背景:透明细胞肉瘤(CCS)是一种极为罕见的肉瘤,占所有软组织肉瘤的不到1%。它有形态学,结构,免疫组织化学与恶性黑色素瘤相似,影响年轻人,同样影响两性,通常位于四肢的腱鞘和腱膜中。胃肠道定位是特殊的,到目前为止,报告的病例不到100例。激活转录因子1(ATF1)与尤文肉瘤断点区1(EWSR1)的基因融合是透明细胞肉瘤的病理标志,代表诊断的关键。CCS是一种极具侵袭性的肿瘤,>30%在诊断时发生远处或淋巴转移,诊断后的第一年复发率高达80%以上,转移扩散的趋势很高。鉴于这种肿瘤的罕见性,没有标准化的治疗方法。早期诊断和根治性手术对于CCS的原发灶和复发或转移的治疗至关重要。化疗放疗效果甚微,很少被指示,靶向治疗的作用仍在研究中。病例介绍:我们介绍了一名44岁的白人女性中极为罕见的肠道CSS病例。病人,无症状,首次接受常规检查,并被诊断为轻度缺铁性贫血.鉴于她有多种消化道癌症的家族史,要求进行额外的调查(胃镜检查,结肠镜检查,肿瘤标志物和影像学),结果均在正常范围内。在随后的时期,患者出现轻度弥漫性复发性腹痛,每2-3个月发生一次。两年后,该患者出现肠梗阻症状,并接受了紧急剖腹手术,然后进行了节段性肠管切除术和区域性淋巴结切除术,以治疗空肠狭窄肿瘤。组织学,免疫组织化学,基因检测建立了CCS的诊断。无辅助治疗。最初,没有发现复发或转移的迹象,但30个月和46个月后,分别,从初级治疗开始,该患者发生肝转移,并通过非典型肝切除术和右半结肠切除术治疗腹膜腹膜植入物。患者仍在观察中。
Background: Clear cell sarcoma (CCS) is an extremely rare form of sarcoma representing less than 1% of all soft-tissue sarcomas. It has morphological, structural, and immunohistochemical similarities to malignant melanoma, affecting young adults and equally affecting both sexes, and is usually located in the tendinous sheaths and aponeuroses of the limbs. Gastrointestinal localization is exceptional, with less than 100 cases reported thus far. The gene fusion of activating transcription factor 1 (ATF1) and the Ewing sarcoma breakpoint region 1 (EWSR1) are pathognomonic for clear cell sarcoma, representing the key to the diagnosis. CCS is an extremely aggressive tumor, with >30% having distant or lymphatic metastasis at the time of diagnostic, and it has a high recurrence rate of over 80% in the first year after diagnosis and a high tendency for metastatic dissemination. Given the rarity of this tumor, there is no standardized treatment. Early diagnosis and radical surgery are essential in the treatment of CCS both for the primary tumor and for recurrence or metastasis. Chemo-radiotherapy has very little effect and is rarely indicated, and the role of targeted therapies is still under investigation. Case presentation: We present an extremely rare case of intestinal CSS in a 44-year-old Caucasian female. The patient, asymptomatic, first presented for a routine checkup and was diagnosed with mild iron-deficiency anemia. Given her family history of multiple digestive cancers, additional investigations were requested (gastroscopy, colonoscopy, tumoral markers and imaging) and the results were all within normal limits. In the subsequent period, the patient experienced mild diffuse recurrent abdominal pain, which occurred every 2-3 months. Two years later, the patient presented with symptoms of intestinal obstruction and underwent an emergency laparotomy followed by segmental enterectomy and regional lymphadenectomy for stenotic tumor of the jejunum. Histology, immunohistochemistry, and genetic testing established the diagnosis of CCS. No adjuvant therapy was indicated. Initially, no signs of recurrence or metastasis were detected, but after 30 and 46 months, respectively, from the primary treatment, the patient developed liver metastasis and pericolic peritoneal implants treated by atypical hepatic resections and right hemicolectomy. The patient remains under observation.