Journal ArticleDOI
Tuberous sclerosis-associated renal cell carcinoma: a clinicopathologic study of 57 separate carcinomas in 18 patients.
Juan Guo,Maria S. Tretiakova,Megan L. Troxell,Adeboye O. Osunkoya,Oluwole Fadare,Ankur R. Sangoi,Steven S. Shen,Antonio Lopez-Beltran,Rohit Mehra,Amer Heider,John P. Higgins,Lara Harik,Xavier Leroy,Anthony J. Gill,Kiril Trpkov,Steven C. Campbell,Christopher G. Przybycin,Christopher G. Przybycin,Cristina Magi-Galluzzi,Cristina Magi-Galluzzi,Jesse K. McKenney,Jesse K. McKenney +21 more
TLDR
Tuberous sclerosis complex-associated RCCs have unique clinicopathologic features including female predominance, younger age at diagnosis, multiplicity, association with AMLs, 3 recurring histologic patterns, and an indolent clinical course.Abstract:
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with characteristic tumors involving multiple organ systems. Whereas renal angiomyolipoma (AML) is common in TSC, renal cell carcinoma (RCC) is rarely reported. Fifty-seven RCCs from 13 female and 5 male TSC patients were reviewed. Age at surgery ranged from 7 to 65 years (mean: 42 y). Nine patients (50%) had multiple synchronous and/or metachronous RCCs (range of 2 to 20 RCCs) and 5 had bilateral RCCs (28%). Seventeen patients (94%) had histologically confirmed concurrent renal AMLs, including 15 with multiple AMLs (88%) and 9 (50%) with AMLs with epithelial cysts. None of the 15 patients with available clinical follow-up information had evidence of distant metastatic disease from 6 to 198 months after their initial surgery (mean: 52 mo). The 57 RCCs exhibited 3 major distinct morphologies: (1) 17 RCCs (30%) had features similar to tumors previously described as "renal angiomyoadenomatous tumor" or "RCC with smooth muscle stroma"; (2) 34 RCCs (59%) showed features similar to chromophobe RCC; and (3) 6 RCCs (11%) showed a granular eosinophilic-macrocystic morphology. Distinct histologic changes were also commonly present in the background kidney parenchyma and included cysts or renal tubules lined by epithelial cells with prominent eosinophilic cytoplasm, nucleomegaly, and nucleoli. Immunohistochemically, all RCCs tested showed strong nuclear reactivity for PAX8 and HMB45 negativity. Compared with sporadic RCCs, TSC-associated RCCs have unique clinicopathologic features including female predominance, younger age at diagnosis, multiplicity, association with AMLs, 3 recurring histologic patterns, and an indolent clinical course. Awareness of the morphologic and clinicopathologic spectrum of RCC in this setting will allow surgical pathologists to better recognize clinically unsuspected TSC patients.read more
Citations
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Journal ArticleDOI
Tuberous sclerosis complex
Elizabeth P. Henske,Sergiusz Jóźwiak,J. Christopher Kingswood,Julian R. Sampson,Elizabeth A. Thiele +4 more
TL;DR: The state-of-the-art knowledge in the TSC field is reviewed, including the molecular and cellular basis of the disease, medical management, major knowledge gaps and ongoing research towards a cure.
Journal ArticleDOI
Eosinophilic, Solid, and Cystic Renal Cell Carcinoma: Clinicopathologic Study of 16 Unique, Sporadic Neoplasms Occurring in Women.
Kiril Trpkov,Ondrej Hes,Michael Bonert,José I. López,Stephen M. Bonsib,Gabriella Nesi,Eva Comperat,Mathilde Sibony,Daniel M. Berney,Petr Martinek,Stela Bulimbasic,Saul Suster,Ankur R. Sangoi,Asli Yilmaz,John P. Higgins,Ming Zhou,Anthony J. Gill,Christopher G. Przybycin,Cristina Magi-Galluzzi,Jesse K. McKenney +19 more
TL;DR: It is proposed that sporadic “eosinophilic, solid, and cystic RCC,” which occurs predominantly in female individuals and is characterized by distinct morphologic features, predominant CK20-positive/CK7-negative immunophenotype, and indolent behavior, represents a novel subtype of RCC.
Journal ArticleDOI
WHO/ISUP classification, grading and pathological staging of renal cell carcinoma: standards and controversies.
Anne Y. Warren,David J. Harrison +1 more
TL;DR: Much has been done to standardise pathological assessment of renal cell carcinomas in recent years, but there still remain areas of difficulty in classification and grading of these heterogeneous tumours.
Journal ArticleDOI
New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
Kiril Trpkov,Ondrej Hes,Sean R. Williamson,Adebowale J. Adeniran,Abbas Agaimy,Reza Alaghehbandan,Mahul B. Amin,Pedram Argani,Ying-Bei Chen,Liang Cheng,Jonathan I. Epstein,John C. Cheville,Eva Compérat,Isabela Werneck da Cunha,Jennifer B. Gordetsky,Sounak Gupta,Huiying He,Michelle S. Hirsch,Peter A. Humphrey,Payal Kapur,Fumiyoshi Kojima,José I. López,Fiona Maclean,Cristina Magi-Galluzzi,Jesse K. McKenney,Rohit Mehra,Santosh Menon,George J. Netto,Christopher G. Przybycin,Priya Rao,Qiu Rao,Victor E. Reuter,Rola Saleeb,Rajal B. Shah,Steven C. Smith,Satish K. Tickoo,Maria S. Tretiakova,Lawrence D. True,Virginie Verkarre,Sara E. Wobker,Ming Zhou,Anthony J. Gill,Anthony J. Gill,Anthony J. Gill +43 more
TL;DR: The authors in this article reviewed recent advances in renal neoplasia, particularly post-2016 World Health Organization (WHO) classification, to provide an update on existing entities, including diagnostic criteria, molecular correlates, and updated nomenclature.
Journal ArticleDOI
Renal Cell Tumors: Understanding Their Molecular Pathological Epidemiology and the 2016 WHO Classification.
TL;DR: This review provides perspectives on both new and current subtypes of renal cell tumors, as well as on the emerging/provisional renal cell carcinomas in the new 2016 WHO classification, which focuses on features of their molecular pathological epidemiology.
References
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TL;DR: From the Department of Neurology (P.P.N., K.L.C.) and the Division of Medical Genetics (K.B.H.) — both in Philadelphia.
Journal ArticleDOI
The International Society of Urological Pathology (ISUP) Vancouver classification of renal neoplasia
John R. Srigley,Brett Delahunt,John N. Eble,Lars Egevad,Jonathan I. Epstein,David J. Grignon,Ondrej Hes,Holger Moch,Rodolfo Montironi,Satish K. Tickoo,Ming Zhou,Pedram Argani,Anila Abraham,Adebowale J. Adeniran,Khalid Ahmed,Hikmat Al Ahmadie,Ferran Algaba,Robert W. Allan,Mahul B. Amin,Ulrika Axcrona,Marc Barry,Dilek Ertoy Baydar,Louis R. Bégin,Daniel M. Berney,Peter Bethwaite,Athanase Billis,Ruth Birbe,Stephen M. Bonsib,David G. Bostwick,Fadi Brimo,Helen P. Cathro,Ying-Bei Chen,Liang Cheng,John C. Cheville,Yong Mee Cho,Ai Ying Chuang,Cynthia Cohen,Henry Crist,Warick Delprado,Fang Ming Deng,Andrew Evans,Oluwole Fadare,Daniel A. Fajardo,Sara M. Falzarano,Samson W. Fine,Stewart Fleming,Eddie Fridman,Bungo Furusato,Masoud Ganji,Masoumeh Ghayouri,Giovanna A. Giannico,Neriman Gokden,David J. Griffiths,Nilesh S. Gupta,Omar Hameed,Michelle S. Hirsch,Jiaoti Huang,Wei Huang,Christina Hulsbergen Van De Kaa,Peter A. Humphrey,Sundus Hussein,Kenneth A. Iczkowski,Rafael E. Jimenez,Edward C. Jones,Laura Irene Jufe,James G. Kench,Masatoshi Kida,Glen Kristiansen,Lakshmi P. Kunju,Zhaoli Lane,Mathieu Latour,Claudio Lewin,Kathrine Lie,Josep Lloreta,Barbara Loftus,Antonio Lopez-Beltran,Fiona Maclean,Cristina Magi-Galluzzi,Guido Martignoni,Teresa McHale,Jesse K. McKenney,Maria Merino,Rose Miller,Hiroshi Miyamoto,Hedwig Murphy,John N. Nacey,Tipu Nazeer,Gabriella Nesi,George J. Netto,Peter W. Nichols,Marie O'Donnell,Semra Olgac,Roberto Orozco,Adeboye O. Osunkoya,Aysim Ozagari,Chin Chen Pan,Anil V. Parwani,Joanna Perry-Keene,Constantina Petraki,Maria M. Picken,Maria Pyda-Karwicka,Victor E. Reuter,Katayoon Rezaei,Nathalie Rioux-Leclercq,Brian D. Robinson,Stephen Rohan,Ruben Ronchetti,Laurie Russell,Hemamali Samaratunga,Marina Scarpelli,Ahmed Shabaik,Rajal B. Shah,Jonathan H Shanks,Steven S. Shen,Maria Shevchuk,Mathilde Sibony,Bhuvana Srinivasan,Martin Susani,Sueli Suzigan,Joan Sweet,Hiroyuki Takahashi,Pheroze Tamboli,Puay Hoon Tan,Isabel Trias,Kiril Trpkov,Larry True,Toyonori Tsuzuki,Funda Vakar-Lopez,Theo H. van der Kwast,Cheng Wang,Anne Y. Warren,Jorge L. Yao,Asli Yilmaz,Jin Zhao,Debra L. Zynger +134 more
TL;DR: The classification working group of the International Society of Urological Pathology consensus conference on renal neoplasia was in charge of making recommendations regarding additions and changes to the current World Health Organization Classification of Renal Tumors, with consensus that 5 entities should be recognized as new distinct epithelial tumors within the classification system.
Book ChapterDOI
Tuberous sclerosis complex.
Monica P. Islam,Roach Es +1 more
TL;DR: Medications that inhibit mTOR are being used to treat TSC-related tumors, and current studies are investigating whether these agents could alleviate other TSC complications.
Journal ArticleDOI
The International Society of Urological Pathology (ISUP) Grading System for Renal Cell Carcinoma and Other Prognostic Parameters
Brett Delahunt,John C. Cheville,Guido Martignoni,Peter A. Humphrey,Cristina Magi-Galluzzi,Jesse K. McKenney,Lars Egevad,Ferran Algaba,Holger Moch,David J. Grignon,Rodolfo Montironi,John R. Srigley,John R. Srigley,Anila Abraham,Adebowale J. Adeniran,Khalid Ahmed,Hikmat Al Ahmadie,Robert W. Allan,Mahul B. Amin,Pedram Argani,Ulrika Axcrona,Marc Barry,Dilek Ertoy Baydar,Louis R. Bégin,Daniel M. Berney,Peter Bethwaite,Athanase Billis,Ruth Birbe,Stephen M. Bonsib,David G. Bostwick,Fadi Brimo,Helen P. Cathro,Ying-Bei Chen,Liang Cheng,Yong Mee Cho,Ai Ying Chuang,Cynthia Cohen,Henry Crist,Warick Delprado,Fang Ming Deng,Jonathan I. Epstein,Andrew Evans,Oluwole Fadare,Daniel A. Fajardo,Sara M. Falzarano,Samson W. Fine,Stewart Fleming,Eddie Fridman,Bungo Furusato,Masoud Ganji,Masoumeh Ghayouri,Giovanna A. Giannico,Neriman Gokden,David J. Griffiths,Nilesh S. Gupta,Omar Hameed,Ondrej Hes,Michelle S. Hirsch,Jiaoti Huang,Wei Huang,Christina Hulsbergen Van De Kaa,Sundus Hussein,Kenneth A. Iczkowski,Rafael E. Jimenez,Edward C. Jones,Laura Irene Jufe,James G. Kench,Masatoshi Kida,Glen Kristiansen,Lakshmi P. Kunju,Zhaoli Lane,Mathieu Latour,Claudio Lewin,Kathrine Lie,Josep Lloreta,Barbara Loftus,Antonio Lopez-Beltran,Fiona Maclean,Teresa McHale,Maria Merino,Rose Miller,Hiroshi Miyamoto,Hedwig Murphy,John N. Nacey,Tipu Nazeer,Gabriella Nesi,George J. Netto,Peter W. Nichols,Marie O'Donnell,Semra Olgac,Roberto Orozco,Adeboye O. Osunkoya,Aysim Ozagari,Chin Chen Pan,Anil V. Parwani,Joanna Perry-Keene,Constantina Petraki,Maria M. Picken,Maria Pyda-Karwicka,Victor E. Reuter,Katayoon Rezaei,Nathalie Rioux-Leclercq,Brian D. Robinson,Stephen Rohan,Ruben Ronchetti,Laurie Russell,Marina Scarpelli,Ahmed Shabaik,Rajal B. Shah,Jonathan H Shanks,Steven S. Shen,Maria Shevchuk,Mathilde Sibony,Bhuvana Srinivasan,Martin Susani,Sueli Suzigan,Joan Sweet,Hiroyuki Takahashi,Puay Hoon Tan,Satish K. Tickoo,Isabel Trias,Larry True,Toyonori Tsuzuki,Funda Vakar-Lopez,Theo H. van der Kwast,Cheng Wang,Anne Y. Warren,Jorge L. Yao,Asli Yilmaz,Jin Zhao,Ming Zhou,Debra L. Zynger +131 more
TL;DR: The International Society of Urological Pathology 2012 Consensus Conference made recommendations regarding classification, prognostic factors, staging, and immunohistochemical and molecular assessment of adult renal tumors.
Journal ArticleDOI
Primary Renal Neoplasms with the ASPL-TFE3 Gene Fusion of Alveolar Soft Part Sarcoma: A Distinctive Tumor Entity Previously Included among Renal Cell Carcinomas of Children and Adolescents
Pedram Argani,Cristina R. Antonescu,Peter B. Illei,Man Yee Lui,Charles F. Timmons,T. Robert Newbury,Victor E. Reuter,A. Julian Garvin,Antonio R. Perez-Atayde,Jonathan A. Fletcher,J. Bruce Beckwith,Julia A. Bridge,Marc Ladanyi +12 more
TL;DR: A subset of tumors previously considered to be RCC in young people are in fact genetically related to ASPS, although their distinctive morphological and genetic features justify their classification as a distinctive neoplastic entity.
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