儿童卵巢幼年型粒层细胞瘤中FOXL2的检测研究  

Detection of FOXL2 in Juvenile Granulosa Cell Tumor of Ovary In Children

作　　者：刘千琪 石鹏 魏晓霞[1] 李雷[1] Liu Qianqi;Shi Peng;Wei Xiaoxia(Department of Pathology,West China Second Hospital,Sichuan University/Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,Chengdu,Sichuan 610000,China)

机构地区：[1]四川大学华西第二医院病理科/出生缺陷与相关妇儿疾病教育部重点实验室,四川成都610000

出　　处：《四川医学》2022年第2期135-138,共4页Sichuan Medical Journal

摘　　要：目的探讨叉头转录因子2(FOXL2)蛋白表达与基因突变检测在儿童卵巢幼年型粒层细胞瘤(JGCT)诊断与鉴别诊断中的作用。方法收集7例儿童JGCT病例,同时选取10例卵巢成年型粒层细胞瘤(AGCT)作为对照,总结JGCT临床、病理特征、FOXL2蛋白的表达情况及FOXL2基因c.402位点突变情况。结果患儿年龄1~13岁,患病卵巢均为单侧,FIGO Ⅰ期5例,FIGO Ⅲ期2例。临床表现为腹部包块、腹痛、女性假性性早熟等。大体检查可见,卵巢均为囊实性包块,切面灰红或灰黄,质软。镜下肿瘤细胞呈实性、巢状或片状弥漫分布,部分区见大小不等的滤泡样结构。肿瘤细胞圆形、多边形,胞质较丰富,核圆形,无明显核沟,有一定异型,可见较多核分裂像。7例JGCT和10例AGCT均弥漫表达FOXL2。7例JGCT均未检测到FOXL2基因c.402C→G突变;10例AGCT均检测到FOXL2基因c.402C→G突变。结论 JGCT中免疫组织化学染色可见FOXL2蛋白弥漫表达,但是Sanger测序没有检测到c.402C→G突变,因此JGCT在与AGCT鉴别时应该选择FOXL2基因c.402C→G突变检测。Objective To investigate the role of forkhead transcription factor 2(FOXL2)protein expression and gene mutation in the diagnosis and differential diagnosis of juvenile ovarian granulosa cell tumor(JGCT)in children. Methods 7 cases of JGCT children were collected, and 10 cases of adult granulosa cell tumor(AGCT)of ovary were selected as controls. Clinical and pathological features of JGCT, expression of FOXL2 protein and mutation of c.402 locus of FOXL2 gene were summarized. ResultsChildren were 1~13 years old that the affected side was unilateral, including 5 cases of FIGO phase Ⅰ and 2 cases of FIGO phase Ⅲ. The clinical manifestations were abdominal mass, abdominal pain, female pseudoprecocious puberty and so on. Gross examination showed that ovaries were cystic and solid masses with gray red or gray yellow section and soft texture. Under the microscope, tumor cells were solid, nested or patchy diffuse distribution in some areas. There were follicular structures of different sizes. Tumor cells were round, polygonal with rich cytoplasm, round nucleus and no obvious nuclear groove. Certain atypia and more mitotic images could be seen. FOXL2 was diffusely expressed in 7 cases of JGCT and 10 cases of AGCT.The c.402 C→G mutation of FOXL2 gene was not detected in 7 cases of JGCT, but it was detected in 10 cases of AGCT. Conclusions Immunohistochemical staining showed that FOXL2 protein was diffusely expressed in JGCT, but c.402 C→G mutation was not detected by Sanger sequencing. Therefore, c.402 C→G mutation of FOXL2 gene should be selected for identification between JGCT and AGCT.

关 键 词：卵巢肿瘤 幼年型粒层细胞瘤 FOXL2蛋白 c.402C→G突变 鉴别诊断 

分 类 号：R737.31[医药卫生—肿瘤]