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具有黑素细胞和肌源性分化的WNT激活型髓母细胞瘤:1例罕见病例报告。

WNT-activated medulloblastoma with melanotic and myogenic differentiation: Report of a rare case.

作者信息

Rajeshwari Madhu, Kakkar Aanchal, Nalwa Aasma, Suri Vaishali, Sarkar Chitra, Satyarthee Guru Dutta, Garg Ajay, Sharma Mehar Chand

机构信息

Departments of Pathology, All India Institute of Medical Sciences, New Delhi, India.

Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Neuropathology. 2016 Aug;36(4):372-5. doi: 10.1111/neup.12281. Epub 2016 Feb 12.

Abstract

Medulloblastoma (MB) with melanotic and myogenic differentiation, previously known as melanotic medullomyoblastoma, is an extremely rare histological variant of MB showing melanocytic as well as skeletal muscle differentiation. Only 10 cases of this rare tumor have been reported in the literature to date. We report this case of a 2-year-old male child who presented with a midline cerebellar mass, which on histopathological examination showed classic MB intermixed with cells containing melanin pigment, along with rhabdomyoblasts, spindle cells and occasional strap cells, which corresponded to WNT subgroup on molecular classification. The cell of origin of this MB variant is likely to be neural crest-derived stem cells which are capable of multilineage differentiation. Significant findings from previous reports and important differential diagnoses are discussed. Documentation of these tumors is important to characterize the clinical behaviour and to identify distinct genetic features, if any.

摘要

具有黑素细胞和肌源性分化的髓母细胞瘤(MB),以前称为黑素性髓肌母细胞瘤,是MB一种极其罕见的组织学变体,表现出黑素细胞以及骨骼肌分化。迄今为止,文献中仅报道了10例这种罕见肿瘤。我们报告了一名2岁男童的病例,该患儿出现小脑中线肿块,组织病理学检查显示为经典的MB,伴有含黑色素的细胞,以及横纹肌母细胞、梭形细胞和偶尔的束状细胞,分子分类上对应WNT亚组。这种MB变体的起源细胞可能是能够进行多谱系分化的神经嵴衍生干细胞。讨论了既往报告的重要发现和重要鉴别诊断。记录这些肿瘤对于表征临床行为和识别独特的遗传特征(如果有的话)很重要。

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