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摘要

摘要血管周围上皮样细胞瘤(PEComa)是一种罕见的肿瘤，其临床结果难以预测。这是一组间质肿瘤，存在血管周围上皮样细胞(PEC)，已知黑素标记HMB-45阳性染色。它们可能发生在许多不寻常的部位，包括肾脏。肾PEComa以前被归类为血管平滑肌脂肪瘤，其存在也很罕见。小儿胸肌瘤更加罕见，全世界只有不到40例，以前也没有涉及肾脏的病例。我们报告一例7岁男童，出现腹部肿块，经证实为非典型上皮样血管平滑肌脂肪瘤(AAML)型肾PEComa。对这个有趣的实体的临床管理和文献综述进行了讨论。

关键字

儿童，PEComa，非典型血管平滑肌脂肪瘤

案例展示

一个以前健康的7岁男孩被他的祖母注意到有一个凸起的右侧腹部持续一周。她还注意到这个男孩没有食欲，也不太活跃。无腹痛、排便习惯异常或血尿等尿路症状。既无发热史提示感染，也无外伤史。经检查，男孩健康，无症状。他没有面色苍白或黄疸，生命体征稳定。右侧腰部有明显隆起。隆起为9厘米X 9厘米的大肿块。肿块呈球形，说明是右肾。没有其他器官肿大。 Blood investigations were done which included full blood count, renal profile, tumor markers for malignant germ cell tumour and teratoma and liver function test. All the blood investigations were normal. Radiological imaging was done concurrently; the abdominal ultrasound showed a mass arising from the right kidney, measuring 11.5 cm x 6.4 cm x 9.4 cm. It was a combined solid cystic mass with no calcifications seen. CT scan of the abdomen confirmed the findings and showed that the mass was exophytic in nature, localised with no invasion to surrounding structure. There was no caval involvement or aortocaval adenopathy. The other solid organs and lung bases were normal (Figure 1). The provisional diagnosis was a renal sarcoma with a differential diagnosis of renal cell carcinoma. An ultrasound guided percutaneous biopsy was performed which was reported as melanocytic angiomyolipoma. We proceeded to do open right nephro-ureterectomy; intraoperatively the tumor was quite vascularized, surgery went well without problems. We bisected the specimen to reveal an unusual looking tumor (Figure 2). Post operatively, the patient was well and discharged home at day 5. The pathological examination of the tumor revealed macroscopically the tumor was irregular, fragile, and blackishin color, located at the lower pole of the right kidney measuring 8.5 cm X 4.5 cm X 6.5 cm. The tumor extended into the renal pelvis and capsule but did not appear to breach the capsule. Microscopically, the tumor was composed of sheets and nests and perivascular cuffing of large polygonal epithelioid cells. These cells had mildly pleomorphic, vesicular nuclei with prominent nucleoli and abundant granular to clear cytoplasm. The cells were densely pigmented by melanin. Mitotic figure were rarely seen. The tumor was seen invading but not breaching the renal capsule. The ureter was free from tumor. The adjacent renal parenchyma was compressed by the tumor bulk. No lymphovascular invasion was seen. Immunohistochemically, the tumor cells were positive for HMB45 and Melan A but negative for CD10. These descriptions were diagnostic for PEComa, non-malignant. The patient came for regular follow up and serial ultrasound imaging; at one year follow up the patient remained well and radiologically there was no recurrence of tumor.

图1所示。CT扫描显示右侧肾肿瘤(R=右)

图2。右肾肿瘤一分为二显示一个奇怪的色素沉着肿瘤

讨论

7岁儿童的肾脏肿瘤是不常见的，并提出一系列不寻常的诊断。肾母细胞瘤是儿童最常见的肾癌，在5岁以上的患者中也不常见。一名儿童肾肿瘤起源于血管周围上皮样细胞(PEC)，引起了人们对如何最好地处理这种肿瘤的关注。1992年，Bonetti首次描述了以黑素体标记HMB-45为特征的血管周围上皮样细胞(PEC)et al。[1,2]。Zamboni在1996年进一步将其描述为一组伴有PEC的间充质肿瘤，称为PEComaet al。[1 - 3]。除了黑素小体HMB-45外，pecoma还产生黑色素A和黑色素瘤相关抗原CD63阳性染色[1-7]。pecoma包括多种肿瘤，如血管平滑肌脂肪瘤、淋巴管平滑肌瘤病、血管周围上皮样细胞腹盆腔肉瘤、镰状韧带/圆韧带透明细胞肌黑色素细胞瘤和肺透明细胞糖瘤[8-13]。2006年，潘et al。研究了8例泌尿生殖道PEComas(3例起源于肾脏)，发现16p[10]上存在TSC2位点的相关缺失。肾pecoma的谱系包括血管平滑肌脂肪瘤(AML)的变种，即经典的血管平滑肌脂肪瘤(CAML)和上皮样血管平滑肌脂肪瘤(EAML)。EAML又分为非典型上皮样血管平滑肌脂肪瘤(AAML)和恶性肾上皮样血管平滑肌脂肪瘤(MEAML)。在肾PEComa中很难确定是否存在恶性肿瘤，建议的指标是有丝分裂活性指数高，肿瘤大小和有无血管侵犯[1,8,10,14,15]。在我们的患者中，很少看到有丝分裂图，也没有淋巴血管侵犯，这表明它更可能不是恶性的。然而，多形性细胞中大量颗粒状至透明的细胞质使人怀疑其为AAML[1,15,16]。从文献中也知道，AAML肾PEComa很难与肾细胞癌(RCC)区分[1,10,14,15,16]。我们选择在手术后的第一年进行3个月一次的腹部超声检查来监测这个孩子。许多关于PEComa的文献侧重于肿瘤的组织学和鉴别，并在一定程度上有助于临床-病理预测，但几乎没有关于治疗和管理的标准方案[1,10,15,16]。从文献中发现，恶性变化发生时，肿瘤对化疗的反应趋于变化，有时可能复发，需要多次手术治疗[8,14]。

结论

已有一些儿童EAML肾PEComa的报道，这给诊断和治疗带来了挑战，但大多数病例报告为恶性型血管平滑肌脂肪瘤(MEAML)[14,17,18]。这名儿童患者的EAML肾PEComa的AAML变体让我们思考如何应对未来复发和潜在的恶性变化。对于这个男孩，我们计划终身随访并监测复发情况。我们希望有更多关于EAML肾PEComa的AAML变体的研究，以帮助更好地理解肿瘤行为或未来开发有助于监测肿瘤侵袭的肿瘤标记物;这些步骤对于被诊断出患有这种不幸疾病的儿童尤为重要。

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摘要

摘要血管周围上皮样细胞瘤(PEComa)是一种罕见的肿瘤，其临床结果难以预测。这是一组间质肿瘤，存在血管周围上皮样细胞(PEC)，已知黑素标记HMB-45阳性染色。它们可能发生在许多不寻常的部位，包括肾脏。肾PEComa以前被归类为血管平滑肌脂肪瘤，其存在也很罕见。小儿胸肌瘤更加罕见，全世界只有不到40例，以前也没有涉及肾脏的病例。我们报告一例7岁男童，出现腹部肿块，经证实为非典型上皮样血管平滑肌脂肪瘤(AAML)型肾PEComa。对这个有趣的实体的临床管理和文献综述进行了讨论。

关键字

儿童，PEComa，非典型血管平滑肌脂肪瘤

案例展示

一个以前健康的7岁男孩被他的祖母注意到有一个凸起的右侧腹部持续一周。她还注意到这个男孩没有食欲，也不太活跃。无腹痛、排便习惯异常或血尿等尿路症状。既无发热史提示感染，也无外伤史。经检查，男孩健康，无症状。他没有面色苍白或黄疸，生命体征稳定。右侧腰部有明显隆起。隆起为9厘米X 9厘米的大肿块。肿块呈球形，说明是右肾。没有其他器官肿大。 Blood investigations were done which included full blood count, renal profile, tumor markers for malignant germ cell tumour and teratoma and liver function test. All the blood investigations were normal. Radiological imaging was done concurrently; the abdominal ultrasound showed a mass arising from the right kidney, measuring 11.5 cm x 6.4 cm x 9.4 cm. It was a combined solid cystic mass with no calcifications seen. CT scan of the abdomen confirmed the findings and showed that the mass was exophytic in nature, localised with no invasion to surrounding structure. There was no caval involvement or aortocaval adenopathy. The other solid organs and lung bases were normal (Figure 1). The provisional diagnosis was a renal sarcoma with a differential diagnosis of renal cell carcinoma. An ultrasound guided percutaneous biopsy was performed which was reported as melanocytic angiomyolipoma. We proceeded to do open right nephro-ureterectomy; intraoperatively the tumor was quite vascularized, surgery went well without problems. We bisected the specimen to reveal an unusual looking tumor (Figure 2). Post operatively, the patient was well and discharged home at day 5. The pathological examination of the tumor revealed macroscopically the tumor was irregular, fragile, and blackishin color, located at the lower pole of the right kidney measuring 8.5 cm X 4.5 cm X 6.5 cm. The tumor extended into the renal pelvis and capsule but did not appear to breach the capsule. Microscopically, the tumor was composed of sheets and nests and perivascular cuffing of large polygonal epithelioid cells. These cells had mildly pleomorphic, vesicular nuclei with prominent nucleoli and abundant granular to clear cytoplasm. The cells were densely pigmented by melanin. Mitotic figure were rarely seen. The tumor was seen invading but not breaching the renal capsule. The ureter was free from tumor. The adjacent renal parenchyma was compressed by the tumor bulk. No lymphovascular invasion was seen. Immunohistochemically, the tumor cells were positive for HMB45 and Melan A but negative for CD10. These descriptions were diagnostic for PEComa, non-malignant. The patient came for regular follow up and serial ultrasound imaging; at one year follow up the patient remained well and radiologically there was no recurrence of tumor.

讨论

7岁儿童的肾脏肿瘤是不常见的，并提出一系列不寻常的诊断。肾母细胞瘤是儿童最常见的肾癌，在5岁以上的患者中也不常见。一名儿童肾肿瘤起源于血管周围上皮样细胞(PEC)，引起了人们对如何最好地处理这种肿瘤的关注。1992年，Bonetti首次描述了以黑素体标记HMB-45为特征的血管周围上皮样细胞(PEC)et al。[1,2]。Zamboni在1996年进一步将其描述为一组伴有PEC的间充质肿瘤，称为PEComaet al。[1 - 3]。除了黑素小体HMB-45外，pecoma还产生黑色素A和黑色素瘤相关抗原CD63阳性染色[1-7]。pecoma包括多种肿瘤，如血管平滑肌脂肪瘤、淋巴管平滑肌瘤病、血管周围上皮样细胞腹盆腔肉瘤、镰状韧带/圆韧带透明细胞肌黑色素细胞瘤和肺透明细胞糖瘤[8-13]。2006年，潘et al。研究了8例泌尿生殖道PEComas(3例起源于肾脏)，发现16p[10]上存在TSC2位点的相关缺失。肾pecoma的谱系包括血管平滑肌脂肪瘤(AML)的变种，即经典的血管平滑肌脂肪瘤(CAML)和上皮样血管平滑肌脂肪瘤(EAML)。EAML又分为非典型上皮样血管平滑肌脂肪瘤(AAML)和恶性肾上皮样血管平滑肌脂肪瘤(MEAML)。在肾PEComa中很难确定是否存在恶性肿瘤，建议的指标是有丝分裂活性指数高，肿瘤大小和有无血管侵犯[1,8,10,14,15]。在我们的患者中，很少看到有丝分裂图，也没有淋巴血管侵犯，这表明它更可能不是恶性的。然而，多形性细胞中大量颗粒状至透明的细胞质使人怀疑其为AAML[1,15,16]。从文献中也知道，AAML肾PEComa很难与肾细胞癌(RCC)区分[1,10,14,15,16]。我们选择在手术后的第一年进行3个月一次的腹部超声检查来监测这个孩子。许多关于PEComa的文献侧重于肿瘤的组织学和鉴别，并在一定程度上有助于临床-病理预测，但几乎没有关于治疗和管理的标准方案[1,10,15,16]。从文献中发现，恶性变化发生时，肿瘤对化疗的反应趋于变化，有时可能复发，需要多次手术治疗[8,14]。

结论

已有一些儿童EAML肾PEComa的报道，这给诊断和治疗带来了挑战，但大多数病例报告为恶性型血管平滑肌脂肪瘤(MEAML)[14,17,18]。这名儿童患者的EAML肾PEComa的AAML变体让我们思考如何应对未来复发和潜在的恶性变化。对于这个男孩，我们计划终身随访并监测复发情况。我们希望有更多关于EAML肾PEComa的AAML变体的研究，以帮助更好地理解肿瘤行为或未来开发有助于监测肿瘤侵袭的肿瘤标记物;这些步骤对于被诊断出患有这种不幸疾病的儿童尤为重要。

参考文献

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