Malignant melanoma:An important differential diagnosis for clear cell sarcoma of the gastrointestinal tract

A case report by Liu et al describes the characteristics of metastatic clear cell sarcoma(CCS)of the pancreas and provides valuable therapeutic insights for this rare malignancy.This case is interesting because of its rarity,suggesting that the pancreas may be a potential target organ for CCS,either primary or metastatic.At the same time,the authors also emphasize the importance of regular postoperative follow-up for timely detection of recurrent lesions,as CCS is characterized by a high degree of malignancy and a high rate of recurrent metastases.Considering that CCS of the gastrointestinal tract is easily confused with malignant melanoma(MM)of the gastrointestinal tract,here we compare the clinical features,histopathological and immunohistochemical characteristics,diagnosis,treatment,and prognosis of CCS and MM of the gastrointestinal tract,hoping to provide a reference for clinical work.

Postoperative multiple metastasis of clear cell sarcoma-like tumor of the gastrointestinal tract in adolescent:A case report

BACKGROUND Clear cell sarcoma-like tumor of the gastrointestinal tract(CCSLGT)is a rare malignant gastrointestinal mesenchymal soft tissue tumor.Its genetic feature is EWSR1 gene rearrangement.Histologically,it is often accompanied by a varying number of CD68-positive osteoclast-like giant cells.CCSLGT mostly occurs in the small intestinal wall of young people and children.In terms of clinical manifestations,there is no significant difference between it and other gastrointestinal tumors,and the diagnosis depends on immunohistochemistry and gene detection.CASE SUMMARY A 16-year-old man developed dizziness and fatigue 2 mo ago,and 10 d ago showed progressive exacerbation of paroxysmal epigastric pain and stopped flatulence and defecation.Computed tomography showed a soft tissue mass in the distal ileum.After complete resection of the lesion,it was diagnosed by combined immunohistochemical and genetic examination as CCSLGT.After surgery,the patient gradually developed lymph node,liver,lung,bone,left thigh,pleura and adrenal metastasis.The survival time was 4 years and 8 mo.CONCLUSION Whole abdominal computed tomography enhancement is recommended for patients with gastrointestinal symptoms.There is no effective treatment for CCSLGT with multiple metastases via the lymphatic system and bloodstream after surgical resection.

Clear cell sarcoma of the jejunum—Surgical management in two patients with review of the literature

Clear cell sarcoma is usually described as a malignant melanoma of the soft tissues. The overall prognosis is poor because of delay in diagnosis and vague clinical symptoms. It is rarely involved in the gastrointestinal tract, and its diagnosis is often missed secondary to infrequent occurrence and histological resemblance to melanoma. We present two cases of primary CCS of the jejunum whose clinical presentations were complicated by lymph node involvement. Prompt diagnosis and potential aggressive surgical intervention may improve overall survival.

Multiple clear-cell sarcomas of small intestine with parotid gland metastasis: A case report

Clear-cell sarcoma is a rare, malignant soft tissue tumor that displays melanocytic differentiation with a distinct molecular profile. It is rarely localized in the gastrointestinal tract. Herein we reported a case of multiple synchronous clear-cell sarcomas of the gastrointestinal tract with parotid gland metastasis. A 51-year-old male patient presented with a growing painless mass under the right ear. A preoperative positron emission tomography/computed tomography showed multiple intestinal masses and a mass in the right parotid with increased glucose uptake, and he underwent operative treatment with resection of three tumors in the jejunum and ileum and then received a right parotidectomy. Postoperative pathological examination showed that cells in the intestinal tumor were consistent with clear-cell sarcoma of the gastrointestinal tract, and the malignant cells in the parotid gland were similar to the intestinal tumor. Immunohistochemical studies revealed positive expression of HMB-45, Melan-A, and S-100. EWSR1 gene fusion transcripts were undetectable by fluorescence in situ hybridization.

Malignant Extragastrointestinal Neuroectodermal Tumor Located at Right Cervical Region

Malignant Gastrointestinal Neuroectodermal Tumor (GNET) is a recently described rare malignant neoplasm, resembling “clear cell sarcoma of tendons and aponeuroses” morphologically, immunohistochemically and molecular pathologically. We will describe a case of soft tissue sarcoma located at right cervical region of a 9-year-old male patient, mimicking malignant GNET, which can be considered as extragastrointestinal counterpart of this tumor. These tumors have poor prognosis. This is unique, possibly the first case of a soft tissue sarcoma resembling GNET.

恶性胃肠道神经外胚层肿瘤临床病理分析

目的:研究恶性胃肠道神经外胚层肿瘤(malignant gastrointestinal neuroectodermal tumor,MGNET)的临床病理学和分子特征、诊断、鉴别诊断和预后,以提高对该病的认识。方法:报道2例我院诊断的恶性胃肠道神经外胚层肿瘤,分析临床和影像学特征、组织形态学、免疫表型、分子遗传学和预后,并回顾相关文献。结果:病例1、2分别为28岁、45岁女性,CT提示盆腔占位及肠壁增厚。大体表现为肠壁肿块,显微镜下短梭形肿瘤细胞排列成片状、巢状、腺泡状和假乳头状,伴有散在的多核巨细胞。2例肿瘤都表达S-100,伴有EWSR1(22q12)易位,诊断为恶性胃肠道神经外胚层肿瘤。病例1术后6个月,CT考虑术后复发。病例2术后16个月,PET-CT提示肝脏腹腔多发肿瘤转移,19个月后去世。结论:恶性胃肠道神经外胚层肿瘤是一种罕见且高侵袭性的软组织肿瘤。在临床工作中应考虑到此类罕见肿瘤,并合理选用免疫组化指标及基因检测。目前手术切除是主要的治疗方法,手术切除后的化疗尚无共识。

胃肠道透明细胞肉瘤临床病理分析并文献复习

目的探讨胃肠道透明细胞肉瘤(clear cell sarcoma of the gastrointestinal tract,CCS-GI)的临床病理特征及遗传学特点。方法对1例CCS-GI进行组织学观察、免疫组化染色、荧光原位杂交(fluorescence in situ hybridization,FISH)检测,并复习相关文献。结果患者女性,因"腹痛1周"入院,CT检查示右半结肠肿瘤,肉眼观察结肠黏膜面可见一溃疡型肿块,切面灰白、实性、质嫩,侵及全层。镜下见中等大小的圆形或卵圆形肿瘤细胞呈片状排列,肿瘤细胞间可见散在分布的破骨细胞样多核巨细胞。肿瘤细胞S-100蛋白弥漫阳性,HMB-45、Melan-A、CD117、CD1a及PCK均阴性。FISH检测结果示74%的肿瘤细胞存在EWSR1基因易位。结论 CCS-GI是一种特殊类型的胃肠道肿瘤,具有独特的组织学、免疫表型、超微结构及遗传学特征,该类肿瘤中的胃肠道透明细胞肉瘤样肿瘤亚型是否为一个独立的病变实体,尚需增加病例量进一步研究,包括细胞遗传学和分子生物学的相关研究。

恶性胃肠道神经外胚层肿瘤3例临床病理学分析

目的探讨恶性胃肠道神经外胚层肿瘤(gastrointestinal neuroectodermal tumors,GNET)的临床、组织学、超微结构、免疫表型和分子特征、诊断和鉴别诊断。方法收集2013—2022年间空军军医大学西京医院诊断为恶性GNET病例3例。对手术切除标本进行组织学、超微结构观察,免疫组织化学以及分子遗传学检测,并随访患者。结果患者中男性2例,女性1例,肿瘤分别发生于回肠、降结肠和直肠。肿瘤最大径2~4 cm,包膜不完整,切面实性、灰白质韧。镜下大多数瘤细胞呈短梭形或卵圆形,局部上皮样,具有弱嗜酸性或透明胞质,呈实性片状或巢状分布,或假腺泡状排列。电镜观察显示神经内分泌分化,未见黑色素小体。免疫组织化学染色,瘤细胞呈S-100蛋白、SOX10、CD56、突触素和波形蛋白弥漫阳性,而黑色素标志物HMB45和Melan A均阴性。荧光原位杂交检测,3例均显示EWSR1基因重排。1例进行二代基因测序,检测到EWSR1-ATF1基因融合。患者分别随访6个月、3年及5年,复查均提示肺或肝转移,其中1例死亡。结论恶性GNET是一种罕见的胃肠道恶性间叶组织肿瘤,具有独特的组织形态、免疫表型和分子遗传学特征,需与具有类似形态和免疫表型的胃肠道肿瘤鉴别,尤其是透明细胞肉瘤及黑色素瘤等。

原发性胃肠道透明细胞肉瘤一例及文献复习

目的探讨原发性胃肠道透明细胞肉瘤的临床病理特点、鉴别诊断及生物学行为。方法收集1例原发性胃肠道透明细胞肉瘤病例的临床资料,行光镜观察、免疫组织化学(Envision法)标记和电镜观察,并复习相关文献。结果肿瘤位于回肠末端。组织学上,病变位于黏膜下,周界不清,明显浸润性生长,见淋巴结转移。肿瘤组织主要呈弥漫片状、巢状排列,其间散在多核破骨细胞样巨细胞,分布疏密不均。肿瘤细胞形态相对一致,呈短梭形、卵圆形,胞质丰富,透亮或略嗜酸。免疫组化标记显示,肿瘤细胞弥漫阳性表达S-100,破骨样巨细胞表达CD68,Ki-67增殖指数约20%。电镜观察显示瘤细胞内未见典型黑色素小体和神经内分泌颗粒,破骨样巨细胞则具有组织细胞分化。随访结果显示患者于术后21个月死亡。结论原发性胃肠道透明细胞肉瘤是一种非常少见的肿瘤,具有高度侵袭性,预后差,对该肿瘤确诊依赖于临床表现、组织学形态、免疫表型相结合,且需要和其他肿瘤如转移性透明细胞肉瘤、上皮样胃肠道间质瘤,伴破骨样巨细胞的平滑肌肉瘤及血管周上皮样细胞肿瘤等鉴别。

胃肠道恶性神经外胚层肿瘤四例临床病理学分析

目的探讨胃肠道恶性神经外胚层肿瘤(malignant gastrointestinal neuroectodermal tumor,MGNET)的临床病理及分子病理学特征,并分析其预后。方法收集2013年7月至2019年1月福建省立医院诊断的4例MGNET,对4例进行HE染色、免疫组织化学染色及分子病理学研究,复习文献并综合分析。结果男女各2例,年龄34~81岁(平均年龄57岁),肿块最大径5~9 cm(平均6.8 cm)。病理组织学上表现相似,瘤细胞排列成实性、片状、巢状或假腺样,部分呈小圆形细胞样;瘤细胞上皮样、卵圆形或短梭形,可见核仁,部分呈小细胞样,胞质嗜酸性或透明样,核分裂象(2~10)/10 HPF,可见散在分布破骨样多核巨细胞。免疫表型:瘤细胞呈S-100蛋白(4/4)、SOX10(4/4)、突触素(2/4)、INI1(4/4)、H3K27Me3(4/4)、波形蛋白(4/4)阳性。Ki-67阳性指数热点区域15%~90%。4例均检测到EWSR1基因分离信号,2例未见C-KIT、PDGFRα基因突变。结论MGNET属于胃肠道罕见恶性软组织肿瘤,诊断需结合临床病理、免疫表型及EWSR1基因检测。治疗以手术切除和化疗为主,预后较差。