*; Gauthier, Frédéric†; Doz, François‡; Couturier, Jérôme§; Fabre, Monique*; Bedossa, Pierre*. Article Outline. Collapse Box Author Information. ... Endoscopy showed an ulcerated tumor of the... more
... Lazure, Thierry*; Ferlicot, Sophie*; Gauthier, Frédéric†; Doz, François‡; Couturier, Jérôme§; Fabre, Monique*; Bedossa, Pierre*. Article Outline. Collapse Box Author Information. ... Endoscopy showed an ulcerated tumor of the posterior wall of the gastric body. ...
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... q12). To our knowledge, no report of DSRCT with molecular confirmation on cytologic material has been reported before. CASE: Fine needle aspiration (FNA) was performed on an intraabdominal mass in a 37-year-old man. A ...
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Research Interests: Case Report, Humans, Male, tESTIS, Phenotype, and 4 moreHuman reproduction, Genotype, Adult, and Spermatozoa
Since 1998 new entities have surfaced in renal tumor classification and have been included in the WHO 2004 classification. In this article, we will discuss the following entities: multilocular clear cell renal carcinoma, Xp11... more
Since 1998 new entities have surfaced in renal tumor classification and have been included in the WHO 2004 classification. In this article, we will discuss the following entities: multilocular clear cell renal carcinoma, Xp11 translocation carcinoma, low grade mucinous tubular carcinoma, epithelioid angiomyolipoma, benign mixed epithelial and stromal tumor. We will investigate new concepts of hybrid oncocytoma and chromophobe renal cell carcinoma and the syndrome of Birt-Hogg-Dube which is associated to kidney tumors. At least, we will touch on new elements in the Bellini carcinoma definition.
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Angiomyofibroblastoma of the scrotum is a rare and benign tumour which affect old patient. It's treatment is surgical. A case of angiomyofibroblastoma of the scrotum is... more
Angiomyofibroblastoma of the scrotum is a rare and benign tumour which affect old patient. It's treatment is surgical. A case of angiomyofibroblastoma of the scrotum is reported in a 34 years old man. The literature is reviewed with special reference to the ethiopathogenesis, clinical features and treatment of this tumour entity.
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Clear cell sarcoma (malignant melanoma of soft parts) is a rare malignancy that is found in the young adult, and is generally located in the extremities of the limbs. In this study, a new case has been reported in a 24-year old male with... more
Clear cell sarcoma (malignant melanoma of soft parts) is a rare malignancy that is found in the young adult, and is generally located in the extremities of the limbs. In this study, a new case has been reported in a 24-year old male with no previous history of cutaneous melanoma. The tumor consisted of fusiform or round cells with clear or granulocytic cytoplasm and vesicular nuclei. The patient was treated by surgical resection of the tumor and postoperative radiotherapy. Eight years later, metastatic nodes were detected in the inguinal region. The histogenesis of this tumor has not yet been determined, and it poses a diagnostic problem for pathologists as it can be mistaken for a malignant metastatic cutaneous melanoma.
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Pathogenesis of malignancies in patients with polycystic kidney disease (PKD) is not clearly understood. Epidermal growth factor receptor (EGF-r) production by mature kidney plays a role in promotion of epithelial hyperplasia and cyst... more
Pathogenesis of malignancies in patients with polycystic kidney disease (PKD) is not clearly understood. Epidermal growth factor receptor (EGF-r) production by mature kidney plays a role in promotion of epithelial hyperplasia and cyst formation, its involvement in further progression is however not proven. Ki-67 is a marker for cellular proliferation. We assessed immunohistochemical expression of EGF-r and Ki-67 in epithelium
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Phyllodes tumours of the prostate are very rare tumours, as less than 40 cases have been reported in the literature. The authors report the case of a 28-year-old man managed for a phyllodes tumour of the prostate diagnosed in a context of... more
Phyllodes tumours of the prostate are very rare tumours, as less than 40 cases have been reported in the literature. The authors report the case of a 28-year-old man managed for a phyllodes tumour of the prostate diagnosed in a context of haemospermia. The diagnosis was established by ultrasound, CT MRI and prostatic biopsies. Radical prostatectomy was performed after multidisciplinary discussion. Thirty six months after the operation, the patient was in complete remission, with spontaneous erections and had fathered a child conceived by medically assisted procreation. The authors stress the importance of nerve-sparing radical surgery and early sexual rehabilitation.
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Dystroglycan is a membrane component of the dystrophin-glycoprotein transmembrane complex. Its expression is required for the spatial organization of laminin on the cell surface and for basement membrane assembly. In view of the... more
Dystroglycan is a membrane component of the dystrophin-glycoprotein transmembrane complex. Its expression is required for the spatial organization of laminin on the cell surface and for basement membrane assembly. In view of the constitution of a perisinusoidal basement membrane during liver fibrosis, we studied dystroglycan expression in liver fibrosis. Dystroglycan mRNA and protein expression were investigated by immunofluorescence, Western blot, and quantitative RT-PCR (TaqMan) in normal human and rat liver and in isolated rat hepatic stellate cells. On Western blot, a 43-kd band corresponding to beta-dystroglycan was observed in protein extracted from normal and fibrotic human and rat livers. The specific 43-kd protein was also detected in lysates from rat hepatic stellate cells but not from hepatocytes. By immunofluorescence, patchy deposits of beta-dystroglycan were detected on membrane of hepatic stellate cells in culture. On Western blot and quantitative RT-PCR, an up-regula...
Research Interests: Calcium, Humans, Liver Cirrhosis, Liver, Animals, and 4 moreMale, Laboratory, Clinical Sciences, and Rats
ABSTRACT Phyllodes tumours of the prostate are very rare tumours, as less than 40 cases have been reported in the literature. The authors report the case of a 28-year-old man managed for a phyllodes tumour of the prostate diagnosed in a... more
ABSTRACT Phyllodes tumours of the prostate are very rare tumours, as less than 40 cases have been reported in the literature. The authors report the case of a 28-year-old man managed for a phyllodes tumour of the prostate diagnosed in a context of haemospermia. The diagnosis was established by ultrasound, CT, MRI and prostatic biopsies. Radical prostatectomy was performed after multidisciplinary discussion. Thirty six months after the operation, the patient was in complete remission, with spontaneous erections and had fathered a child conceived by medically assisted procreation. The authors stress the importance of nerve-sparing radical surgery and early sexual rehabilitation.
Sickle cell disease (SCD) is an increasing cause of chronic kidney disease, but the spectrum of glomerular lesions and their underlying mechanisms remain poorly described. We reviewed 18 renal biopsies from patients with SCD and... more
Sickle cell disease (SCD) is an increasing cause of chronic kidney disease, but the spectrum of glomerular lesions and their underlying mechanisms remain poorly described. We reviewed 18 renal biopsies from patients with SCD and glomerular involvement and studied the expression of hypoxic markers in the biopsy specimens. Four histopathologic variants were distinguished: focal segmental glomerulosclerosis (FSGS) (39%), membranoproliferative glomerulonephritis (28%), thrombotic microangiopathy glomerulopathy (17%), and specific sickle cell disease glomerulopathy (17%). Chronic organ damage and history of acute chest syndrome were associated with the occurrence of SCD glomerulopathy. All patients exhibited macroalbuminuria but only 6 patients displayed impaired renal function. SCD was not associated with a specific FSGS histologic variant. Long-term follow-up analysis revealed that 50% of patients exhibited chronic kidney disease. Regardless of the histologic variants, immunohistochemistry did not reveal a specific induction of hypoxic markers (inducible nitric oxide synthase [iNOS], nitrotyrosine, hypoxia-inducible factor [HIF]-1 alpha) at the time of renal biopsy. This large study shows that a wide spectrum of glomerular lesions is associated with SCD. Whatever lesions are observed, the renal prognosis is poor, and early renoprotective treatment is necessary. Hypoxic state does not seem to play a key role in the progression of glomerular lesions, but its potential role at an early stage of glomerular injury requires further investigation.