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2017 ; 8
(ä): 15816
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The genomic landscape of tuberous sclerosis complex
#MMPMID28643795
Martin KR
; Zhou W
; Bowman MJ
; Shih J
; Au KS
; Dittenhafer-Reed KE
; Sisson KA
; Koeman J
; Weisenberger DJ
; Cottingham SL
; DeRoos ST
; Devinsky O
; Winn ME
; Cherniack AD
; Shen H
; Northrup H
; Krueger DA
; MacKeigan JP
Nat Commun
2017[Jun]; 8
(ä): 15816
PMID28643795
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Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem
growth of benign tumours and other hamartomatous lesions, which leads to diverse
and debilitating clinical symptoms. Patients are born with TSC1 or TSC2
mutations, and somatic inactivation of wild-type alleles drives MTOR activation;
however, second hits to TSC1/TSC2 are not always observed. Here, we present the
genomic landscape of TSC hamartomas. We determine that TSC lesions contain a low
somatic mutational burden relative to carcinomas, a subset feature large-scale
chromosomal aberrations, and highly conserved molecular signatures for each type
exist. Analysis of the molecular signatures coupled with computational approaches
reveals unique aspects of cellular heterogeneity and cell origin. Using immune
data sets, we identify significant neuroinflammation in TSC-associated brain
tumours. Taken together, this molecular catalogue of TSC serves as a resource
into the origin of these hamartomas and provides a framework that unifies genomic
and transcriptomic dimensions for complex tumours.
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