scholarly journals Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation–associated metastatic renal-cell carcinoma

2018 ◽  
Vol 4 (2) ◽  
pp. a002220 ◽  
Author(s):  
Samer Alsidawi ◽  
Pashtoon Murtaza Kasi
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Metastatic Renal Cell Carcinoma ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell

scholarly journals Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex–Associated Renal Cell Carcinoma

2018 ◽  
Vol 11 (4) ◽  
pp. 962-970 ◽  
Author(s):  
Jeong Hwan Park ◽  
Cheol Lee ◽  
Mee Soo Chang ◽  
Kwangsoo Kim ◽  
Seongmin Choi ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Molecular Characterization ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell

Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Joseph G. Pressey ◽  
Jordan M. Wright ◽  
James I. Geller ◽  
David B. Joseph ◽  
Christine S. Pressey ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell

scholarly journals A Case of Tuberous Sclerosis Complex with Lymphangioleiomyomatosis and Renal Cell Carcinoma

2020 ◽  
Vol Volume 13 ◽  
pp. 12421-12426
Author(s):  
Yun Wu ◽  
Hongru Li ◽  
Xiaoli Yu ◽  
Ming Lin ◽  
Yusheng Chen
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell

scholarly journals Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity

2020 ◽  
Author(s):  
Marjorie Gournay ◽  
Frédéric Dugay ◽  
Marc-Antoine Belaud-Rotureau ◽  
Benoit Peyronnet ◽  
Romain Mathieu ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell ◽  
Distinct Entity

scholarly journals A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma

2005 ◽  
Vol 14 (13) ◽  
pp. 1839-1850 ◽  
Author(s):  
Catherine Wilson ◽  
Shelley Idziaszczyk ◽  
Lee Parry ◽  
Carol Guy ◽  
David F.R. Griffiths ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Mouse Model ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Metastatic Renal Cell Carcinoma ◽  
Renal Cell ◽  
Natal Mortality

scholarly journals A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

2014 ◽  
Vol 24 (7) ◽  
pp. 1836-1842 ◽  
Author(s):  
M. E. Tyburczy ◽  
S. Jozwiak ◽  
I. A. Malinowska ◽  
Y. Chekaluk ◽  
T. J. Pugh ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell ◽  
Second Hit

Concurrent Eosinophilic Solid and Cystic Renal Cell Carcinoma and Angiomyolipoma With Epithelial Cysts in the Setting of Tuberous Sclerosis Complex: A Rare Synchronous Occurrence of 2 Distinct Entities

2019 ◽  
Vol 27 (7) ◽  
pp. 804-811 ◽  
Author(s):  
Woo Cheal Cho ◽  
Katrina Collins ◽  
Laila Mnayer ◽  
Richard W. Cartun ◽  
Jonathan S. Earle
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell ◽  
Molecular Karyotyping ◽  
Heterozygous Mutation ◽  
Renal Neoplasm ◽  
Cystic Renal Cell Carcinoma ◽  
Epithelial Cysts

Eosinophilic solid and cystic renal cell carcinoma (ESCRCC) is a recently described distinct renal neoplasm known to occur almost exclusively in female patients with or without tuberous sclerosis complex (TSC). We report a case of ESCRCC with 2 synchronous angiomyolipomas, including 1 angiomyolipoma with epithelial cysts (AMLEC), a rare cystic variant of AML that typically arises sporadically in the absence of TSC, in a 46-year-old woman with TSC. Besides additional copy number alterations identified in ESCRCC via molecular karyotyping, we also report a unique histologic feature of TSC-associated ESCRCC previously not described in detail, with formation of semicircular multinucleated neoplastic giant cells engulfing an additional intact neoplastic cell, simulating emperipolesis. To the best of our knowledge, this is the first reported case of ESCRCC with concurrent AMLEC in a patient with TSC, confirmed through additional genetic testing showing a germline heterozygous mutation in TSC1. Awareness of ESCRCC helps avoid the pitfall of a diagnosis of unclassified renal cell carcinoma, a typically much more aggressive tumor.

scholarly journals A new cancer on the block: Tuberous sclerosis-associated renal cell carcinoma

2020 ◽  
pp. 205141582095643
Author(s):  
Helen Cui ◽  
Clare Verrill ◽  
Mark Sullivan
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cell ◽  
Case Series ◽  
Level Of Evidence ◽  
The Usa ◽  
Clear Cytoplasm ◽  
The Uk

Purpose: The purpose of this article is to present the first reported case of a renal tumour classified as tuberous sclerosis complex-associated renal cell carcinoma in the UK and discuss its clinical implications. Case report: A female, aged 65 years, with tuberous sclerosis complex was found on surveillance imaging to have interval growth of multiple right renal tumours up to 19 mm. Right partial nephrectomy was performed. Histology showed multiple tiny angiomyolipomas and a 20 mm tumour classified as tuberous sclerosis complex-associated renal cell carcinoma. These tumour cells showed abundant clear cytoplasm with a branched elongated arrangement encircled in dense smooth muscle stroma. Literature review: Renal cell carcinoma in patients with tuberous sclerosis complex is rare, occurring in approximately 4% of cases. Tuberous sclerosis complex-associated renal cell carcinoma is a relatively new histological entity, having previously been described as clear cell or chromophobe-like, with only one published case series from the USA. These tumours have three histological entities which are distinct from all other renal cell carcinoma classifications. Based on case series, tuberous sclerosis complex-associated renal cell carcinoma tends to occur more often in females, present at a younger age, have multiple tumours, and tend to show an indolent course, although metastases have been reported. Learning points: Patients with tuberous sclerosis complex can develop renal cell carcinoma, though the risk is thought to be no higher than for sporadic renal cell carcinoma. Given the limited literature, more evidence is required to help predict the future behaviour of these tumours. Level of evidence: 5

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