Dolzhansky O V, Paltseva E M, Bukaeva A A, Zaklyazminskaya E V, Spivak I A, Fedorov D N
Academician B.V. Petrovsky Russian Research Center of Surgery, Moscow, Russia.
OOO 'Hemotest Laboratory', Moscow, Russia.
Arkh Patol. 2017;79(4):33-39. doi: 10.17116/patol201779433-39.
The paper describes a case of eosinophilic granuloma of the parietal bone in a 32-year-old man. Histological examination revealed a large number of bean-shaped Langerhans cell histiocytes with lobed nuclei and nuclear grooves. The histiocytes alternated with the foci of obvious eosinophilic infiltration and with eosinophilic microabscesses. There were osteoclast-like multinucleated giant cells, bone resorption, and numerous bone rods covered with osteoblast chains. The histiocytes expressed CD1α, langerin, CD68, S100, and p53 (in 90.0% of the tumor cells). The Ki-67 proliferation index was 18.0%. A molecular genetic study identified BRAFV600E mutation (nucleotide substitution s.1799 T>A (p.V600E) in the heterozygous state). Clinical and morphological data and the results of molecular genetic studies led to the conclusion that there was eosinophilic granuloma of the right parietal bone (the unifocal form of Langerhans cell histiocytosis (LCH), type I, group A1, with the monoossal nature of lesion and with BRAFV600E mutation). In adults, this disease is extremely rare (2-5 cases of LCH per million people, bone loss in the fourth decade of life in 2.5% of the patients).
本文描述了一名32岁男性顶骨嗜酸性肉芽肿的病例。组织学检查显示大量豆形朗格汉斯细胞组织细胞，核呈分叶状且有核沟。组织细胞与明显嗜酸性浸润灶及嗜酸性微脓肿交替出现。有破骨细胞样多核巨细胞、骨质吸收，以及大量覆盖有成骨细胞链的骨小梁。组织细胞表达CD1α、朗格蛋白、CD68、S100和p53（在90.0%的肿瘤细胞中）。Ki-67增殖指数为18.0%。分子遗传学研究鉴定出BRAFV600E突变（杂合状态下核苷酸替换s.1799 T>A (p.V600E)）。临床和形态学数据以及分子遗传学研究结果得出结论，存在右顶骨嗜酸性肉芽肿（朗格汉斯细胞组织细胞增多症（LCH）的单灶型，I型，A1组，病变为单骨性质且伴有BRAFV600E突变）。在成年人中，这种疾病极为罕见（每百万人中有2 - 5例LCH，2.5%的患者在生命的第四个十年出现骨质流失）。
