Intrathoracic sporadic desmoid tumor with the beta-catenin gene mutation in exon 3 and activated cyclin D1.
We report a case of intrathoracic desmoid tumor without familial adenomatous polyposis and demonstrate beta-catenin mutation of exon 3. A 15-year-old male presented with a desmoid tumor after having sustained an assault. In an examination for a mutation of the beta-catenin gene, an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. Immunohistochemical staining showed that accumulated beta-catenin protein was predominantly localized in the nuclei of desmoid cells, and cyclin D1 protein was also overexpressed. These findings might suggest that an activating mutation of the beta-catenin gene affected regulation of the cyclin D1 gene, resulting in the generation of intrathoracic sporadic desmoid tumor, which arose at the site of posttraumatic injury.
Tajima
Shunji
S
Department of Medicine, Division of Pulmonary Medicine, Jichi Medical School, Tochigi, Japan. tajimash@jichi.ac.jp
Hironaka
Mitsugu
M
Oshikawa
Katsuhisa
K
Bando
Masashi
M
Ohno
Shoji
S
Saito
Ken
K
Sohara
Yasunori
Y
Sugiyama
Yukihiko
Y
D000293:Adolescent; D019938:Cyclin D1 / Q000235:genetics*; D005091:Exons; D018222:Desmoid Tumors / Q000000981:diagnostic imaging / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D009154:Mutation; D013899:Thoracic Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D051176:beta Catenin / Q000235:genetics*
D051176:beta Catenin; D019938:Cyclin D1