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C134W(402C>G)FOXL2 突变在卵巢雌雄同体性母细胞瘤中缺失:对一种不寻常肿瘤发生的深入了解。

The C134W (402 C>G) FOXL2 mutation is absent in ovarian gynandroblastoma: insights into the genesis of an unusual tumour.

机构信息

Department of Pathology, Ninewells Hospital and Medical School, Dundee, Scotland, UK.

出版信息

Histopathology. 2012 Apr;60(5):838-42. doi: 10.1111/j.1365-2559.2011.04148.x. Epub 2012 Feb 1.

DOI:10.1111/j.1365-2559.2011.04148.x
PMID:22296244
Abstract

AIMS

Ovarian gynandroblastomas are rare tumours that, by definition, comprise a combination of components resembling both female, typically granulosa cell tumour (GCT), and male, typically Sertoli or Sertoli/Leydig cell tumour (ST/SLT), sex cord/stromal differentiation. The histogenesis of these tumours is unknown and, in view of the very strong association between the C134W (402 C>G) FOXL2 mutation and adult-type GCT, we analysed a series of gynandroblastomas for this mutation.

METHODS AND RESULTS

Both components of each lesion were isolated by laser capture microdissection and the C134W (402 C>G) FOXL2 mutation was analysed by polymerase chain reaction sequencing. No mutation was identified in either the GCT or ST/SLT component of six cases, three of which contained adult-type GCT.

CONCLUSIONS

This suggests that, despite their similar morphological appearances, the GCT-like component of gynandroblastoma has a different molecular basis from conventional adult-type GCT. This finding underscores a more general principle that morphological similarity does not necessarily indicate molecular identity.

摘要

目的

卵巢雌雄同体性生殖细胞瘤是一种罕见的肿瘤,根据定义,它由同时类似于女性(典型为颗粒细胞瘤[GCT])和男性(典型为支持细胞或支持细胞/间质细胞瘤[ST/SLT])性索/间质分化的成分组成。这些肿瘤的组织发生尚不清楚,鉴于 C134W(402 C>G)FOXL2 突变与成人型 GCT 之间存在很强的相关性,我们分析了一系列雌雄同体性生殖细胞瘤是否存在该突变。

方法和结果

通过激光捕获显微切割分离每个病变的两个成分,并通过聚合酶链反应测序分析 C134W(402 C>G)FOXL2 突变。在 6 例中,有 3 例包含成人型 GCT,均未在 GCT 或 ST/SLT 成分中发现突变。

结论

这表明,尽管外观相似,但雌雄同体性生殖细胞瘤的 GCT 样成分与传统的成人型 GCT 具有不同的分子基础。这一发现强调了一个更普遍的原则,即形态相似不一定表示分子同一性。

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引用本文的文献

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Cancers (Basel). 2023 Dec 15;15(24):5864. doi: 10.3390/cancers15245864.
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[Sex cord-stromal tumors of the ovary : Current aspects with a focus on granulosa cell tumors, Sertoli-Leydig cell tumors, and gynandroblastomas].[卵巢性索间质肿瘤:当前概况,重点关注颗粒细胞瘤、支持-间质细胞瘤和两性母细胞瘤]
Pathologe. 2019 Feb;40(1):61-72. doi: 10.1007/s00292-018-0562-3.
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Ovarian Gynandroblastoma with a Juvenile Granulosa Cell Tumor Component in a Postmenopausal Woman: A Case Report and Literature Review.
绝经后女性卵巢两性母细胞瘤合并幼年型颗粒细胞瘤成分:一例报告及文献复习
J Pathol Transl Med. 2018 Sep;52(5):344-348. doi: 10.4132/jptm.2018.06.28. Epub 2018 Jul 17.