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11دورية أكاديمية
المؤلفون: Chen, Cheng, Chu, Henry, Tso, Jason, Luthringer, Daniel J., Siegel, Robert
المصدر: CASE ; volume 1, issue 5, page 195-197 ; ISSN 2468-6441
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1016Test/j.case.2017.07.002
https://api.elsevier.com/content/article/PII:S2468644117300877?httpAccept=text/xmlTest
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12دورية أكاديمية
المؤلفون: Huang, Fangjin, Ma, Zhaoxuan, Pollan, Sara, Yuan, Xiaopu, Swartwood, Steven, Gertych, Arkadiusz, Rodriguez, Maria, Mallick, Jayati, Bhele, Sanica, Guindi, Maha, Dhall, Deepti, Walts, Ann E, Bose, Shikha, de Peralta Venturina, Mariza, Marchevsky, Alberto M, Luthringer, Daniel J, Feller, Stephan M, Berman, Benjamin, Freeman, Michael R, Alvord, W Gregory, Vande Woude, George, Amin, Mahul B, Knudsen, Beatrice S
المساهمون: National Institutes of Health
المصدر: The Journal of Pathology: Clinical Research ; volume 2, issue 4, page 210-222 ; ISSN 2056-4538 2056-4538
الإتاحة: https://doi.org/10.1002/cjp2.49Test
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13دورية أكاديمية
المؤلفون: Kransdorf, Evan P., Fishbein, Mike C., Czer, Lawrence S. C., Patel, Jignesh K., Velleca, Angela, Tazelaar, Henry D., Roy, R. Raina, Steidley, D. Eric, Kobashigawa, Jon A., Luthringer, Daniel J.
المصدر: American Journal of Clinical Pathology ; volume 146, issue 2, page 191-198 ; ISSN 0002-9173 1943-7722
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1093/ajcp/aqw098Test
http://academic.oup.com/ajcp/article-pdf/146/2/191/6651283/aqw098.pdfTest -
14دورية أكاديمية
المؤلفون: Mohanty, Sambit K., Smith, Steven C., Chang, Elena, Luthringer, Daniel J., Gown, Allen M., Aron, Manju, Amin, Mahul B.
المصدر: American Journal of Clinical Pathology ; volume 142, issue 2, page 173-183 ; ISSN 1943-7722 0002-9173
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1309/ajcpk1ov6imnpfglTest
http://academic.oup.com/ajcp/article-pdf/142/2/173/24998074/ajcpath142-0173.pdfTest -
15دورية أكاديمية
المؤلفون: Collak, Filiz Kisaayak, Yagiz, Kader, Luthringer, Daniel J., Erkaya, Bahriye, Cinar, Bekir
المصدر: Journal of Biological Chemistry ; volume 287, issue 28, page 23698-23709 ; ISSN 0021-9258
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1074/jbc.m112.358713Test
https://api.elsevier.com/content/article/PII:S0021925820433770?httpAccept=text/xmlTest
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16دورية أكاديمية
المؤلفون: Sirohi, Deepika, Gandhi, Jatin, Amin, Mahul B., Luthringer, Daniel J.
المصدر: Human Pathology ; volume 93, page 48-53 ; ISSN 0046-8177
مصطلحات موضوعية: Pathology and Forensic Medicine
الإتاحة: https://doi.org/10.1016Test/j.humpath.2019.08.011
https://api.elsevier.com/content/article/PII:S0046817719301443?httpAccept=text/xmlTest
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17دورية أكاديمية
المؤلفون: Lau, Sean K, Desrochers, Matthew J, Luthringer, Daniel J
المصدر: Modern Pathology ; volume 15, issue 5, page 538-542 ; ISSN 0893-3952
مصطلحات موضوعية: Pathology and Forensic Medicine
الإتاحة: https://doi.org/10.1038/modpathol.3880560Test
http://www.nature.com/articles/3880560.pdfTest
http://www.nature.com/articles/3880560Test
https://api.elsevier.com/content/article/PII:S0893395222048839?httpAccept=text/xmlTest
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18دورية أكاديمية
المؤلفون: Choudhary, Mohammad, Mascareno, Eduardo, Simmonds, Iman, Beckles, Daniel L., Luthringer, Daniel J., Sreedhara, Karthik
المصدر: Journal of the American College of Surgeons ; volume 227, issue 4, page e100-e101 ; ISSN 1072-7515
الإتاحة: https://doi.org/10.1016Test/j.jamcollsurg.2018.08.271
https://api.elsevier.com/content/article/PII:S1072751518315643?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1072751518315643?httpAccept=text/plainTest
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20دورية أكاديمية
المؤلفون: Smith, Steven C, Sirohi, Deepika, Ohe, Chisato, McHugh, Jonathan B, Hornick, Jason L, Kalariya, Jigna, Karia, Sushil, Snape, Katie, Hodgson, Shirley V, Cani, Andi K, Hovelson, Daniel, Luthringer, Daniel J, Martignoni, Guido, Chen, Ying‐bei, Tomlins, Scott A, Mehra, Rohit, Amin, Mahul B
مصطلحات موضوعية: fumarate hydrataseâ deficient renal cell carcinoma, hereditary leiomyomatosisâ renal cell carcinoma syndrome, oncocytic carcinoma, renal cell carcinoma, succinate dehydrogenaseâ deficient renal cell carcinoma, Microbiology and Immunology, Health Sciences
وصف الملف: application/pdf
العلاقة: Smith, Steven C; Sirohi, Deepika; Ohe, Chisato; McHugh, Jonathan B; Hornick, Jason L; Kalariya, Jigna; Karia, Sushil; Snape, Katie; Hodgson, Shirley V; Cani, Andi K; Hovelson, Daniel; Luthringer, Daniel J; Martignoni, Guido; Chen, Ying‐bei; Tomlins, Scott A; Mehra, Rohit; Amin, Mahul B (2017). "A distinctive, lowâ grade oncocytic fumarate hydrataseâ deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenaseâ deficient renal cell carcinoma." Histopathology 71(1): 42-52.; https://hdl.handle.net/2027.42/137292Test; Histopathology; Warrick JI, Hovelson DH, Amin A et al. Tumor evolution and progression in multifocal and paired nonâ invasive/invasive urothelial carcinoma. Virchows Arch. 2015; 466; 297 â 311.; Housley SL, Lindsay RS, Young B et al. Renal carcinoma with giant mitochondria associated with germâ line mutation and somatic loss of the succinate dehydrogenase B gene. Histopathology 2010; 56; 405 â 408.; Jiang Q, Zhang Y, Zhou YH et al. A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma. Int. J. Clin. Exp. Pathol. 2015; 8; 12188 â 12197.; Ozluk Y, Taheri D, Matoso A et al. Renal carcinoma associated with a novel succinate dehydrogenase a mutation: a case report and review of literature of a rare subtype of renal carcinoma. Hum. Pathol. 2015; 46; 1951 â 1955.; Yakirevich E, Ali SM, Mega A et al. A novel SDHAâ deficient renal cell carcinoma revealed by comprehensive genomic profiling. Am. J. Surg. Pathol. 2015; 39; 858 â 863.; Alam NA, Barclay E, Rowan AJ et al. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch. Dermatol. 2005; 141; 199 â 206.; Srigley JR, Delahunt B, Eble JN et al. The International Society of Urological Pathology (ISUP) Vancouver classification of renal neoplasia. Am. J. Surg. Pathol. 2013; 37; 1469 â 1489.; Toro JR, Nickerson ML, Wei MH et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am. J. Hum. Genet. 2003; 73; 95 â 106.; Launonen V, Vierimaa O, Kiuru M et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc. Natl Acad. Sci. USA 2001; 98; 3387 â 3392.; Shuch B, Ricketts CJ, Vocke CD et al. Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. J. Urol. 2013; 189; 430 â 435.; Merino MJ, Torresâ Cabala C, Pinto P, Linehan WM. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am. J. Surg. Pathol. 2007; 31; 1578 â 1585.; Chen YB, Brannon AR, Toubaji A et al. Hereditary leiomyomatosis and renal cell carcinoma syndromeâ associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. Am. J. Surg. Pathol. 2014; 38; 627 â 637.; Trpkov K, Hes O, Agaimy A et al. Fumarate hydrataseâ deficient renal cell carcinoma is strongly correlated with fumarate hydratase mutation and hereditary leiomyomatosis and renal cell carcinoma syndrome. Am. J. Surg. Pathol. 2016; 40; 865 â 875.; Barker KT, Bevan S, Wang R et al. Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Br. J. Cancer 2002; 87; 446 â 448.; Harrison WJ, Andrici J, Maclean F et al. Fumarate hydrataseâ deficient uterine leiomyomas occur in both the syndromic and sporadic settings. Am. J. Surg. Pathol. 2016; 40; 599 â 607.; Cancer Genome Atlas Research Network, Linehan WM, Spellman PT, Ricketts CJ et al. Comprehensive molecular characterization of papillary renalâ cell carcinoma. N. Engl. J. Med. 2016; 374; 135 â 145.; Smith SC, Trpkov K, Mehra R et al. Is tubulocystic carcinoma with dedifferentiation a form of HLRCC/fumarate hydrataseâ deficient RCC? Mod. Pathol. 2015; 28; 260A.; Smith SC, Trpkov K, Chen YB et al. Tubulocystic carcinoma of the kidney with poorly differentiated foci: a frequent morphologic pattern of fumarate hydrataseâ deficient renal cell carcinoma. Am. J. Surg. Pathol. 2016; 40; 1457 â 1472.; Alrashdi I, Levine S, Paterson J et al. Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. Fam. Cancer 2010; 9; 239 â 243.; Grasso C, Butler T, Rhodes K et al. Assessing copy number alterations in targeted, ampliconâ based nextâ generation sequencing data. J. Mol. Diagn. 2015; 17; 53 â 63.; Kadakia KC, Tomlins SA, Sanghvi SK et al. Comprehensive serial molecular profiling of an â n of 1â exceptional nonâ responder with metastatic prostate cancer progressing to small cell carcinoma on treatment. J. Hematol. Oncol. 2015; 8; 109.; Lehtonen HJ. Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam. Cancer 2011; 10; 397 â 411.; Menko FH, Maher ER, Schmidt LS et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam. Cancer 2014; 13; 637 â 644.; van Nederveen FH, Korpershoek E, Lenders JW, de Krijger RR, Dinjens WN. Somatic SDHB mutation in an extraadrenal pheochromocytoma. N. Engl. J. Med. 2007; 357; 306 â 308.; Giubellino A, Lara K, Martucci V et al. Urinary bladder paragangliomas: how immunohistochemistry can assist to identify patients with SDHB germline and somatic mutations. Am. J. Surg. Pathol. 2015; 39; 1488 â 1492.; Gill AJ, Toon CW, Clarkson A et al. Succinate dehydrogenase deficiency is rare in pituitary adenomas. Am. J. Surg. Pathol. 2014; 38; 560 â 566.; Kuehn A, Paner GP, Skinnider BF et al. Expression analysis of kidneyâ specific cadherin in a wide spectrum of traditional and newly recognized renal epithelial neoplasms: diagnostic and histogenetic implications. Am. J. Surg. Pathol. 2007; 31; 1528 â 1533.; Gill AJ, Benn DE, Chou A et al. Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paragangliomaâ pheochromocytoma syndromes. Hum. Pathol. 2010; 41; 805 â 814.; Chen YB, Kong MX, Bialik A et al. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)â associated renal cancer: a comparison of fumarate hydratase (FH) and Sâ (2â succino)â cysteine (2SC) immunohistochemistry as ancillary tools. Mod. Pathol. 2015; 28; 211A.; Castroâ Vega LJ, Buffet A, De Cubas AA et al. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum. Mol. Genet. 2014; 23; 2440 â 2446.; Joseph NM, Solomon DA, Frizzell N, Rabban JT, Zaloudek C, Garg K. Morphology and immunohistochemistry for 2SC and FH aid in detection of fumarate hydratase gene aberrations in uterine leiomyomas from young patients. Am. J. Surg. Pathol. 2015; 39; 1529 â 1539.; Clark GR, Sciacovelli M, Gaude E et al. Germline FH mutations presenting with pheochromocytoma. J. Clin. Endocrinol. Metab. 2014; 99; E2046 â E2050.; Letouze E, Martinelli C, Loriot C et al. SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell 2013; 23; 739 â 752.; Llamasâ Velasco M, Requena L, Kutzner H et al. Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. J. Cutan. Pathol. 2014; 41; 859 â 865.; Gill AJ, Hes O, Papathomas T et al. Succinate dehydrogenase (SDH)â deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. Am. J. Surg. Pathol. 2014; 38; 1588 â 1602.; Williamson SR, Eble JN, Amin MB et al. Succinate dehydrogenaseâ deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma. Mod. Pathol. 2015; 28; 80 â 94.; Gill AJ, Pachter NS, Clarkson A et al. Renal tumors and hereditary pheochromocytomaâ paraganglioma syndrome type 4. N. Engl. J. Med. 2011; 364; 885 â 886.; Gill AJ, Pachter NS, Chou A et al. Renal tumors associated with germline SDHB mutation show distinctive morphology. Am. J. Surg. Pathol. 2011; 35; 1578 â 1585.; Vanharanta S, Buchta M, McWhinney SR et al. Earlyâ onset renal cell carcinoma as a novel extraparaganglial component of SDHBâ associated heritable paraganglioma. Am. J. Hum. Genet. 2004; 74; 153 â 159.