Clinicopathological characteristics and prognosis of diffuse midline gliomas with histone H3K27M mutation: an analysis of 30 cases
10.3760/cma.j.issn.0529-5807.2019.03.005
- VernacularTitle: H3K27M突变型弥漫性中线胶质瘤30例临床病理学特征和预后分析
- Author:
Hainan LI
1
;
Changguo SHAN
2
;
Chongzhu FAN
1
;
Lina CHENG
3
;
Shigang WU
4
;
Minting LIU
5
;
Guangyu JIANG
5
;
Zhi LI
6
Author Information
1. Department of Pathology, Guangdong Sanjiu Brain Hospital, Guangzhou 510510, China
2. Department of Oncology, Guangdong Sanjiu Brain Hospital, Guangzhou 510510, China
3. Department of Radiology, Guangdong Sanjiu Brain Hospital, Guangzhou 510510, China
4. Department of Pathology, Qingyuan People′s Hospital, Guangdong Province, Qingyuan 511518, China
5. Department of Pathology, the First Affiliated Hospital of Jinan University (Guangzhou Overseas Chinese Hospital), Guangzhou 510630, China
6. Department of Pathology, Guangdong Provincial People′s Hospital, Guangzhou 510080, China
- Publication Type:Journal Article
- Keywords:
Glioma;
DNA mutational analysis;
Pathology, surgical;
Prognosis
- From:
Chinese Journal of Pathology
2019;48(3):192-198
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinicopathological characteristics and prognosis of diffuse midline glioma (DMG) with H3K27M mutation.
Methods:Thirty cases of DMG were collected in Guangdong Sanjiu Brain Hospital from October 2016 to May 2018. The patients′ clinicopathological data including age, tumor site and histological grade, treatment and follow-up data were collected and analyzed.
Results:There were 21 males and 9 females, with a mean age of 26 years (range 5-53 years). Fourteen tumors were located in thalamus, 12 in brainstem (one involved both thalamus and brainstem), and one each in hypothalamus, fourth ventricle, and sellar region, respectively. Two cases presented as diffuse intracranial lesions. Three cases (10.0%) were of WHO grade Ⅰ, 10 cases (33.3%) were grade Ⅱ, eight cases (26.7%) were grade Ⅲ, and nine cases (30.0%) were grade Ⅳ.All patients with gradeⅠ tumors were older than 20 years. Histologically, all were pilocytic astrocytoma-like. Immunohistochemical staining demonstrated that all tumors were IDH1 negative. Twenty-eight tumors showed diffuse expression of H3K27M, and two showed focal expression. Twenty-one tumors(100.0%, 21/21) showed absent expression of H3K27me3. Sixteen tumors (57.1%, 16/28) showed strongly positive expression of p53, and ATRX was negative in eight tumors (38.1%, 8/21). The Ki-67 proliferation index ranged from 5% to 40%. Eight cases (including two cases of H3K27M expression of individual cells) showed K27M mutation in H3F3A gene. Intracranial and spinal cord dissemination occurred in six cases (20.0%, 6/30). Median progression-free survival (PFS) was 9.5 months and median overall survival (OS) was 34 months. Mean PFS was 11.2 months and mean OS was 24.3 months. Compared with adults (>20 years old), children/adolescents (no more than 20 years old) had significantly shorter median OS (8 months vs. 34 months, P=0.013). There was no significant difference in PFS and OS between DMGs located in the brain stem/thalamus and other sites within midline (P>0.05). There was no significant difference in PFS and OS between WHO grade ⅠDMGs and WHO grade Ⅱ-Ⅳ DMGs (P>0.05).
Conclusions:DMGs occur more commonly in children and adolescents with male predominance. DMGs present with WHO Ⅰ-Ⅳ tumors morphologically, and pilocytic astrocytoma-like lesions with WHO Ⅰ are more common in adults. Expression of H3K27M but not H3K27me3 is helpful for diagnosis of DMG. The prognosis of children/adolescents is significantly worse than that of adults, whereas histological grade and tumor location do not affect prognosis.
