Gunji Shutaro, Kawada Kenji, Kawada Mayumi, Hasegawa Suguru, Sakai Yoshiharu
Department of Surgery, Kyoto University Graduate School of Medicine, 54 Shogoin- Kawara-cho, Sakyo-ku, Kyoto, 606-8507, Japan.
J Med Case Rep. 2013 Apr 10;7:100. doi: 10.1186/1752-1947-7-100.
Desmoid tumors (also called aggressive fibromatosis) are histologically benign, but have a strong tendency to recur locally after resection. They are rare neoplastic tumors that may occur sporadically or in association with familial adenomatous polyposis caused by a germline mutation in the adenomatous polyposis coli gene. The etiology of desmoid tumors is unknown, but their association with a history of abdominal surgery, trauma, and estrogen therapy is well known.
A 36-year-old Asian woman was referred complaining of an abdominal tumor. She had no history of familial adenomatous polyposis, abdominal surgery, trauma or pregnancy. A laparoscopy-assisted right hemicolectomy with a minilaparotomy was conducted for resection of her right-side colon and the anterior wall of her duodenum. The histopathological diagnosis was a desmoid tumor that grew from the transverse mesocolon. Mutational analysis indicated a mutation of the β-catenin gene (CTNNB1), consisting of a substitution of threonine for alanine at codon 41. The patient has been followed postoperatively for more than 3 years without any sign of recurrence.
We report a case of sporadic colonic desmoid tumor which was resected by laparoscopic surgery. A successful outcome was achieved because there has been no local recurrence for more than 3 years. The tumor grew from the transverse mesocolon, and harbored a mutation of the CTNNB1 gene. Mutational analysis of CTNNB1 gene may play an important role as a prognostic marker of desmoid tumors.
韧带样瘤（也称为侵袭性纤维瘤病）在组织学上是良性的，但切除后有很强的局部复发倾向。它们是罕见的肿瘤性肿瘤，可散发发生或与由腺瘤性息肉病 coli 基因种系突变引起的家族性腺瘤性息肉病相关。韧带样瘤的病因尚不清楚，但其与腹部手术史、创伤和雌激素治疗的关联是众所周知的。
一名 36 岁的亚洲女性因腹部肿瘤前来就诊。她没有家族性腺瘤性息肉病、腹部手术、创伤或妊娠史。进行了腹腔镜辅助右半结肠切除术加小切口剖腹术，以切除其右侧结肠和十二指肠前壁。组织病理学诊断为起源于横结肠系膜的韧带样瘤。突变分析显示β-连环蛋白基因（CTNNB1）发生突变，第 41 密码子处的丙氨酸被苏氨酸取代。该患者术后随访超过 3 年，无任何复发迹象。
我们报告了一例经腹腔镜手术切除的散发性结肠韧带样瘤病例。由于 3 年多来没有局部复发，取得了成功的结果。肿瘤起源于横结肠系膜，并携带 CTNNB1 基因突变。CTNNB1 基因的突变分析可能作为韧带样瘤的预后标志物发挥重要作用。
