Literature DB >> 21182496

Tuberous sclerosis complex: tumors and tumorigenesis.

Julita Borkowska1, Robert A Schwartz, Katarzyna Kotulska, Sergiusz Jozwiak.   

Abstract

Tuberous sclerosis complex (TSC) is an inherited disorder characterized by hamartomas in different body organs, mainly in the brain, skin, kidney, liver, lung, and heart. The clinical manifestations of TSC are the result of a mutation of one of two tumor suppressor genes, TSC1 and TSC2. Cutaneous findings in TSC should be regarded as cutaneous signs of a pivotal systemic disease. The authors elucidate the variety of neoplasms seen in TSC patients, along with their clinical significance, and suggest suitable evaluation and management strategies.
© 2011 The International Society of Dermatology.

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Year:  2011        PMID： 21182496     DOI： 10.1111/j.1365-4632.2010.04727.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN： 0011-9059            Impact factor:   2.736


  29 in total

1.  TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation.

Authors:  Sarah Jinn; Robert E Drolet; Paige E Cramer; Andus Hon-Kit Wong; Dawn M Toolan; Cheryl A Gretzula; Bhavya Voleti; Galya Vassileva; Jyoti Disa; Marija Tadin-Strapps; David J Stone
Journal:  Proc Natl Acad Sci U S A       Date:  2017-02-13       Impact factor: 11.205

2.  Angiomyolipomas, renal cell carcinomas and pulmonary lymphangioleiomyomatosis.

Authors:  Panagiotis J Vlachostergios; Bahareh Soroori Rad; Kamran Karimi; George Apergis
Journal:  J Clin Diagn Res       Date:  2014-10-20

3.  Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex.

Authors:  Ana Teresa Gil; Ana Brett; Carolina Cordinhã; Clara Gomes
Journal:  BMJ Case Rep       Date:  2013-07-12

4.  Oral everolimus treatment in a preterm infant with multifocal inoperable cardiac rhabdomyoma associated with tuberous sclerosis complex and a structural heart defect.

Authors:  Ibrahim Mohamed; Guillaume Ethier; Isabelle Goyer; Philippe Major; Nagib Dahdah
Journal:  BMJ Case Rep       Date:  2014-11-26

5.  mTOR Inhibitor Therapy for Tuberous Sclerosis Complex: Longitudinal Study of Muscle Mass Determined by Abdominal Cross-sectional Imaging with CT and MRI.

Authors:  Caroline Raab; Leah A Gilligan; Andrew T Trout; Darcy A Krueger; David N Franz; Bin Zhang; Alexander J Towbin
Journal:  Radiol Imaging Cancer       Date:  2020-09-18

6.  A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas.

Authors:  Jarrett D Leech; Stephen H T Lammers; Sam Goldman; Neil Auricchio; Roderick T Bronson; David J Kwiatkowski; Mustafa Sahin
Journal:  Mol Cancer Res       Date:  2014-12-29       Impact factor: 5.852

7.  Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases.

Authors:  Hang Wang; Qilai Long; Yiwei Wang; Li Liu; Lin Zhou; Jianming Guo
Journal:  Oncol Lett       Date:  2016-06-23       Impact factor: 2.967

8.  The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.

Authors:  J Chris Kingswood; Sergiusz Jozwiak; Elena D Belousova; Michael D Frost; Rachel A Kuperman; E Martina Bebin; Bruce R Korf; J Robert Flamini; Michael H Kohrman; Steven P Sparagana; Joyce Y Wu; Thomas Brechenmacher; Karen Stein; Noah Berkowitz; John J Bissler; David N Franz
Journal:  Nephrol Dial Transplant       Date:  2014-04-11       Impact factor: 5.992

Review 9.  The mTOR signaling pathway as a treatment target for intracranial neoplasms.

Authors:  Doreen Pachow; Wolfgang Wick; David H Gutmann; Christian Mawrin
Journal:  Neuro Oncol       Date:  2014-08-27       Impact factor: 12.300

10.  G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling.

Authors:  Mirja Tamara Prentzell; Ulrike Rehbein; Marti Cadena Sandoval; Ann-Sofie De Meulemeester; Ralf Baumeister; Laura Brohée; Bianca Berdel; Mathias Bockwoldt; Bernadette Carroll; Suvagata Roy Chowdhury; Andreas von Deimling; Constantinos Demetriades; Gianluca Figlia; Mariana Eca Guimaraes de Araujo; Alexander M Heberle; Ines Heiland; Birgit Holzwarth; Lukas A Huber; Jacek Jaworski; Magdalena Kedra; Katharina Kern; Andrii Kopach; Viktor I Korolchuk; Ineke van 't Land-Kuper; Matylda Macias; Mark Nellist; Wilhelm Palm; Stefan Pusch; Jose Miguel Ramos Pittol; Michèle Reil; Anja Reintjes; Friederike Reuter; Julian R Sampson; Chloë Scheldeman; Aleksandra Siekierska; Eduard Stefan; Aurelio A Teleman; Laura E Thomas; Omar Torres-Quesada; Saskia Trump; Hannah D West; Peter de Witte; Sandra Woltering; Teodor E Yordanov; Justyna Zmorzynska; Christiane A Opitz; Kathrin Thedieck
Journal:  Cell       Date:  2021-01-25       Impact factor: 41.582
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