良性脊索细胞肿瘤：13 例的临床病理和分子特征分析。

Benign notochordal cell tumour: clinicopathology and molecular profiling of 13 cases.

机构信息

Department of Neuropathology, Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases (NCRC-ND), Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing Key Laboratory of Brain Tumor, Beijing, China.

出版信息

J Clin Pathol. 2019 Jan;72(1):66-74. doi: 10.1136/jclinpath-2018-205441. Epub 2018 Oct 24.

DOI:10.1136/jclinpath-2018-205441

PMID:30355586

Abstract

AIMS

To study the clinicopathological and molecular features of benign notochordal cell tumours (BNCTs) and their differential diagnosis from chordoma.

METHODS

13 cases of BNCT were investigated. The genome-wide copy number imbalances were performed using Oncoscan CNV array in three cases and fluorescence in situ hybridisation (FISH) detection of epidermal growth factor receptor (EGFR)/chromosome 7 enumeration probe (CEP7), LSI1p36/1q21, LSI19p13/19q13, CEP3/CEP12 and Telvysion 6 P was performed in 13 cases.

RESULTS

All 13 BNCTs were symptomatic and eight cases showed a close relationship with the bones of the skull base. The important histological character for differential diagnosis with chordoma was the absence of extracellular matrix and eosinophil cells and the presence of vacuoles in most tumour cells. Immunohistochemical staining of AE1/AE3, vimentin, epithelial membrane antigen, S-100 and brachyury (100% each) were positive in BNCTs. Gain of chromosome 7 occurred in 10 cases (76.9%), gain of 1p in four (30.8%), gain of 1q in five (38.5%), gain of 19p and 19q in five (38.5%), gain of chromosome 12 in 11 cases (84.6%), gain of 6p in eight (61.5%) and gain of chromosome 3 in four cases (30.8%).

CONCLUSIONS

In contrast to chordoma, chromosome gain or normal copy number was more common while chromosome loss was infrequent in BNCTs. This may be a differential diagnosis clue for chordoma and may be an important characteristic in the progression of notochordal cell tumours.

摘要

目的

研究良性脊索瘤细胞肿瘤（BNCT）的临床病理和分子特征及其与脊索瘤的鉴别诊断。

方法

研究了 13 例 BNCT。在三例中使用 Oncoscan CNV 阵列进行全基因组拷贝数失衡分析，在 13 例中进行荧光原位杂交（FISH）检测表皮生长因子受体（EGFR）/7 号染色体计数探针（CEP7）、LSI1p36/1q21、LSI19p13/19q13、CEP3/CEP12 和 Telvysion 6 P。

结果

所有 13 例 BNCT 均有症状，8 例与颅底骨有密切关系。与脊索瘤鉴别诊断的重要组织学特征是缺乏细胞外基质和嗜酸性粒细胞，大多数肿瘤细胞存在空泡。AE1/AE3、波形蛋白、上皮膜抗原、S-100 和 brachyury（各 100%）的免疫组化染色在 BNCT 中均为阳性。10 例（76.9%）发生 7 号染色体获得，4 例（30.8%）发生 1p 获得，5 例（38.5%）发生 1q 获得，5 例（38.5%）发生 19p 和 19q 获得，11 例（84.6%）发生 12 号染色体获得，8 例（61.5%）发生 6p 获得，4 例（30.8%）发生 3 号染色体获得。