延胡索酸水合酶缺陷型肾细胞癌伴肉瘤样分化1例

Fumarate Hydratase-Deficient Renal Cell Carcinoma with Sarcomatoid Differentiation: One Case Report

摘要: 延胡索酸水合酶缺陷型肾细胞癌(Fumarate Hydratase-Deficient Renal Cell Carcinoma, FH-RCC)伴肉瘤样分化因较罕见，临床易误诊为其他肾癌亚型。本文报道一例由云南省大理大学第一附属医院收治的因“间断腹痛1年，发现左肾占位及盆腔肿物1周”来诊的患者，病程迁延隐匿，无肾癌典型特异性症状。行影像学检查后同时发现左肾占位性病变及盆腔包块，其中左肾病变形态不规则、强化不均、弥散明显受限，具有恶性肿瘤影像学特征，盆腔为囊性为主混杂占位，考虑为卵巢来源肿瘤，经多学科会诊充分评估患者病情后行手术治疗。术后病理及免疫组化结果最终确诊：左肾占位为延胡索酸水合酶缺陷型肾细胞癌伴肉瘤样分化，盆腔占位为卵巢黏液性囊腺瘤伴局灶上皮增殖(交界性成分 < 10%)。本文通过报道这一罕见病例，以期加深临床及影像医师对FH-RCC伴肉瘤样分化的认识，提高早期识别与鉴别诊断水平，从而有效降低临床误诊及漏诊率。

Abstract: Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) with sarcomatoid differentiation is rare and is easily misdiagnosed as other renal cell carcinoma subtypes. This paper reports a patient who was admitted to the First Affiliated Hospital of Dali University in Yunnan Province due to “intermittent abdominal pain for 1 year and found left renal mass and pelvic mass for 1 week”. The course of the disease was prolonged and insidious, and there was no typical specific symptom of renal cell carcinoma. After imaging examination, the left renal space-occupying lesions and pelvic mass were found at the same time. Among them, the left renal lesions were irregular in shape, uneven in enhancement, significantly limited in diffusion, and had the imaging characteristics of malignant tumors. The pelvic cavity was mainly cystic mixed space-occupying lesions, which was considered to be ovarian-derived tumors. After multidisciplinary consultation, the patient’s condition was fully evaluated and surgical treatment was performed. Postoperative pathology and immunohistochemical results were finally confirmed: the left renal mass was fumarate hydratase-deficient renal cell carcinoma with sarcomatoid differentiation, and the pelvic mass was ovarian mucinous cystadenoma with focal epithelial proliferation (borderline component < 10%). This article reports this rare case in order to deepen the understanding of clinical and imaging physicians on FH-RCC with sarcomatoid differentiation, improve the level of early identification and differential diagnosis, and effectively reduce the rate of clinical misdiagnosis and missed diagnosis.