胎盘部位滋养细胞肿瘤和上皮样滋养细胞肿瘤的分子基因分型；女性为主。

Molecular genotyping of placental site and epithelioid trophoblastic tumours; female predominance.

机构信息

Trophoblastic Tumour Screening & Treatment Centre, Charing Cross Campus, Imperial College London, London W6 8RF, UK.

Department of Paediatric Laboratory Medicine, UCL Institute of Child Health, London WC1N 3JH, UK.

出版信息

Gynecol Oncol. 2016 Sep;142(3):501-7. doi: 10.1016/j.ygyno.2016.05.033. Epub 2016 Jul 4.

DOI:10.1016/j.ygyno.2016.05.033

PMID:27246306

Abstract

OBJECTIVE

To investigate a large series of placental site trophoblastic tumours (PSTT) and epithelioid trophoblastic tumours (ETT) and determine the relationship between their development and the type and sex of both the immediately antecedent and causative pregnancies.

METHODS

The antecedent pregnancy was determined from patient records in 92 cases with a confirmed diagnosis of PSTT, ETT or mixed PSTT/ETT. In a subset of 57 cases, type and sex of the causative pregnancy was established by molecular genotyping of tumour tissue microdissected from formalin-fixed, paraffin-embedded blocks.

RESULTS

The antecedent pregnancy was a normal live birth in 59 (64%) cases, a hydatidiform mole in 19 (21%) and other pregnancy loss in 14 (15%). Where the sex was recorded, 36 (78%) of 46 antecedent normal pregnancies were female, a significantly greater proportion than expected (p<0.0001). Genotyping of 57 cases found 15 (26%) to derive from hydatidiform moles while 42 (74%) arose in non-molar pregnancies. Where the causative pregnancy was non-molar, 38 (91%) tumours arose in female conceptions, significantly greater than expected (p<0.0001). Analysis of short tandem repeats on the X chromosome in three tumours with an XY chromosomal constitution confirmed that the X chromosome was maternal in origin.

CONCLUSIONS

PSTT and ETT predominantly arise in female pregnancies but can develop in male pregnancies. A male derived X chromosome is not required for the development of these tumours. While these tumours are predominantly female it is not because most originate in complete hydatidiform moles.

摘要

目的

研究大量胎盘部位滋养细胞肿瘤（PSTT）和上皮样滋养细胞肿瘤（ETT），并确定其发生与前次妊娠及本次妊娠的类型和性别之间的关系。

方法

从 92 例经证实为 PSTT、ETT 或混合 PSTT/ETT 的患者病历中确定前次妊娠。在 57 例患者中，通过对福尔马林固定、石蜡包埋块中微切割的肿瘤组织进行分子基因分型，确定了本次妊娠的类型和性别。

结果

59 例（64%）前次妊娠为正常活产，19 例（21%）为葡萄胎，14 例（15%）为其他妊娠丢失。在记录了性别的 46 例前次正常妊娠中，36 例（78%）为女性，明显多于预期（p<0.0001）。对 57 例患者进行基因分型发现，15 例（26%）来源于葡萄胎，而 42 例（74%）来源于非葡萄胎妊娠。在非葡萄胎妊娠中，38 例（91%）肿瘤发生在女性妊娠中，明显多于预期（p<0.0001）。对 3 例具有 XY 染色体组成的肿瘤进行 X 染色体短串联重复分析证实，X 染色体来源于母体。