Suppr超能文献

具有多谱系分化(包括肌源性和黑色素性成分)的髓母细胞瘤:一例伴有分子数据的病例报告

Medulloblastoma with multi-lineage differentiation including myogenic and melanotic elements: a case report with molecular data.

作者信息

Stefanits Harald, Ebetsberger-Dachs Georg, Weis Serge, Haberler Christine

出版信息

Clin Neuropathol. 2014 Mar-Apr;33(2):122-7. doi: 10.5414/NP300675.

Abstract

We present an unusual medulloblastoma in a 3.9-year-old boy who had a 2-week history of nausea and vertigo. MRI revealed a 5×5.5×5 cm sized tumor located in the fourth ventricle and spinal leptomeningeal dissemination. The patient was treated according to the MET-HIT 2000-BIS4 protocol but showed tumor progression after 6 months and died 9 months postoperatively. Histopathologically and immunohistochemically, the tumor showed PNET-like areas with focal anaplasia, admixed rhabdomyoblastic and pigmented elements, cartilage and bone formation, as well as areas with neurocytic and glial differentiation. Neither CTNNB1 mutation nor MYCC/MYCN amplification was detected. The combination of rhabdomyoblastic and melanotic elements in medulloblastoma is exceptionally rare. Although the histopathological features suggested a teratoid tumor, the endodermal cell lineage required for this diagnosis was not present. An atypical teratoid-rhabdoid tumor was ruled out due to the presence of the INI1-protein. Regarding the molecular profile with 1q and 17q chromosomal gains and loss of chromosome 8, this tumor could be compatible with a molecular medulloblastoma Group 3 or 4. Yet, it cannot be definitively ruled out that medulloblastomas with multi-lineage differentiation represent a distinct subgroup of medulloblastoma, and it remains to be clarified whether these tumors are associated with a distinct clinical behavior.

摘要

我们报告了一例罕见的髓母细胞瘤,患儿为3.9岁男孩,有2周的恶心和眩晕病史。MRI显示一个大小为5×5.5×5 cm的肿瘤位于第四脑室,并伴有脊髓软脑膜播散。该患者按照MET-HIT 2000-BIS4方案进行治疗,但6个月后出现肿瘤进展,术后9个月死亡。组织病理学和免疫组织化学检查显示,肿瘤呈现PNET样区域伴局灶间变,混有横纹肌母细胞和色素沉着成分、软骨和骨形成,以及具有神经细胞和胶质细胞分化的区域。未检测到CTNNB1突变和MYCC/MYCN扩增。髓母细胞瘤中横纹肌母细胞和黑色素成分的组合极为罕见。尽管组织病理学特征提示为畸胎样肿瘤,但该诊断所需的内胚层细胞谱系并不存在。由于存在INI1蛋白,排除了非典型畸胎样横纹肌样肿瘤。关于具有1q和17q染色体增加以及8号染色体缺失的分子特征,该肿瘤可能符合分子髓母细胞瘤3组或4组。然而,不能完全排除具有多谱系分化的髓母细胞瘤代表髓母细胞瘤的一个独特亚组,这些肿瘤是否与独特的临床行为相关仍有待阐明。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验