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睾丸成人型颗粒细胞瘤和不完全分化性索间质肿瘤中FOXL2基因的突变分析(c.402C>G)及FOXL2蛋白的免疫组化表达

Mutational analysis (c.402C>G) of the FOXL2 gene and immunohistochemical expression of the FOXL2 protein in testicular adult type granulosa cell tumors and incompletely differentiated sex cord stromal tumors.

作者信息

Hes Ondřej, Vaněček Tomáš, Petersson Fredrik, Grossmann Petr, Hora Milan, Perez Montiel Delia M, Steiner Petr, Dvořák Miroslav, Michal Michal

机构信息

Department of Special Diagnostics, Charles University and University Hospital Plzen, Plzen, Czech Republic.

出版信息

Appl Immunohistochem Mol Morphol. 2011 Jul;19(4):347-51. doi: 10.1097/PAI.0b013e3182039ef2.

Abstract

BACKGROUND

Recently a somatic point mutation in the FOXL2 gene has been characterized in ovarian adult type of granulosa cell tumor (ATGCT) (94.6%), thecomas (12.5%), but not in juvenile type of ovarian granulosa cell tumor, other ovarian sex cord tumors and ovarian surface epithelial neoplasms. Whether this mutation is present in testicular ATGCT or incompletely differentiated sex cord stromal tumor (ISCST) is not known.

DESIGN

Four ATGCTs, 4 ISCST were immunohistochemically investigated with anti-FOXL2 and 3 ovarian ATGCTs were used as positive control.

RESULTS

Weak-to-moderate immunoreactivity was found in all tested testicular and ovarian tumors. PCR and direct sequencing were used for detection of c.402C>G of the FOXL2 gene. No mutation was found in any of the testicular ATGCTs or ISCSTs whereas all ovarian tumors showed the c.402C>G point mutation of the FOXL2 gene.

CONCLUSIONS

On the basis of this small series of these rare testicular neoplasms, it seems that the c.402C>G mutation of the FOXL2 gene frequently found in adult type of ovarian GCT does not play any significant role in the development of ATGCT and ISCST.

摘要

背景

最近在卵巢成人型颗粒细胞瘤(ATGCT)(94.6%)、卵泡膜细胞瘤(12.5%)中发现了FOXL2基因的体细胞点突变,但在卵巢幼年型颗粒细胞瘤、其他卵巢性索肿瘤和卵巢表面上皮性肿瘤中未发现。目前尚不清楚该突变是否存在于睾丸ATGCT或不完全分化性索间质肿瘤(ISCST)中。

设计

对4例ATGCT和4例ISCST采用抗FOXL2抗体进行免疫组织化学研究,并以3例卵巢ATGCT作为阳性对照。

结果

在所有检测的睾丸和卵巢肿瘤中均发现弱至中度免疫反应性。采用PCR和直接测序法检测FOXL2基因的c.402C>G突变。在任何睾丸ATGCT或ISCST中均未发现突变,而所有卵巢肿瘤均显示FOXL2基因的c.402C>G点突变。

结论

基于这一小系列罕见的睾丸肿瘤,在成人型卵巢颗粒细胞瘤中常见的FOXL2基因c.402C>G突变似乎在ATGCT和ISCST的发生发展中不起任何重要作用。

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