神经纤维瘤病Ⅰ型局部恶变1例  

A Case of Neurofibromatosis Type Ⅰ with Focal Malignancy

作　　者：柏鑫 陈海月 崔京淑 刘兰 BAI Xin;CHEN Haiyue;CUI Jingshu;LIU Lan(Department of Pathology,Affiliated Hospital of Yanbian University,Yanji 133000,China)

机构地区：[1]延边大学附属医院(延边医院)病理科,吉林延吉133000

出　　处：《中国皮肤性病学杂志》2020年第12期1426-1428,共3页The Chinese Journal of Dermatovenereology

摘　　要：患者男,16岁,全身散在皮肤咖啡斑16年,结节渐多5年,增大2年。皮肤科情况:全身散在多个咖啡色斑,直径0.5~2 cm,泛发丘疹、结节直径0.5~4 cm;左小腿部见到直径约10 cm肿块,界限清楚,质韧,无压痛,表面无糜烂、溃疡。MRI平扫:双侧小腿深部、浅表、多发结节和肿块,串珠状,与神经关系紧密,神经干增粗;增强扫描示结节呈T1W低信号、压脂T2W高信号,信号均匀、界限清晰,不均匀强化。组织病理示:肿瘤细胞为弥漫增生的梭形细胞,分为疏松区域及密集区域,疏松区细胞胞浆少而淡染,核细长、波浪状,密集区细胞紧密交织排列,可见核大深染的异型细胞,较多病理性核分裂。免疫组织化学示:S-100(+)、Vimentin(+)、SMA(-)、Ki-67(密集区50%+)。最终诊断:(左小腿)神经纤维瘤病Ⅰ型,局灶恶变。A 16-year-old male presented with cafe-au-lait spots all over the body for 16 years.The nodules were gradually increased for 5 years,which was enlarged for 2 years.Physical examination revealed cafe-au-lait spots scattered all over the body measuring 0.5~2 cm in diameter,and extensive skin-colored soft papules and nodules measuring 0.5~4 cm.A huge tough and well-defined nodule was on the left shank with a diameter of about 10 cm,with no tenderness,erosion or ulcer on the surface.Nuclear magnetic resonance imaging(MRI)plain scan showed that multiple nodules and masses were beaded and closely related to the nerves,and the nerve trunks were thickened in the deep and superficial bilateral shanks.On contrast-enhanced scan,the nodules showed low signal of T1W and high signal of T2W,with uniform signal,clear boundary and uneven enhancement.Histopathology showed that tumor cells were diffused proliferation of spindle cell,and divided into dense and loose areas.In the loose area,the cytoplasm was less and light stained,and the nucleus was slender and wavy.The cells in the dense area were closely intertwined,and heterotypic cells with deep dyed big nucleolus and pathological karyokinesis could be seen.Immunohistochemistry showed that the tumor cells were stained positive for S-100 and Vimentin,and negative for SMA,with Ki-67 positive for 50%of the tumor cells in the dense area.The diagnosis was neurofibromatosis typeⅠ,with focal malignancy.

关 键 词：神经纤维瘤病 Ⅰ型 局灶恶变 常染色体显性遗传性疾病 

分 类 号：R739.5[医药卫生—肿瘤]