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ABSTRACT: Renal lymphangiomatosis is an extremely rare disease characterized by developmental malformation of the lymphatic system surrounding the kidneys. We present the case of a 22-year-old pregnant female discovered because of worsening. Ultrasound, computed tomography, and magnetic resonance imaging studies were performed. An 18 × 11 × 10 cm voluminous cystic subcapsular lesion compressing the left kidney and subcapsular cysts of the right kidney were found. After the delivery, marsupialization was performed and the pathological analysis confirmed the diagnosis of lymphangiomatosis. A review of the literature is proposed.
Abdominal Imaging 01/2013; · 1.73 Impact Factor
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M Grynberg,
N Chevalier,
A Mesner,
L Rocher,
N Prisant,
S Madoux,
E Feyereisen, S Ferlicot,
R Fanchin,
R Frydman,
N Frydman,
V Izard
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ABSTRACT: Analyzing the results and validating the procedure of testicular sperm extraction (TESE) performed on the day of oocyte retrieval in non obstructive azoospermia (NOA) patients.
Sixty TESE were performed on the day of oocyte retrieval (dOR), in 52 NOA men. Patients were sorted into three groups according to the results of the surgical procedure: 1: sperm recovery with possible sperm freezing (n=20); 2: sperm recovery without freezing (n=27); 3: "negative" biopsy (n=13). ICSI outcomes in the two groups with sperm recovery were compared to those of ICSI performed with frozen-thawed sperm obtained from TESE performed (n=13).
The rate of positive sperm retrieval was 78%. While the overall clinical pregnancy rate was 50%, no difference in the fertilization, implantation and clinical pregnancy rates was found in the two groups with positive sperm retrieval as compared to frozen-thawed sperm group. Twelve pregnancies were obtained in patients without further sperm cryopreservation.
After TESE in NOA men, cryopreserved sperm produced comparable results with freshly obtained sperm. However, TESE performed on dOR can offer the opportunity, in patients with rare sperm that might not survive freeze-thaw, to have a possible fresh embryo transfer. Couples should be counselled regarding the possibility of oocyte retrieval without sperm for ICSI.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 12/2010; 40(2):130-6. · 0.42 Impact Factor
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ABSTRACT: Renal oncocytoma represent 5% of kidney tumors. Oncocytoma is a benign tumor, usually asymptomatic and fortuitous discovery. Standard treatment is tumorectomy when technically feasible. Surgery is indicated when oncocytoma becomes symptomatic, large or grows quickly. In a small proportion of cases, oncocytomas are bilateral and/or multifocal. These forms are most often sporadic or are integrated in the Birt-Hogg-Dube syndrome. We report here the case of a patient suffering from renal oncocytosis responsible for a diffuse renal involvement by numerous oncocytic nodules.
Progrès en Urologie 03/2009; 19(2):142-4. · 0.58 Impact Factor
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S Gad,
S H Lefèvre,
S K Khoo,
S Giraud,
A Vieillefond,
V Vasiliu, S Ferlicot,
V Molinié,
Y Denoux,
N Thiounn,
Y Chrétien,
A Méjean,
M Zerbib,
G Benoît,
J M Hervé,
G Allègre,
B Bressac-de Paillerets,
B T Teh,
S Richard
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ABSTRACT: BHD, TP53, and HNF1beta on chromosome 17 were studied in 92 cases of renal cell carcinoma (46 chromophobe, 19 clear cell, 18 oncocytoma, and nine papillary). Six, thirteen, and zero cases had, respectively BHD, TP53, and HNF1beta mutations, (84% mutations involved chromophobe), suggesting a role for BHD and TP53 in chromophobe subtype.
British Journal of Cancer 02/2007; 96(2):336-40. · 5.04 Impact Factor
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S Gad,
S H Lef|[egrave]|vre,
S K Khoo,
S Giraud,
A Vieillefond,
V Vasiliu, S Ferlicot,
V Molini|[eacute,
Y Denoux,
N Thiounn,
Y Chr|[eacute]|tien,
A M|[eacute]|jean,
M Zerbib,
G Beno|[icirc]|t,
J M Herv|[eacute,
G All|[egrave]|gre,
B Bressac-de Paillerets,
B T Teh,
S Richard
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ABSTRACT: Materials and methods Results and discussion References Acknowledgements Figures and TablesBHD, TP53, and HNF1 on chromosome 17 were studied in 92 cases of renal cell carcinoma (46 chromophobe, 19 clear cell, 18 oncocytoma, and nine papillary). Six, thirteen, and zero cases had, respectively BHD, TP53, and HNF1 mutations, (84% mutations involved chromophobe), suggesting a role for BHD and TP53 in chromophobe subtype.Keywords: chromophobe renal cell carcinoma, BHD, TP53, HNF1, mutation, polymorphism
British Journal of Cancer 11/2006; 96(2):336-340. · 5.04 Impact Factor
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Histopathology 09/2005; 47(2):218-9. · 3.08 Impact Factor
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ABSTRACT: (Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year old male with azoospermia was found to have a mosaic 45,X/46,X, + mar karyotype. Fluorescence in situ hybridization (FISH) showed the presence of a derivative Y chromosome containing the short arm, the centromere and a small proximal part of the long-arm euchromatin of the Y chromosome and the long arm of chromosome 22. The unstable small marker chromosome included the short arm and the centromere of chromosome 22. This unbalanced translocation t(Y;22)(q11.2;q11.1) generated the loss of the long arm of the Y chromosome involving a large part of AZFb, AZFc and Yq heterochromatin regions. Testicular tissue analyses showed sperm in the wet preparation. Our case shows the importance of documenting (Y;autosome) translocations with molecular and testicular tissue analyses.
Human Reproduction 09/2005; 20(8):2168-72. · 4.47 Impact Factor
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ABSTRACT: The aim of this study was to determine whether the metastatic potential of breast cancer could be related to phenotypic characteristics of the tumour. Therefore, we compared the metastatic patterns of invasive lobular (ILC) and ductal (IDC) carcinomas. In ILC, we also analysed this pattern according to the histological subtype of the primary and the E-cadherin (EC) expression level. Metastatic ILC cases (n=96) were retrospectively analysed and classified into classical, alveolar, solid, tubulo-lobular, signet ring cells or pleomorphic subtypes. Anatomical distribution of metastases was detailed for every patient and compared with that registered for IDC (n=2749). Immunostaining of EC (HECD1 antibody) was performed in 82 cases. Histologically, 78 of the 96 cases (81%) corresponded to classical ILC. The pleomorphic subtype was observed in 14 cases (15%), a rate that was higher than that expected. Others corresponded to alveolar (2 cases), signet ring cell (1 case) and solid (1 case) subtypes. EC was undetectable in 72/82 cases (88%). The rate of multiple metastases was higher in ILC (25.0%) than in IDC (15.8%) (P=0.016). Metastases were found more frequently in ILC than in IDC in the bone (P=0.02) and/or in various other sites (peritoneum, ovary, digestive tract, skin em leader ) (P<0.001). In ILC, no significant link was found between the localisation(s) of metastases, the histological subtype and the EC status in the primary. In conclusion, in breast carcinomas, the frequency of multiple metastasis was found to be higher in ILC than IDC. This fact may be related to the phenotypic trait of discohesive small cells which characterises ILC. EC loss, observed in most cases of ILC, may result in alterations in cell-cell adhesion and a preferential growth at metastatic sites. A high rate of pleomorphic tumours was observed in the group of metastatic ILC, but the pattern of metastatic site(s) was not related to the histological subtype of the primary.
European Journal of Cancer 02/2004; 40(3):336-41. · 5.54 Impact Factor
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P Eschwège, S Ferlicot,
S Droupy,
N Ba,
M Conti,
S Loric,
G Coindard,
I Denis,
L Ferretti,
A Cornelius,
A Legrand,
P Bedossa,
G Benoît,
A Jardin,
P Scardino
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ABSTRACT: The pattern of arachidonate acid (AA) transformation in tumor cells has been shown to play a role in determining tumor cell invasiveness. AA is released from membrane phospholipids by cPLA(2). Then it is metabolized into prostaglandins and PGE(2) especially via cyclooxygenase pathways. PGE(2) production seems to be necessary for rendering the cells invasive. We aimed to characterize cPLA(2), cyclooxygenase 2 (COX2) and prostaglandine E synthase (PGES) expression in human transitional carcinoma (TCC) of the urinary bladder and correlate with the Ki-67 proliferating marker.
Formalin-fixed human TCC tissues (n=54) obtained from TURB or cystectomies were evaluated for cPLA(2), COX2, PGES and Ki-67 expression using specific antibodies. There were 6 CIS, 9 pTaG1, 9 pTaG3, 10 pT1G3 and 10 pT2G3. 10 normal bladder tissues were also evaluated. Control slides were incubated without primary antibodies and treated in a similar way.
cPLA(2), COX2 and PGES were not expressed in the 10 normal tissues. In the same normal tissues, Ki-67 expression was observed only in 1% of the cells. However, cPLA(2) was expressed in 1/6 CIS, 1/9 pTaG1, 3/9 pTaG3, 6/10 pT1G3 and 2/10 pT2G3. COX2 was expressed in 0/6 CIS, 0/10 pTaG1, 2/9 pTaG3, 3/10 pT1G3 and 1/10 pT2G3. PGES was expressed in 4/6 CIS, 0/9 pTaG1, 4/9 pTaG3, 2/10 pT1G3 and 5/10 pT2G3. Ki-67 expression was 39.5% for CIS, 6.5% in pTaG1, 37% in pTaG3, 34.5% in pT1G3 and 55% in pT2G3. If we consider it a positive result when at least one enzyme was expressed, there were 5/6 CIS positive, 1/9 pTaG1 positive, 9/9 pTaG3 positive, 10/10 pT1G3 positive and 10/10 pT2G3 positive. Also the Ki-67 is more often expressed in cells with high grade tumor.
These results suggest that (i). not only COX2 is involved in the tumorogenesis of the TCC but also cPLA(2) and PGES, (ii). there is relationship between the AA metabolic PGE(2) pathway expression and the aggressiveness of the TCC of the urinary bladder.
European Urology 11/2003; 44(4):435-41. · 8.49 Impact Factor
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S K Khoo,
S Giraud,
K Kahnoski,
J Chen,
O Motorna,
R Nickolov,
O Binet,
D Lambert,
J Friedel,
R Lévy, S Ferlicot,
P Wolkenstein,
P Hammel,
U Bergerheim,
M-A Hedblad,
M Bradley,
B T Teh,
M Nordenskjöld,
S Richard
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ABSTRACT: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and spontaneous pneumothorax. The gene has been mapped to chromosome 17p11.2 and recently identified, expressing a novel protein called folliculin. We report the clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects. Haplotype analysis of these families using BHD linked markers showed they did not share the same affected alleles, excluding common ancestry. Mutation analysis of the BHD gene identified two germline mutations on exon 11 (c.1733insC and c.1733delC) in three of four families as well as two of four sporadic cases. A novel somatic mutation, c.1732delTCinsAC, was detected in a BHD related chromophobe renal carcinoma. Our results confirmed the (C)8 tract in exon 11 as a mutational hot spot in BHD and should always be considered for future genetic testing. Our observation also indicated that the second hit (of Knudson's two hit theory) in some BHD related tumours is in the form of somatic mutation rather than LOH. In a large French family in which eight affected subjects carry the c.1733delC mutation, a phenocopy who has multiple episodes of spontaneous pneumothorax was identified. A total of five mutation carriers (aged between 37 to 66) did not have any evidence of BHD features, suggesting either reduced penetrance or late age of onset of the disease. In addition, six out of eight affected subjects who have positive germline mutation have confirmed neoplastic colonic polyps, indicating that colorectal neoplasia is an associated feature of BHD in some families. Our studies have observed several interesting genetic features in BHD: (1) the poly (C) tract in exon 11 as a mutational hot spot; (2) the existence of phenocopy; (3) reduced penetrance or late age of onset of disease; (4) association with colorectal neoplasia in some families; and (5) somatic mutation instead of LOH as the second hit in BHD tumours.
Journal of Medical Genetics 01/2003; 39(12):906-12. · 6.36 Impact Factor
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M A A Slimane, S Ferlicot,
M Conti,
S Droupy,
C Cosson,
V Paradis,
S Loric,
P Bedossa,
F Gauthier,
A Legrand,
G Benoît,
P Eschwège
Transplantation Proceedings 12/2002; 34(7):2841-2. · 1.00 Impact Factor
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P Eschwège,
S Droupy,
M Conti, S Ferlicot,
V Paradis,
S Loric,
P Bedossa,
J Duranteau,
A Durrbach,
A Legrand,
B Charpentier,
G Benoît
Transplantation Proceedings 12/2002; 34(7):2840. · 1.00 Impact Factor
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V Paradis,
I Bièche,
D Dargère,
F Bonvoust, S Ferlicot,
M Olivi,
N B Lagha,
P Blanchet,
G Benoît,
M Vidaud,
P Bedossa
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ABSTRACT: Human telomerase is a specialized reverse transcriptase that catalyses telomeric repeat addition at the ends of chromosomes. Activation of this enzyme is one of the key steps in cell immortalization and carcinogenesis, and one of its components, hTERT, is considered as the rate-limiting factor. While telomerase activity was found to be prognostically relevant in various cancers, results obtained from renal cell carcinomas (RCC) failed to show any correlation with the usual prognostic factors. The aim of the study was to reassess the role of telomerase and its hTERT component in the biological behaviour of RCC using new quantitative techniques, such as the quantitative evaluation of hTERT mRNA level by a real-time RT-PCR procedure and the measuring of telomerase activity by an ELISA TRAP assay. Since experimental evidence supports a relationship between cell proliferation or c-myc expression and telomerase, the proliferation index and c-myc mRNA levels were also studied. Forty-one RCC (29 conventional renal cell carcinomas (CRCC), 10 papillary RCC and two urothelial carcinomas) were studied. In 73% of cases, normalized hTERT mRNA expression was significantly higher in the tumour sample than in the normal tissue. Telomerase activity was detected in 63% of RCC, while corresponding normal tissue was always negative. Analysis of correlations showed firstly that both telomerase activity and hTERT mRNA level were lower in the group of CRCC versus non-CRCC (TRAP: 0.3+/-0.1 versus 0.6+/-0.2, p<0.05; hTERT/PO mRNA: 5+/-3 versus 37+/-8, p<0.001, respectively); secondly, that in the group of CRCC, hTERT mRNA expression level was correlated with the stage of the tumour (p=0.01); and thirdly, that no correlation was observed between c-myc mRNA level and hTERT mRNA level. In conclusion, these results support the involvement of telomerase in RCC and the potential interest of hTERT mRNA quantification.
The Journal of Pathology 09/2001; 195(2):209-17. · 6.32 Impact Factor
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ABSTRACT: Telomerase enzymatic activity has been detected in most human malignant tumours including hepatocellular carcinoma. In order to assess the cellular source, the topographic distribution, and the chronology of telomerase re-expression during human liver carcinogenesis, an in situ technique derived from the standard TRAP (telomeric repeat amplification protocol) assay was set up that allowed the detection of telomerase enzyme activity at the cellular level on frozen liver tissue sections. In situ TRAP (ISTRAP) was performed on 27 hepatocellular carcinomas (HCCs) and 57 non-tumour livers, including normal liver without HCC, liver samples adjacent to tumour with and without hepatic cirrhosis, and biopsies of chronic hepatitis. In HCC, telomerase was detected in the nuclei of liver tumour cells in 23/27 cases (85%), with a heterogeneous distribution within the tumour. This signal was also detected in clusters of hepatocytes in 16/26 (61%) samples of liver adjacent to HCC, in 10/23 (43%) cases of chronic viral hepatitis without adjacent HCC, and in scattered nuclei of 2/8 histologically normal livers. Comparison of the results obtained with ISTRAP and standard TRAP assays on tissue extracts suggests a gain in sensitivity with the in situ technique. This study confirms that telomerase is expressed in most HCCs and suggests that focal telomerase reactivation is an early event during human liver carcinogenesis. ISTRAP is a sensitive technique that allows the study of telomerase expression in the morphological context.
The Journal of Pathology 09/2001; 194(4):459-65. · 6.32 Impact Factor
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Annales de Pathologie 07/2001; 21(3):267-8. · 0.25 Impact Factor
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ABSTRACT: Sarcomas of the breast are relatively rare and account for 1% of all primary malignant tumors of the breast. Only 4 cases of pure chondrosarcoma of the breast have been published. We report an additional case in a fifty-seven-year-old woman. Histological and immunohistological characteristics were similar to those described in other localizations. Differential diagnosis involves cystosarcoma phyllodes and breast metaplastic carcinoma with chondroid differentiation. The prognosis is likely to be the same as in other chondrosarcomas.
Annales de Pathologie 05/2001; 21(2):168-71. · 0.25 Impact Factor
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ABSTRACT: 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.
Annales de Chirurgie 04/2001; 126(2):152-5. · 0.35 Impact Factor
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ABSTRACT: 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.
Journal of Cutaneous Pathology 08/2000; 27(6):306-11. · 1.56 Impact Factor
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ABSTRACT: 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.
Annales de Pathologie 12/1999; 19(6):521-4. · 0.25 Impact Factor
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ABSTRACT: While telomerase is undetectable in most normal somatic tissues, telomerase activation has been detected in many immortal cell lines and various cancers.
To investigate telomerase expression in hepatocellular carcinoma, and to assess the expression of the RNA component of telomerase, hTR.
39 hepatocellular carcinomas were studied using a telomerase polymerase chain reaction (PCR) enzyme linked immunosorbent assay, which does not require radioactive PCR amplification and yields a semiquantitative measurement. Expression of hTR was also assessed by a non-radioactive in situ hybridisation procedure. The correlations between these two markers and the clinicopathological data were analysed.
Telomerase activity was detected in 23 of 39 hepatocellular carcinoma specimens (59%). Comparison of hepatocellular carcinoma with and without telomerase expression, or with high and low telomerase (10 cases v 13 cases), showed no differences in the principal clinicopathological data. Although median survival was lower in the group with detectable telomerase activity than in that with undetectable activity (510 v 720 days) the difference was not significant (log-rank test, p = 0.08). hTR expression was detected in 11 of 14 cases of hepatocellular carcinoma tested (78%) and in four of 12 samples of adjacent non-cancerous tissue (33%). Five tumours and four non-cancerous tissues were positive for hTR, whereas no telomerase activity was detected in these.
The presence of telomerase activity in hepatocellular carcinomas is confirmed. No correlation was observed between clinicopathological data and telomerase expression in hepatocellular carcinoma, but survival seemed better in the absence of telomerase expression. hTR seems to be more widely expressed than telomerase.
Journal of Clinical Pathology 11/1999; 52(10):725-9. · 2.31 Impact Factor
