Carcinomalike monotypic epithelioid angiomyolipoma in patients without evidence of tuberous sclerosis - A clinicopathologic and genetic study
Carcinomalike monotypic epithelioid angiomyolipoma in patients without evidence of tuberous sclerosis - A clinicopathologic and genetic study
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DOI：
10.1097/00000478-199806000-00003
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发表时间：
1998-06-01
影响因子：
5.6
通讯作者：
Mariuzzi, GM
中科院分区：
文献类型：
--
作者：
Martignoni, G;Pea, M;Mariuzzi, GM
我们报告一个不寻常的肾肿瘤的临床病理、免疫组织化学、超微结构和遗传特征，该肿瘤由大的、非典型的、密集堆积的、透明的/嗜酸性上皮样细胞组成。3例患者，2男1女（年龄分别为31岁、36岁和60岁）腹痛。形态学上，所有病例均表现为侵袭性特征（肿大、非典型细胞、肉瘤样特征、坏死，并有一例肾静脉浸润）。尽管这些肿瘤在形态学上与高级别肉瘤样肾细胞癌有明显的相似之处，但它们的表型（HMB45（+）、CD68（+/-）、肌动蛋白（+/-）、波形蛋白和角蛋白阴性）与上皮肿瘤的表型相反，与血管平滑肌脂肪瘤的表型相似。超微结构分析显示，肿瘤细胞中存在糖原、线粒体和明显的电子致密膜结合颗粒，没有黑素体或前黑素体。利用石蜡切片的聚合酶链反应进行的遗传研究显示，在一个病例中，16p上含有tsc2的区域的杂合性缺失，在两个病例中，3p的杂合性缺失，表明这些肿瘤中发生了多重遗传改变。随访6年后1例局部复发，1年后因心肺衰竭死亡。另外两名患者分别在26个月和10个月后康复。所有3例患者均评估结节性硬化症的体征，结果均为阴性。我们认为这些肿瘤应该被认为是血管平滑肌脂肪瘤变体的近亲，纯粹由血管周围上皮样细胞组成。需要更多的病例和更长的随访时间来充分评估其预后意义。
We report the clinicopathologic, immunohistochemical, ultrastructural, and genetic features of an unusual renal tumor composed of large, atypical, densely packed, clear/eosinophilic epithelioid cells. Three patients, two men and one woman (ages 31, 36, and 60 years of age, respectively), had abdominal pain. Morphologically, all cases showed aggressive features (largeness, atypical cells, sarcomatoid features, necrosis, and, in one case, invasion of the renal vein). Despite the marked morphologic resemblance of these tumors to high-grade sarcomatoid renal cell carcinoma, their phenotype (HMB45(+), CD68(+/-), actin(+/-), and vimentin and keratin negative) is in contrast to that observed in epithelial tumors and parallels the phenotypic profile of angiomyolipoma. Ultrastructural analysis showed the presence of glycogen, mitochondria, and prominent electron-dense, membrane-bound granules in the neoplastic cells, and the absence of melanosomes or premelanosomes. Genetic study, performed using polymerase chain reaction from paraffin sections, showed a loss of heterozygosity at the TSC2-containing region on 16p in one case, and on 3p in two cases, showing that multiple genetic alterations are taking place in these tumors. Follow-up has shown local recurrence in one case after 6 years, and the patient died I year later of cardiorespiratory failure. The other two patients are well after 26 and 10 months. All three patients were evaluated for signs of tuberous sclerosis, and findings were negative. We suggest that these tumors should be considered close relatives of the angiomyolipoma variants, composed purely of perivascular epithelioid cells. More cases and longer follow-up durations are needed to fully evaluate its prognostic implication.