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Francisco F Nogales - One of the best experts on this subject based on the ideXlab platform.
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microscopic tubal sex cord proliferations with a Sertoli Cell Tumour pattern and ovarian type stromal transformation of the fimbriae
Histopathology, 2017Co-Authors: Vicente Crespolora, Nelly Cruzviruel, Margherita Goia, Silvia Chiarelli, Francisco F NogalesAbstract:A recent paper1 reported microscopic nodules of sex-cord stromal proliferations mimicking adult granulosa Cell and sex-cord Tumour with annular tubules in extraovarian locations. However, Sertoli Cell Tumour patterns were not described in them. We add two cases of multiple, microscopic foci of differentiated Sertoli Cell proliferation in the fallopian tube, one of which coexisted and merged with areas of fimbrial ectopic ovarian-like stroma. Both cases were incidental findings in the fallopian tubes from 42 and 35 year-old patients, operated respectively for uterine leiomyoma and ovarian grade 1 endometrioid carcinoma. Both were recent cases with short follow-up. This article is protected by copyright. All rights reserved.
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large Cell calcifying Sertoli Cell Tumour of the testis
Histopathology, 1995Co-Authors: C Plata, F Algaba, Miguel Andujar, M Nistal, P Stocks, J L Martinez, Francisco F NogalesAbstract:Five cases of large Cell calcifying Sertoli Cell Tumour of the testis not associated with complex dysplastic syndromes are reported. The age of the patients ranged from 13 to 34 years and all the Tumours were histologically similar, having large, isomorphic, non-mitotic, eosinophilic Sertoli Cells with foci of calcification. Flow cytometry demonstrated the Cells to be diploid or hypodiploid. All cases were positive for vimentin and focally positive for low molecular weight keratin. The present cases, together with a review of the 22 previously reported Tumours, demonstrate that there are two clear cut types of large Cell calcifying Sertoli Cell Tumour; those which are associated with complex dysplastic syndromes and which are bilateral and multifocal, and those which are not associated and are unilateral and focal. Prognosis in all of our cases was uniformly good despite invasion of the rete testis in two cases. It is considered that conservative resection of the Tumour is the treatment of choice in cases not associated with complex dysplastic syndromes, since the malignancy rate is low.
Orlando Paciello - One of the best experts on this subject based on the ideXlab platform.
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a multicancer like syndrome in a dog characterized by p53 and Cell cycle checkpoint kinase 2 chk2 mutations and sirtuin gene sirt1 down regulation
Research in Veterinary Science, 2012Co-Authors: Gabriella Marfe, Marco Tafani, M Irnoconsalvo, M P Pasolini, Luigi Navas, Alessandra Gambacurta, L. Martino, Serenella Papparella, Orlando PacielloAbstract:Abstract Introduction We have investigated SIRT1, p53 and Cell cycle-checkpoint kinase 2 (CHK2) gene dysfunction in a dog with a multicancer syndrome-like in order to evaluate their potential role in the determinism of the disease and to establish a possible correlation between SIRT1 transcript level and p53 expression status. Material and methods Blood sample and Tumour samples from a pure breed English Setter dog with different Tumours were used for this study. Nucleotide sequence analysis was performed with a DNA autosequencer in order to examine p53 and CHK2 mutations. In addition, the expression level of SIRT1 was quantified by Southern Blot analysis of Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR). Results Cytological examination revealed five different Tumours: a cutaneous sebaceous epithelioma, a cutaneous mast Cell Tumour, a testicular Sertoli Cell Tumour, an oral malignant melanoma, and a cutaneous squamous Cell carcinoma. Sequencing analysis revealed the presence of a nucleotide substitution, (CGG > CAG) exon 7 of the p53 gene in DNA from peripheral blood mononuclear Cells (PBMCs) as well as in the melanoma; whereas the other four cancers showed the loss of the wild-type allele. Furthermore, CHK2 mutation at codon 311 has been identified in the melanoma and sebaceous epithelioma. In addition, SIRT1 cDNA expression decreased in all Tumour samples compared to cDNA SIRT1expression level in peripheral blood mononuclear Cells (PBMCs) in the same dog. Conclusions These results suggest that the germ line mutation of the p53 gene at codon 248 might be, at least, one cause of the multicancer syndrome-like in our dog; furthermore, we show a possible correlation between SIRT1 transcript level and p53 mutations status. The regulatory role of SIRT1 in Tumour suppressor pathways suggests that the net effect seen may represent both direct and indirect downstream regulation and it is likely to depend on the presence or absence of functional p53.
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A multicancer-like syndrome in a dog characterized by p53 and Cell cycle-checkpoint kinase 2 (CHK2) mutations and Sirtuin gene (SIRT1) down-regulation
'Elsevier BV', 2012Co-Authors: Gabriella Marfe, Marco Tafani, M P Pasolini, Luigi Navas, Alessandra Gambacurta, L. Martino, Serenella Papparella, M. Irno-consalvo, Orlando PacielloAbstract:Introduction: We have investigated SIRT1, p53 and Cell cycle-checkpoint kinase 2 (CHK2) gene dysfunction in a dog with a multicancer syndrome-like in order to evaluate their potential role in the determinism of the disease and to establish a possible correlation between SIRT1 transcript level and p53 expression status. Material and methods: Blood sample and Tumour samples from a pure breed English Setter dog with different Tumours were used for this study. Nucleotide sequence analysis was performed with a DNA auto-sequencer in order to examine p53 and CHK2 mutations. In addition, the expression level of SIRT1 was quantified by Southern Blot analysis of Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR). Results: Cytological examination revealed five different Tumours: a cutaneous sebaceous epithelioma, a cutaneous mast Cell Tumour, a testicular Sertoli Cell Tumour, an oral malignant melanoma, and a cutaneous squamous Cell carcinoma. Sequencing analysis revealed the presence of a nucleotide substitution, (CGG > CAG) exon 7 of the p53 gene in DNA from peripheral blood mononuclear Cells (PBMCs) as well as in the melanoma; whereas the other four cancers showed the loss of the wild-type allele. Furthermore, CHK2 mutation at codon 311 has been identified in the melanoma and sebaceous epithelioma. In addition, SIRT1 cDNA expression decreased in all Tumour samples compared to cDNA SIRT1 expression level in peripheral blood mononuclear Cells (PBMCs) in the same dog. Conclusions: These results suggest that the germ line mutation of the p53 gene at codon 248 might be, at least, one cause of the multicancer syndrome-like in our dog; furthermore, we show a possible correlation between SIRT1 transcript level and p53 mutations status. The regulatory role of SIRT1 in Tumour suppressor pathways suggests that the net effect seen may represent both direct and indirect downstream regulation and it is likely to depend on the presence or absence of functional p53. (C) 2011 Elsevier Ltd. All rights reserved
Sara O Vargas - One of the best experts on this subject based on the ideXlab platform.
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large Cell calcifying Sertoli Cell Tumour a contemporary multi institutional case series highlighting the diagnostic utility of prkar1a immunohistochemistry
Histopathology, 2021Co-Authors: William J Anderson, Jennifer B Gordetsky, Muhammad T Idrees, Khaleel I Alobaidy, Chia Sui Kao, Kristine M Cornejo, Sara E Wobker, John C Cheville, Sara O VargasAbstract:AIMS Large Cell calcifying Sertoli Cell Tumour (LCCSCT) is a rare testicular sex cord-stromal Tumour that primarily affects young patients and is associated with Carney complex. We sought to characterize the clinicopathological features of a series of LCCSCT and evaluate the diagnostic utility of PRKAR1A immunohistochemistry (IHC). METHODS AND RESULTS The LCCSCT cohort (n=15) had a median age of 16 years (range: 2-30 years). Four patients were known to have Carney complex. PRKAR1A IHC was performed in each case. For comparison, PRKAR1A IHC was also assessed in other sex cord-stromal Tumours, including Sertoli Cell Tumour, not otherwise specified (SCT, NOS; n=10), intratubular large Cell hyalinizing Sertoli Cell Tumour (n=1), and Leydig Cell Tumour (n=23). Loss of cytoplasmic PRKAR1A expression was observed in all but one LCCSCT (14/15; 93%). PRKAR1A expression was retained in all SCTs, NOS (10/10; 100%), the majority of Leydig Cell Tumours (22/23; 96%), and an intratubular large Cell hyalinizing Sertoli Cell Tumour (1/1; 100%). One Leydig Cell Tumour showed equivocal staining (multifocal weak expression). CONCLUSIONS Overall, PRKAR1A loss is both sensitive (93%) and highly specific (97%) for the diagnosis of LCCSCT. PRKAR1A loss may aid its diagnosis, particularly in sporadic cases and those that are the first presentation of Carney complex.
Johan J P Gille - One of the best experts on this subject based on the ideXlab platform.
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germline mutation in the stk11 gene in a girl with an ovarian Sertoli Cell Tumour
European Journal of Pediatrics, 2007Co-Authors: Guy Massa, Nele Roggen, Marleen Renard, Johan J P GilleAbstract:An ovarian Sertoli Cell Tumour was detected in a 4-year-old girl with gonadotrophin-independent precocious puberty. Such gonadal Tumours can be associated with Peutz-Jeghers syndrome, caused by mutations in the STK11 gene. We have therefore sequenced the STK11 gene. Mutation analysis revealed a nonsense mutation in exon 1 (c.130A>T;p.Lys44X) of the SKT11 gene, which resulted in a truncated, inactive protein. The mutation was heterozygous in patient’s lymphocytes and almost homozygous in the Tumour, indicating loss of heterozygosity. This is the first report of a STK11 germline mutation in a girl with an ovarian Sertoli Cell Tumour. It remains to be shown whether this particular mutation predisposes the patient to the development of ovarian Tumours.
Gabriella Marfe - One of the best experts on this subject based on the ideXlab platform.
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a multicancer like syndrome in a dog characterized by p53 and Cell cycle checkpoint kinase 2 chk2 mutations and sirtuin gene sirt1 down regulation
Research in Veterinary Science, 2012Co-Authors: Gabriella Marfe, Marco Tafani, M Irnoconsalvo, M P Pasolini, Luigi Navas, Alessandra Gambacurta, L. Martino, Serenella Papparella, Orlando PacielloAbstract:Abstract Introduction We have investigated SIRT1, p53 and Cell cycle-checkpoint kinase 2 (CHK2) gene dysfunction in a dog with a multicancer syndrome-like in order to evaluate their potential role in the determinism of the disease and to establish a possible correlation between SIRT1 transcript level and p53 expression status. Material and methods Blood sample and Tumour samples from a pure breed English Setter dog with different Tumours were used for this study. Nucleotide sequence analysis was performed with a DNA autosequencer in order to examine p53 and CHK2 mutations. In addition, the expression level of SIRT1 was quantified by Southern Blot analysis of Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR). Results Cytological examination revealed five different Tumours: a cutaneous sebaceous epithelioma, a cutaneous mast Cell Tumour, a testicular Sertoli Cell Tumour, an oral malignant melanoma, and a cutaneous squamous Cell carcinoma. Sequencing analysis revealed the presence of a nucleotide substitution, (CGG > CAG) exon 7 of the p53 gene in DNA from peripheral blood mononuclear Cells (PBMCs) as well as in the melanoma; whereas the other four cancers showed the loss of the wild-type allele. Furthermore, CHK2 mutation at codon 311 has been identified in the melanoma and sebaceous epithelioma. In addition, SIRT1 cDNA expression decreased in all Tumour samples compared to cDNA SIRT1expression level in peripheral blood mononuclear Cells (PBMCs) in the same dog. Conclusions These results suggest that the germ line mutation of the p53 gene at codon 248 might be, at least, one cause of the multicancer syndrome-like in our dog; furthermore, we show a possible correlation between SIRT1 transcript level and p53 mutations status. The regulatory role of SIRT1 in Tumour suppressor pathways suggests that the net effect seen may represent both direct and indirect downstream regulation and it is likely to depend on the presence or absence of functional p53.
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A multicancer-like syndrome in a dog characterized by p53 and Cell cycle-checkpoint kinase 2 (CHK2) mutations and Sirtuin gene (SIRT1) down-regulation
'Elsevier BV', 2012Co-Authors: Gabriella Marfe, Marco Tafani, M P Pasolini, Luigi Navas, Alessandra Gambacurta, L. Martino, Serenella Papparella, M. Irno-consalvo, Orlando PacielloAbstract:Introduction: We have investigated SIRT1, p53 and Cell cycle-checkpoint kinase 2 (CHK2) gene dysfunction in a dog with a multicancer syndrome-like in order to evaluate their potential role in the determinism of the disease and to establish a possible correlation between SIRT1 transcript level and p53 expression status. Material and methods: Blood sample and Tumour samples from a pure breed English Setter dog with different Tumours were used for this study. Nucleotide sequence analysis was performed with a DNA auto-sequencer in order to examine p53 and CHK2 mutations. In addition, the expression level of SIRT1 was quantified by Southern Blot analysis of Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR). Results: Cytological examination revealed five different Tumours: a cutaneous sebaceous epithelioma, a cutaneous mast Cell Tumour, a testicular Sertoli Cell Tumour, an oral malignant melanoma, and a cutaneous squamous Cell carcinoma. Sequencing analysis revealed the presence of a nucleotide substitution, (CGG > CAG) exon 7 of the p53 gene in DNA from peripheral blood mononuclear Cells (PBMCs) as well as in the melanoma; whereas the other four cancers showed the loss of the wild-type allele. Furthermore, CHK2 mutation at codon 311 has been identified in the melanoma and sebaceous epithelioma. In addition, SIRT1 cDNA expression decreased in all Tumour samples compared to cDNA SIRT1 expression level in peripheral blood mononuclear Cells (PBMCs) in the same dog. Conclusions: These results suggest that the germ line mutation of the p53 gene at codon 248 might be, at least, one cause of the multicancer syndrome-like in our dog; furthermore, we show a possible correlation between SIRT1 transcript level and p53 mutations status. The regulatory role of SIRT1 in Tumour suppressor pathways suggests that the net effect seen may represent both direct and indirect downstream regulation and it is likely to depend on the presence or absence of functional p53. (C) 2011 Elsevier Ltd. All rights reserved
