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International Journal of Diabetes in Developing Countries - 相似文献
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SV Kumaraswamy Nanjappa Madan R Keerthi Singh Shakti 《Journal of maxillofacial and oral surgery》2009,8(4):394-397
Lipomas represent about 1 to 5% of all neoplasms of the oral cavity. Although relatively common, few large series of intraoral
lipomas and its variants are seen in the literature. Therefore, the author presents the four cases of intra-oral lipoma with
one case of histological variant of lipoma, the fibrolipoma. All lesions were removed surgically with the intra-oral approach
and none showed recurrence. 相似文献
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Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation 总被引:5,自引:2,他引:5
Scott RJ; Froggatt NJ; Trembath RC; Evans DG; Hodgson SV; Maher ER 《Human molecular genetics》1996,5(12):1921-1924
Desmoid tumours are generally very rare but occur about 100 times more
frequently in the colorectal cancer predisposition syndrome familial
adenomatous polyposis (MIM 175100), being represented in about 10% of
patients. In addition to desmoid disease occurring in familial adenomatous
polyposis (FAP) there exist familial infiltrative fibromatosis (MIM 135290)
kindreds where there is no evidence of FAP. Previously we have described a
kindred with familial infiltrative fibromatosis (FIF) in which desmoid
tumours were associated with nonpolyposis colorectal cancer. FAP is caused
by mutations in the APC gene and various genotype-phenotype relationships
have been defined including reports that colorectal polyposis is less
severe with mutations 5' to codon 157 and that the risk of desmoid tumours
is high in FAP patients with APC gene mutations between codons 1444 and
1598. There is relatively little information on the phenotype of APC gene
mutations 3' to codon 1598; however, one large family has been reported
with a mutation at codon 1987 which presents with a highly variable
phenotype which includes desmoid disease. We screened our original FIF
kindred and three further families with a similar phenotype for mutations
in the APC gene. A 4 bp frameshift deletion in codon 1962 was identified in
the original FIF kindred and two further apparently unrelated families.
Haplotype analysis suggests a common origin for the APC mutation in all
three families. Affected individuals had no evidence of congenital
hypertrophy of the retinal pigment epithelium. Colorectal polyposis was
variable, and most affected patients had either none or a few late onset
polyps. These findings demonstrate (i) that FAP and FIF are allelic, and
(ii) that APC gene mutations which truncate the APC protein distal to the
beta-catenin binding domain are associated with desmoid tumours, absent
CHRPE and variable but attenuated polyposis expression.
相似文献
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