Gilbert Andrea R, Zaky Wafik, Gokden Murat, Fuller Christine E, Ocal Eylem, Leeds Norman E, Fuller Gregory N
Department of Pathology of Laboratory Medicine, Houston Methodist Hospital, Houston, TX, USA.
Pediatr Neurosurg. 2018;53(1):59-63. doi: 10.1159/000481513. Epub 2017 Nov 4.
Diffuse midline glioma, H3-K27M mutant (DMG-K27M) is a newly described, molecularly distinct infiltrative glioma that almost exclusively arises in midline CNS structures, including the brain stem, especially the pons, as well as the thalamus and spinal cord with rare examples seen in the cerebellum, third ventricle, and hypothalamus. To our knowledge, only 1 case of a molecularly confirmed DMG-K27M arising in the pineal region has been previously reported. We present the second occurrence of a tissue-confirmed DMG-K27M of the pineal region, which, to our knowledge, is the first case reported in a child and the first case with documented preoperative MRI. This case, in addition to a prior report described in an adult, defines the lower end of a broad age range of DMG-K27M onset (12-65 years) and establishes the pineal gland as a bona fide site of origin for this newly codified midline glioma.
弥漫性中线胶质瘤,H3-K27M突变型(DMG-K27M)是一种新描述的、分子特征独特的浸润性胶质瘤,几乎仅发生于中枢神经系统中线结构,包括脑干,尤其是脑桥,以及丘脑和脊髓,在小脑、第三脑室和下丘脑有罕见病例。据我们所知,之前仅报道过1例分子确诊的起源于松果体区的DMG-K27M。我们报告了第二例组织确诊的松果体区DMG-K27M,据我们所知,这是首例报道的儿童病例,也是首例有术前MRI记录的病例。该病例,连同之前报道的1例成人病例,确定了DMG-K27M发病年龄范围较广(12 - 65岁)的下限,并确立了松果体为这种新分类的中线胶质瘤的一个真正起源部位。