Devezas Vítor, Barbosa Laura Elisabete, Ramalho Rosa, Sarmento Cristina, Maia José Costa
Centro Hospitalar de São João, Department of Surgery. Porto, Portugal.
University of Porto, Faculty of Medicine, Department of Surgery. Porto, Portugal.
Autops Case Rep. 2018 Sep 26;8(4):e2018045. doi: 10.4322/acr.2018.045. eCollection 2018 Oct-Dec.
Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.
硬纤维瘤起源于结缔组织、筋膜和腱膜，可发生于家族性腺瘤性息肉病背景下，也可散发性发生；此外，它们可位于腹外、腹内或腹壁。这些良性肿瘤具有很强的侵袭性，局部复发率很高。家族性腺瘤性息肉病是一种常染色体显性遗传的遗传性疾病，其特征是结肠和直肠出现多个腺瘤性息肉以及硬纤维瘤。我们报告一例54岁携带种系基因突变的女性病例，该患者接受了全结肠切除术，随后出现两个与硬纤维瘤相符的大的浸润性腹内实性病变。开始使用Cox-2抑制剂进行药物治疗但无效。她因肠梗阻接受了切除术，但出现了局部复发。病变对他莫昔芬也无反应，于是开始使用达卡巴嗪加阿霉素进行化疗，后改用长春瑞滨加甲氨蝶呤，12个月后所有病变均有良好反应。对于这些腹内病变的处理应循序渐进，首先进行观察，然后采用非甾体抗炎药或抗激素药物进行药物治疗。之后，如果仍有明显进展，则应开始化疗。手术应保留用于对药物治疗耐药、姑息治疗情况或腹外或腹壁硬纤维瘤。
