1,485
Views
3
CrossRef citations to date
0
Altmetric
Articles

Clinical, genetic and experimental studies of the Brooke–Spiegler (CYLD) skin tumor syndrome

, , ORCID Icon & ORCID Icon
Pages 71-75 | Received 14 Aug 2018, Accepted 02 Nov 2018, Published online: 24 Jan 2019

References

  • Rajan N, Ashworth A. Inherited cylindromas: lessons from a rare tumour. Lancet Oncol. 2015;16:e460–e469.
  • Jungehulsing M, Wagner M, Damm M. Turban tumour with involvement of the parotid gland. J Laryngol Otol. 1999;113:779–783.
  • Fusco N, Colombo PE, Martelotto LG, et al. Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing. Histopathology. 2016;68:262–271.
  • Bignell GR, Warren W, Seal S, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet. 2000;25:160–165.
  • Brummelkamp TR, Nijman SM, Dirac AM, et al. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature. 2003;424:797–801.
  • Trompouki E, Hatzivassiliou E, Tsichritzis T, et al. CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. Nature. 2003;424:793–796.
  • Rajan N, Andersson MK, Sinclair N, et al. Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells. J Pathol. 2016;239:197–205.
  • Fehr A, Kovacs A, Loning T, et al. The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindroma. J Pathol. 2011;224:322–327.
  • Chang X, Wang K. wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet. 2012;49:433–436.
  • Rajan N, Elliott R, Clewes O, et al. Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours. Oncogene. 2011;30:4243–4260.
  • Massoumi R, Chmielarska K, Hennecke K, et al. Cyld inhibits tumor cell proliferation by blocking Bcl-3-dependent NF-kappaB signaling. Cell. 2006;125:665–677.
  • Jin YJ, Wang S, Cho J, et al. Epidermal CYLD inactivation sensitizes mice to the development of sebaceous and basaloid skin tumors. JCI Insight. 2016;1:e86548.
  • Kazakov DV. Brooke-Spiegler syndrome and phenotypic variants: an update. Head Neck Pathol. 2016;10:125–130.