Desmoid-type fibromatosis of the mesentery: a clinicopatho-logical and genetic analysis of 9 cases.
10.3724/zdxbyxb-2023-0117
- Author:
Qiupeng WANG
1
;
Lingna ZHANG
2
;
Shouxiang WENG
2
;
Jingjing ZHOU
2
;
Meifu GAN
2
Author Information
1. Department of Pathology, Taizhou Hospital, Wenzhou Medical University, Taizhou 317000, Zhejiang Province, China. wangqp@enzemed.com.
2. Department of Pathology, Taizhou Hospital, Wenzhou Medical University, Taizhou 317000, Zhejiang Province, China.
- Publication Type:Journal Article
- Keywords:
CTNNB1 gene;
Case report;
Desmoid-type fibromatosis, mesenteric;
Gastrointestinal tumor;
Histopathology;
Immunohistochemistry
- MeSH:
Male;
Female;
Humans;
Fibromatosis, Aggressive/diagnosis*;
Immunohistochemistry;
Fibroblasts/metabolism*;
Mesentery/pathology*;
beta Catenin/analysis*
- From:
Journal of Zhejiang University. Medical sciences
2023;52(3):379-385
- CountryChina
- Language:English
-
Abstract:
Nine cases of mesenteric desmoid-type fibromatosis were diagnosed and treated in Taizhou Hospital, Wenzhou Medical University between January 2010 and May 2022, including 2 females and 7 males, aged 16 to 59 years. The lesions were in the mesentery of small intestine with 7 cases, ileocecal junction with 1 cases and transverse colon with 1 case. The tumors had an unclear boundary and no envelope, the section was solid, gray and tough. The mean maximum diameter was (10.7±8.5) cm (range 3.5-33.0 cm). Microscopically, fusiform fibroblasts and myofibroblasts were parallel, bunched or staggered, buried in a large amount of extracellular collagen. The cell morphology was relatively consistent, without obvious atypia, and mitosis was rare. Immunohistochemistry showed that the tumor cells were positive for vimentin (9/9), β-catenin (9/9), while smooth muscle actin (5/9) stains were focally positive. Ki-67 proliferation index was 1%-10%. Cytokeratin Pan, S-100, STAT6, CD117, DOG1, CD34, desmin and anaplastic lymphoma kinase stains were negative. Genetic analysis showed that there were 7 cases of c.121G>A(p.Thr41Ala) mutation of CTNNB1 gene, 1 case of c.121G>A(p.Thr41Ala) and 1 case of c.134C>T(p.Ser45Phe) double mutation, and 1 case of wild type. Tumors were surgically resected in all 9 cases. Eight cases had no recurrence or metastasis, 1 case had recurrence 6 months later, and no recurrence or metastasis after additional surgical resection.
