Molecular assessment of clonality leads to the identification of a new germ line XXXX mutation associated with @entity13392 and soft tissue sarcoma.

@entity1 @entity0 @entity5 @entity2734 @entity876 @entity6778 @entity3 @entity361 @entity13392
@entity13392 ( @entity13392 ) is a rare @entity0 composed of stromal and epithelial elements. It usually runs a benign course but it may metastasize. In a 31-year-old @entity1 with recurring @entity13392 , a @entity361 in the leg developed. The question arose whether the @entity5 could be a @entity3 from the @entity13392 , which would have major treatment consequences. The problem was addressed using molecular methods, i.e., comparison of the pattern of polymorphic repeat markers on chromosome 17p as well as single strand conformation polymorphism analysis and sequencing of exons 5 to 8 of the @entity876 gene in both @entity5 and normal tissue. An identical pattern of loss of heterozygosity in both @entity0 was demonstrated, but a different pattern was shown in the @entity5 in the leg. This led to the conclusion that the @entity5 had to be a new @entity5 . A mutation in codon 162 of the @entity876 gene was found in the @entity5 tissue as well as in the normal tissue of this @entity1 . This germ line mutation leads to the replacement of @entity6778 by @entity2734 and most likely has functional consequences. In all four examined @entity5 of this @entity1 , the normal @entity876 allele was lost. This is strong evidence that this germ line @entity876 mutation causes the genesis of these two rare primary @entity361 in this young @entity1 . The current study exemplifies the power of molecular diagnostic methods in investigating the specific clinical problem of clonal relation between two separate @entity5 . The germ line mutation found in codon 162 of the @entity876 gene and the association with @entity13392 phyllodes have not been described previously.
