颅内非典型畸胎瘤样/横纹肌样瘤病理临床及影像学表现

Intracranial atypical teratoid/rhabdoid tumor:Pathological,clinical and imaging features

颅内非典型畸胎瘤样/横纹肌样瘤多见于婴幼儿,呈侵袭性生长,易在中枢神经系统内播散。肿瘤组织中含有横纹肌样细胞、原始神经外胚层、肿瘤性间质成分和上皮组织。免疫组化有助于鉴别原始神经外胚层肿瘤/髓母细胞瘤。细胞遗传学表现为22对染色体呈单体性或22q11.2缺失。临床多采用以手术切除为主的强化性治疗。因继发性囊变坏死或出血,影像学呈多样性表现。

Atypical teratoid/rhabdoid tumor of the central nervous system has aggressive growth with high potential CSF dissemination and frequently affects very young children.The tumor contains rhabdoid cells and primitive neuroectodermal,malignant mesenchymal and epithelial elements.Immunohistochemistry is helpful in differentiating atypical teratoid/rhabdoid tumor from primitive neuroectodermal tumor/medulloblastoma.Atypical teratoid/rhabdoid tumor is cytogenetically characterized by monosomy 22 or deletion of chromosome band 22q11.2.Intensified therapy combined with surgical resection has been suggested for its treatment.Due to the secondary cystic/necrotic changes and hemorrhage,the imaging features of the tumor are variable.