FaCD Online Syndrome Fact Sheet

Last updated: 02 Jul 2008

Name: Familial Intestinal Neurofibromatosis

Synonym: Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,

Mode of Inheritance: AD

Genes

PDGFRA, mapped to 4q12

Tumor features

gastrointestinal neurofibromas
gastrointestinal stromal tumor (GIST)

Comment

Heimann et al.[1,2] and Lipton and Zuckerbrod[3] have suggested that hereditary intestinal neurofibromatosis exists as a disorder distinct from NF1. More recently, it has been shown that, rather than neurofibromas, these intestinal tumors may in fact be stromal tumors. De Raedt et al[3] detected a germline PDGFRA mutation in the family previously reported by Heimann and suggest that this disorder can be regarded as a subset of Familial GIST

References

[1] Heimann R, Verhest A, Verschraegen J, Grosjean W, Draps JP, Hecht F. Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease. Neurofibromatosis 1988; 1(1):26-32.
[2] Verhest A, Heimann R, Verschraegen J, Vamos E, Hecht F. Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14. Neurofibromatosis 1988; 1(1):33-6.
[3] Lipton S, Zuckerbrod M. Familial enteric neurofibromatosis. Medical times 1966; 94(5):544-8.
[4] de Raedt T, Cools J, Debiec-Rychter M, Brems H, Mentens N, Sciot R, Himpens J, de Wever I, Schöffski P, Marynen P, Legius E. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. Gastroenterology 2006; 131(6):1907-12.