Neurofibromatosis type 2 and von Hippel-Lindau disease: From gene cloning to function

Glia ◽  
1995 ◽  
Vol 15 (3) ◽  
pp. 297-307 ◽  
Author(s):  
Nikolai Kley ◽  
Jean Whaley ◽  
Bernd R. Seizinger
Keyword(s):  
Gene Cloning ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

2011 ◽  
Vol 18 (6) ◽  
pp. R253-R276 ◽  
Author(s):  
Jenny Welander ◽  
Peter Söderkvist ◽  
Oliver Gimm
Keyword(s):  
Adrenal Glands ◽  
Age Of Onset ◽  
Neurofibromatosis Type ◽  
Susceptibility Genes ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Hereditary Tumor Syndromes ◽  
Cellular Pathways

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel–Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC–PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney–Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes includingKIF1Bβ, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, andMAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

Surgical Management of Vestibular Schwannomas in Neurofibromatosis Type 2

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
J. Tysome ◽  
R. MacFarlane ◽  
J. Durie-Gair ◽  
N. Donnelly ◽  
R. Mannion ◽  
...  
Keyword(s):  
Surgical Management ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Vestibular Schwannomas

Early Outcomes Following Bevacizumab for Rapidly Growing Schwannomas in Neurofibromatosis Type 2

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
P. Patel ◽  
R. Jena ◽  
S. Jefferies ◽  
A. Hensiek ◽  
L. Raymond ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2

Speech Perception in Auditory Brainstem Implants in Neurofibromatosis Type 2

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
C. Matthies ◽  
R. Mlynski ◽  
S. Brill ◽  
J. Mueller ◽  
C. Varallyay ◽  
...  
Keyword(s):  
Speech Perception ◽  
Neurofibromatosis Type ◽  
Auditory Brainstem ◽  
Neurofibromatosis Type 2 ◽  
Auditory Brainstem Implants

The Auditory Brainstem Implant in Neurofibromatosis Type 2: Experience from the Manchester Programme

Skull Base ◽  
2008 ◽  
Vol 18 (S 01) ◽  
Author(s):  
Simon Freeman ◽  
Richard Ramsden ◽  
Shakeel Saeed ◽  
Martin O'Driscoll ◽  
Deborah Mawman ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Auditory Brainstem ◽  
Neurofibromatosis Type 2 ◽  
Auditory Brainstem Implant
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