Kuorilehto Tommi, Kinnunen Pentti, Nissinen Marja, Alanne Maria, Leskelä Hannu-Ville, Lehenkari Petri, Peltonen Juha
Department of Anatomy, Institute of Biomedicine, University of Turku, Kiinanmyllynkatu, Turku, Finland.
Pathol Res Pract. 2006;202(9):687-90. doi: 10.1016/j.prp.2006.03.006. Epub 2006 Jun 2.
Neurofibromatosis type 1 (NF1) is a common dominantly inherited disease. More than half of NF1 patients suffer from skeletal manifestations, of which congenital pseudarthrosis of tibia (CPT) is one of the most incapacitating lesions. Two NF1 patients with CPT were operated, and the resected tissues were analyzed using immunohistochemistry and/or in situ hybridization for NF1 protein and mRNA, p-p44/42 MAPK, and S100 protein. Both patients displayed thick-walled arteries and veins with a small lumen within the fibrotic tissue in the vicinity of pseudarthrosis. Endothelial cells were highly positive for p-p44/42 MAPK. A subpopulation of cells surrounding the blood vessels was S100 protein-positive. However, the exact identity of the S100-positive cells remains to be elucidated. Neurofibromin mRNA and protein labeling was detected in both cell types. In conclusion, decreased NF1 function as a RAS-GAP in the endothelium may contribute to vascular thickening in CPT.
1型神经纤维瘤病（NF1）是一种常见的常染色体显性遗传病。超过半数的NF1患者存在骨骼表现，其中胫骨先天性假关节（CPT）是最致残的病变之一。对两名患有CPT的NF1患者进行了手术，并对切除组织进行免疫组织化学和/或原位杂交分析，检测NF1蛋白和mRNA、磷酸化p44/42丝裂原活化蛋白激酶（p-p44/42 MAPK）以及S100蛋白。两名患者假关节附近的纤维化组织内均可见管腔小的厚壁动静脉。内皮细胞p-p44/42 MAPK呈强阳性。血管周围的一部分细胞S100蛋白呈阳性。然而，S100阳性细胞的确切身份仍有待阐明。在这两种细胞类型中均检测到神经纤维瘤蛋白mRNA和蛋白标记。总之，内皮细胞中NF1作为RAS-GAP的功能降低可能导致CPT中的血管增厚。
