Premium
New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex
Author(s) -
Lam Hilaire C,
Nijmeh Julie,
Henske Elizabeth P
Publication year - 2017
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.4827
Subject(s) - tuberous sclerosis , pathogenesis , renal cell carcinoma , pathological , biology , mtorc1 , pathological anatomy , medicine , cancer research , genetics , bioinformatics , pathology , immunology , signal transduction , pi3k/akt/mtor pathway
In just the past 5 years, dramatic changes have occurred in the clinical management of tuberous sclerosis complex ( TSC ). Detailed knowledge about the role of the TSC proteins in regulating the activity of the mammalian target of rapamycin complex 1 ( mTORC1 ) underlies this paradigm‐shifting progress. Advances continue to be made in understanding the genetic pathogenesis of the different tumours that occur in TSC , including pivotal discoveries using next‐generation sequencing ( NGS ). For example, the pathogenesis of angiofibromas is now known to involve UV ‐induced mutations, and the pathogenesis of multifocal renal cell carcinoma ( RCC ) in TSC is now known to result from distinct second‐hit mutations. In parallel, the pathological features of TSC ‐associated tumours, including TSC ‐associated renal cell carcinoma, continue to be defined, despite the fact that TSC was first described 180 years ago. Here, we review recent discoveries related to the pathological features and genetic pathogenesis of TSC ‐associated tumours. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.