Division of Urology, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
J Chin Med Assoc. 2011 Nov;74(11):500-4. doi: 10.1016/j.jcma.2011.09.005. Epub 2011 Nov 1.
Xp11.2 translocation renal cell carcinoma (RCC), a recently recognized distinct subtype of RCC, is characterized by various translocations, all involving the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults and comprise about one-third of pediatric RCCs. In the present study, we review the clinical course of Xp11.2 translocation renal cell carcinoma in our institution.
We identified eight cases with Xp11.2 translocation RCC between 2007 and 2010 from the pathological archives of the Taipei Veterans General Hospital. We retrospectively analyzed the patients' characteristics, clinical manifestations, and specific pathological features for definitive diagnosis, surgical and systemic treatment and clinical outcome of these rare cancers.
Patients were aged 20 years to 49 years (mean age 28 years) with female predominance (6 females, 2 males). One patient presented with asymptomatic renal mass detected incidentally during abdominal sonography. Four patients complained of flank or abdominal pain, and the other three complained of gross hematuria at initial presentation. The mean tumor size was 9.2 cm (range, 4 cm-17 cm). Seven patients underwent radical nephrectomy for the primary tumor, while one presented with multiple metastases. All cases were confirmed by TFE3 immunohistochemistry, a sensitive and specific marker of tumors with TFE3 gene fusion, which showed positive nuclear staining. Three patients presented initially with metastatic diseases, and another three patients progressed to lung, liver and bone metastases at eight, seven and nine months postoperatively.
Although RT-PCR and DNA sequencing are the final diagnoses of the molecular identity of Xp11.2 translocation RCC, experienced pathologists could confirm the histologic diagnosis based on the distinctive morphologic features with positive TFE3 immunochemical nuclear stain. Surgical resection is the only treatment. The role of systemic therapy for local recurrence and metastasis remains to be determined.
Xp11.2 易位肾细胞癌（RCC）是一种最近被确认的 RCC 独特亚型，其特征是存在各种易位，所有这些易位均涉及 TFE3 转录因子基因。这些罕见的癌症主要发生在儿童和年轻成人中，占儿童 RCC 的约三分之一。在本研究中，我们回顾了我院 Xp11.2 易位 RCC 的临床病程。
我们从台北荣民总医院的病理档案中确定了 2007 年至 2010 年间的 8 例 Xp11.2 易位 RCC 病例。我们回顾性分析了这些罕见癌症患者的特征、临床表现和特定的病理特征，以明确诊断、手术和系统治疗以及临床结局。
患者年龄为 20 岁至 49 岁（平均年龄 28 岁），女性居多（6 例女性，2 例男性）。1 例患者因腹部超声检查意外发现无症状性肾肿块而就诊。4 例患者主诉腰痛或腹痛，另外 3 例患者最初表现为肉眼血尿。肿瘤平均大小为 9.2cm（范围 4cm-17cm）。7 例患者行根治性肾切除术治疗原发性肿瘤，1 例患者因多发转移就诊。所有病例均通过 TFE3 免疫组织化学证实，该标志物是 TFE3 基因融合肿瘤的敏感和特异性标志物，显示阳性核染色。3 例患者最初表现为转移性疾病，另外 3 例患者在术后 8、7 和 9 个月时进展为肺、肝和骨转移。
虽然 RT-PCR 和 DNA 测序是 Xp11.2 易位 RCC 分子特征的最终诊断方法，但经验丰富的病理学家可以根据具有阳性 TFE3 免疫化学核染色的独特形态特征来确认组织学诊断。手术切除是唯一的治疗方法。全身治疗对局部复发和转移的作用仍有待确定。
