Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease

2001 ◽  
Vol 160 (7) ◽  
pp. 421-424 ◽  
Author(s):  
Sabine Frenzel ◽  
Thomas W. Apel ◽  
Peter H. Heidemann ◽  
Klaus Zerres ◽  
Hartmut P. H. Neumann ◽  
...  
1995 ◽  
Vol 4 (11) ◽  
pp. 2139-2143 ◽  
Author(s):  
F. M. Richards ◽  
S. J. Payne ◽  
B. Zbar ◽  
N. A. Affara ◽  
M. A. Ferguson-Smith ◽  
...  

1996 ◽  
Vol 85 (4) ◽  
pp. 591-596 ◽  
Author(s):  
Mika Niemelä ◽  
Young Jin Lim ◽  
Michael Söderman ◽  
Juha Jääskeläinen ◽  
Christer Lindquist

✓ One suprasellar, one mesencephalic, and nine cerebellar hemangioblastomas were treated with the gamma knife in 10 patients (median age 48 years) in Stockholm between 1978 and 1993. Four patients had von Hippel—Lindau disease, a dominant inherited trait predisposing to multiple hemangioblastomas. Six hemangioblastomas were treated with radiotherapy at a median margin dose of 25 Gy (20–35 Gy) before 1990 and the next five with a median of 10 Gy (5–19 Gy). Computerized tomography or magnetic resonance images were available for 10 of the 11 hemangioblastomas at a median follow-up time of 26 months (4–68 months) after radiosurgery. The solid part of six hemangioblastomas shrank in a median of 30 months, whereas four hemangioblastomas were unchanged at a median of 14 months. Five hemangioblastomas had an adjoining cyst and three of these cysts had to be evacuated after radiosurgery. One solitary hemangioblastoma later developed a de novo cyst that also needed evacuation. One patient with two cerebellar hemangioblastomas (margin dose 25 Gy each) developed edema at 6 months and required a shunt and prolonged corticosteroid treatment. The combined follow-up data of the 23 hemangioblastomas in 15 patients from previous literature and the present series indicate that, first, a solitary small- or medium-sized hemangioblastoma usually shrinks or stops growing after radiosurgery. The recommended margin dose is 10 to 15 Gy. Second, the adjoining cyst often does not respond to radiosurgery but requires later, sometimes repeated evacuation.


2014 ◽  
Vol 121 (2) ◽  
pp. 384-386 ◽  
Author(s):  
Xinghua Ding ◽  
Chao Zhang ◽  
Jason M. Frerich ◽  
Anand Germanwala ◽  
Chunzhang Yang ◽  
...  

Von Hippel-Lindau (VHL) disease is an autosomal dominant multiorgan tumor syndrome caused by a germline mutation in the VHL gene. Characteristic tumors include CNS hemangioblastomas (HBs), endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors. Sporadic VHL disease with a de novo germline mutation is rare. The authors describe a case of multiple CNS HBs in a patient with a heterozygous de novo germline mutation at c.239G>T [p.S80I] of VHL. This is the first known case of a sporadic de novo germline mutation of VHL at c.239G>T. Clinicians should continue to consider VHL disease in patients presenting with sporadic CNS HBs, including those without a family history, to confirm or exclude additional VHL-associated visceral lesions.


2019 ◽  
Author(s):  
Timothy McMillan ◽  
Anju Sahdev ◽  
Jane Evanson ◽  
Lorraine McAndrew ◽  
Lee Martin ◽  
...  

2019 ◽  
Author(s):  
Ozge Tasgin Yildirim ◽  
Ismail Yildiz ◽  
Fatih Horozoglu ◽  
Aysun Gonen ◽  
Cenk Murat Yazici ◽  
...  

2019 ◽  
Vol 63 (5) ◽  
Author(s):  
Francesco Signorelli ◽  
Giovanni Piscopo ◽  
Sophie Giraud ◽  
Silvana Guerriero ◽  
Antonio Laborante ◽  
...  

2000 ◽  
Vol 175 (3) ◽  
pp. 925-926 ◽  
Author(s):  
K. Ayadi ◽  
Kh. Ben Mahfoudh ◽  
M. Khannous ◽  
J. Mnif

Sign in / Sign up

Export Citation Format

Share Document