Ⅰ型神经纤维瘤病恶变伴骨破坏1例并文献复习

Malignant Transformation of Neurofibromatosis Type Ⅰ with Bone Destruction:A Case Report and Literature Review

患者女,62岁,全身散在咖啡斑62年,结节渐多48年,增大2年。皮肤科情况:全身散在多个直径1~4 cm大小咖啡色斑,泛发直径0.5~5 cm大小皮色丘疹、结节,部分带蒂,结节皮温正常,质软,无压痛;左背部可见一直径约15 cm肿块,质韧,局部皮温显著升高,无压痛,表面无糜烂、溃疡;左髋部可触及直径约20 cm皮下结节,质韧,无压痛。PET-CT扫描:左侧骶骨溶骨性破坏,伴软组织块影。皮损组织病理示:表皮大致正常;真皮及皮下组织见大量梭形细胞,分为细胞疏松区域及密集区域,梭形细胞胞浆少而淡染,核细长、波浪状,密集区域细胞呈紧密交织排列,全部区域均可见核大深染的异型细胞。免疫组织化学:Vimentin(+)、NSE(+)、p53(+)、S-100(灶性+)、EMA(-)、SMA(-)、Melan-A(-)、CK(-)、Myo(-)、Ki-67指数约15%。最终诊断神经纤维瘤病伴恶性外周神经鞘瘤伴骨破坏。患者放弃治疗出院,10个月后死亡。

A 62-year-old female presented with cafe-au-lait spots scattered all over the body for 62 years,and increased nodules for 48 years,which was enlarged for 2 years.Physical examination revealed cafe-au-lait spots scattered all over the body measuring 1~4 cm in diameter,and extensive skin-colored soft papules and nodules measuring 0.5~5 cm in diameter,some of which were pedicled.The skin temperature of the nodules was normal,and the nodules were soft with no tenderness.One huge tough nodule was on the left side of back with a diameter of about 15 cm,with significantly increased local skin temperature,no tenderness,no erosion or ulcer on the surface.There was a tough,nontender subcutaneous nodule with a diameter of about 20 cm on left hip.The positron emission tomography computed tomography(PET-CT)scan revealed osteolytic destruction of the left sacrum,with soft tissue mass shadow.The histopathologic examination showed normal epidermis,and extensive spindle cell in dermis and subdermis,with pale plasma and slender wave-shaped nucleus.There were areas with rare cells and areas with intensive cells.The cells in the dense area were closely intertwined,and heterotypic cells with deep-dyed big nucleolus could be seen in all areas.Immunohistochemistry showed that the tumor cells were stained positive for Vimentin,NSE,p53,and partly positive for S-100,and negative for EMA,SMA,Melan-A,CK and Myo,with Ki-67 positvie for 15% of the tumor cells.The diagnosis was cutaneous neurofibiromatosis with malignant peripheral nerve sheath tumor(MPNST)and bone destruction.The patient gave up treatment and died 10 months later.