Academic General Surgery Unit, Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro" Medical School, 11, Piazza Giulio Cesare, 70124, Bari, Italy.
General Surgery and Liver Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari "Aldo Moro" Medical School, Bari, Italy.
Clin Exp Med. 2023 Jul;23(3):607-617. doi: 10.1007/s10238-022-00849-6. Epub 2022 Aug 1.
Sporadic intra-abdominal desmoid tumors are rare and known to potentially occur after trauma including previous surgery, although knowledge of the underlying pathogenetic mechanism is still limited. We reviewed the recent literature on sporadic intraabdominal desmoids and inflammation as we investigated the mutational and epigenetic makeup of a case of multiple synchronous mesenterial desmoids occurring after necrotizing pancreatitis. A 62-year-old man had four mesenteric masses up to 4.8 cm diameter detected on CT eighteen months after laparotomy for peripancreatic collections from necrotizing pancreatitis. All tumors were excised and diagnosed as mesenteric desmoids. DNA from peripheral blood was tested for a multigene panel. The tumour DNA was screened for three most frequent β-catenin gene mutations T41A, S45F and S45P. Expression levels of miR-21-3p and miR-197-3-p were compared between the desmoid tumors and other wild-type sporadic desmoids. The T41A CTNNB1 mutation was present in all four desmoid tumors. miR-21-3p and miR-197-3p were respectively upregulated and down-regulated in the mutated sporadic mesenteric desmoids, with respect to wild-type lesions. The patient is free from recurrence 34 months post-surgery. The literature review did not show similar studies. To our knowledge, this is the first study to interrogate genetic and epigenetic signature of multiple intraabdominal desmoids to investigate potential association with abdominal inflammation following surgery for necrotizing pancreatitis. We found mutational and epigenetic features that hint at potential activation of inflammation pathways within the desmoid tumor.
散发性腹腔内硬纤维瘤比较罕见,已知其可能在创伤后发生,包括既往手术,尽管其潜在发病机制的知识仍然有限。我们复习了关于散发性腹腔内硬纤维瘤和炎症的近期文献,因为我们调查了一例发生在坏死性胰腺炎后的多发性肠系膜硬纤维瘤的突变和表观遗传特征。一名 62 岁男性在剖腹手术后 18 个月因坏死性胰腺炎的胰周积液而出现 4 个直径达 4.8cm 的肠系膜肿块。所有肿瘤均被切除并诊断为肠系膜硬纤维瘤。对周围血 DNA 进行了多基因检测。对肿瘤 DNA 进行了最常见的三个β-连环蛋白基因突变 T41A、S45F 和 S45P 的筛选。比较了突变的散发性肠系膜硬纤维瘤和其他野生型散发性硬纤维瘤之间的 miR-21-3p 和 miR-197-3-p 的表达水平。T41A CTNNB1 突变存在于所有 4 个硬纤维瘤中。与野生型病变相比,miR-21-3p 和 miR-197-3p 在突变的散发性肠系膜硬纤维瘤中分别上调和下调。该患者术后 34 个月无复发。文献复习未显示类似的研究。据我们所知,这是第一项研究通过调查多个腹腔内硬纤维瘤的遗传和表观遗传特征来研究与坏死性胰腺炎手术后腹部炎症的潜在关联。我们发现了突变和表观遗传特征,提示硬纤维瘤内炎症途径可能被潜在激活。