Clinicopathological misdiagnosis analysis of atypical teratoid/rhabdoid tumors
10.3760/cma.j.cn101070-20240617-00379
- VernacularTitle:非典型畸胎样/横纹肌样肿瘤临床病理误诊分析
- Author:
Yanfei LIU
1
;
Xiaosong YAN
;
Tingting LI
;
Junpeng HUI
;
Yuting WEN
;
Huangtao CHEN
;
Zhe WANG
;
Li YANG
Author Information
1. 西安市儿童医院病理科，西安 710003
- Publication Type:Journal Article
- Keywords:
Atypical teratoid/rhabdoid tumors;
Immunohistochemistry;
BRG1;
Misdiagnosis
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(2):120-124
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinicopathological characteristics of atypical teratoid/rhabdoid tumors (AT/RT) and the causes of pathological misdiagnosis, and summarize diagnostic strategies.Methods:A case series study was conducted.Specifically, the data of 5 misdiagnosed(misdiagnosed group) and 8 confirmed AT/RT cases(confirmed group) in the Department of Pathology of Xi′an Children′s Hospital from January 2010 to December 2018 were retrospectively analyzed.Hematoxylin-eosin and immunohistochemical staining were performed to analyze clinical features, morphology, and immune phenotypes.Rates were compared between the misdiagnosed and confirmed groups by a Fisher′s exact test.Means were compared using an independent sample t-test.Medians were compared by a Mann-Whitney U test. Results:(1)There were 4 males and 1 female in the misdiagnosed group, with a median age of 24 months.In this group, 4/5 tumors were located in the posterior cranial fossa, and 1/5 tumors were located in the spinal cord.Morphologically, rhabdoid cells were detected in 3/5 cases, and the other 2/5 cases consisted of small embryonal cells.Immunohistochemically, INI1 and BRG1 expressions were absent in 4/5 and 1/5 cases, respectively.All of them showed multiple immunephenotypes.There were 7 males and 1 female in the confirmed group, with a median age of 22 months.In the confirmed group, 4/8 tumors were located in the supratentorial region and 4/8 tumors were located in the infratentorial region.Rhabdoid cells, deficient INI1 expression and multiple immunephenotypes were observed in all 8 cases.(2)The percentage of rhabdoid cells in the misdiagnosed group was significantly lower[0.45(0, 0.46)] than that in the confirmed group[0.55(0.40, 0.85)]( Z=-2.064, P=0.039). Conclusions:The causes of misdiagnosis of AT/RT are variable sites of occurrence, diverse histomorphology, multiple phenotypes in immunohistochemistry and rare BRG1 deficiency.For high-grade rhabdoid, epithelioid, and/or embryonic small cell tumors, AT/RT should be differentiated and immunohistochemistry protocols should include INI1 and BRG1.
