Gauchotte Guillaume, Baylac François, Marie Béatrice, Vignaud Jean-Michel
Laboratoire d'anatomie et cytologie pathologiques, hôpital Central, CHU de Nancy, 29, avenue du Maréchal-de-Lattre-de-Tassigny, 54000 Nancy, France.
Ann Pathol. 2010 Apr;30(2):135-8. doi: 10.1016/j.annpat.2010.02.002. Epub 2010 Apr 2.
A 26 years old patient was operated for a tumor of cerebellar vermix, and then reoperated for a relapse at the age of 35 years, with a similar histological pattern in both cases. At pathologic examination, the tumor was composed of hypercellular sheets typical of medulloblastoma, containing also sparse large cells with eosinophilic cytoplasm and round nuclei containing voluminous nucleoli. Neuroblastic cells showed expression of neurofilament protein and synaptophysin. The large cells expressed desmin, myogenin, and neurofilament. These morphological and immunohistochemical features are characteristic of medullomyoblastoma. The patient deceased 11 years after the initial surgery. Medullomyoblastoma is a rare variant of medulloblastoma with a rhabdomyoblastic differentiation. The two tumoral populations share the same genetic alterations. The main differential diagnoses are atypical teratoid/rhabdoid tumor, immature teratoma, medulloepithelioma, primitive intracranial rhabdomyosarcoma and myoneurocytoma.
一名26岁患者因小脑蚓部肿瘤接受手术,35岁时因复发再次手术,两例组织学模式相似。病理检查时,肿瘤由髓母细胞瘤典型的高细胞片层组成,还含有稀疏的大细胞,其胞质嗜酸性,圆形核内有大量核仁。神经母细胞表达神经丝蛋白和突触素。大细胞表达结蛋白、生肌调节因子和神经丝。这些形态学和免疫组化特征是髓肌母细胞瘤的特征。患者在初次手术后11年死亡。髓肌母细胞瘤是髓母细胞瘤的一种罕见变异型,具有横纹肌母细胞分化。两种肿瘤群体具有相同的基因改变。主要鉴别诊断包括非典型畸胎样/横纹肌样肿瘤、未成熟畸胎瘤、髓上皮瘤、原发性颅内横纹肌肉瘤和肌神经细胞瘤。