By Shirley Hodgson, William Foulkes, Charis Eng, Eamonn Maher
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Extra info for A Practical Guide to Human Cancer Genetics
In VHL-related phaeochromocytomas, almost all showed LOH of markers around VHL at 3p with LOH of markers at 1p and 22q being 15 and 21 per cent respectively. , 2000). 2. Sample surveillance protocol for SDH mutation carrier (see also text) Proven SDHB mutation carrier 1. Annual 24 h urine for catecholamines and vanyllylmandelic acid measurements from age 5 years. 2. Annual abdominal MRI scans from age 7 years (abdominal and thoracic every 3 years). 3. MRI neck age 20 years and every 3 years thereafter.
Ocular choristomas may be associated with Goldenhar syndrome (hemifacial microsomia) or epidermal naevus syndrome. In the latter disorder, choristomas are frequently bilateral and extensive. Goldenhar syndrome is usually sporadic, but in rare cases can be familial. , 1989). Cavernous haemangioma This rare ocular tumour should be distinguished from retinal haemangioblastoma (capillary haemangioma). Mean age at diagnosis is 23 years, and less than 10 per cent are bilateral. Cavernous haemangioma is usually non-progressive and serious complications are uncommon.
Expression of NF2 is variable, so a careful search for evidence of NF2 and a detailed family history should be performed in all patients with multiple or familial meningioma, or with a young age at onset. Although many reports of familial meningioma may be variants of NF2, dominantly inherited meningioma with no evidence of NF2 does occur. However, 17 Central nervous system signs of NF2 should be assiduously sought in all cases of familial meningioma as these may not be obvious. For example, Delleman et al.
A Practical Guide to Human Cancer Genetics by Shirley Hodgson, William Foulkes, Charis Eng, Eamonn Maher