Histopathology and molecular genetics of multiple cysts and microcystic (serous) adenomas of the pancreas in von Hippel-Lindau patients
Histopathology and molecular genetics of multiple cysts and microcystic (serous) adenomas of the pancreas in von Hippel-Lindau patients
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DOI：
10.1016/s0002-9440(10)64799-2
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发表时间：
2000-11-01
影响因子：
6
通讯作者：
Lubensky, IA
中科院分区：
文献类型：
--
作者：
Mohr, VH;Vortmeyer, AO;Lubensky, IA
胰腺微囊性腺瘤和囊肿是偶发或作为VHL病的一部分发生的，VHL患者胰腺囊性疾病的病理尚未很好地表征。此外，目前尚不清楚VHL基因的改变是否导致了整个胰腺浆液性囊性病变的发展。我们对9例已知种系突变的VHL患者的21个囊肿和98个微囊性腺瘤进行了组织病理学分析。此外，我们还研究了3例信息丰富的患者27例胰腺囊性病变的pcr扩增DNA，以寻找具有跨VHL多态性标记的等位基因缺失。基因位点。所有患者胰腺病变均为多发病变：21例良性浆液囊肿，63例显微微囊性腺瘤（大小0.5 cm）。每例患者平均病变数为：良性囊肿2.1个（范围0-8），显微微囊性腺瘤7.7个（1-37），宏观微囊性腺瘤3个（0-21）。所有病变组织学相似，含有明显的纤维间质，透明和/或嗜两性，富含糖原的上皮细胞，内皮细胞和平滑肌细胞。在所有类型的胰腺囊性病变中均检测到VHL缺失。多灶性胰腺囊性病变谱中VHL基因等位基因缺失的存在，为其肿瘤性和与VHL疾病的整体关联提供了直接的分子证据。组织病理学和分子数据建立了VHL疾病胰腺囊性瘤发展的浆液性囊肿-微囊性腺瘤连续体。
Microcystic adenoma and cysts of the pancreas occur sporadically or as a part of von Hippel-Lindau (VHL) disease, The pathology of pancreatic cystic disease in VHL patients has not been well characterized. Furthermore, it is presently unknown whether the alteration of the VHL gene is responsible for the development of the entire spectrum of pancreatic serous cystic lesions. We performed a histopathological analysis of 21 cysts and 98 microcystic adenomas in nine VHL patients with a known germline mutation. In addition, PCR-amplified DNA from 27 pancreatic cystic lesions in three informative patients was studied for allelic deletions with polymorphic markers spanning the VHL. gene locus. In all patients, pancreatic lesions were multiple: 21 benign serous cysts, 63 microscopic microcystic adenomas (size 0.5 cm). The average number of lesions per patient was 2.1 benign cysts (range, 0-8), 7.7 (1-37) microscopic microcystic adenomas, and 3 (0-21) macroscopic microcystic adenomas. All lesions showed similar histology and contained prominent fibrous stroma, clear and/or amphophilic, glycogen-rich epithelial cells, endothelial and smooth muscle cells. VHL, deletions were detected In all types of pancreatic cystic lesions. The presence of VHL gene allelic deletions in the spectrum of multifocal pancreatic cystic lesions provides direct molecular evidence of their neoplastic nature and integral association with VHL disease. The histopathological and molecular data establish a serous cyst-microcystic adenoma continuum in the development of pancreatic cystic neoplasia in VHL disease.