Placental site trophoblastic tumour derived from an oocyte donation pregnancy

Abstract

Eleven years after developing idiopathic ovarian failure in her early twenties, a 32-year-old woman underwent in vitro fertilisation (IVF) in which her partner was the sperm donor and her own sister the oocyte donor. This treatment resulted in the delivery of a healthy girl in January 2004. However, 12 months later, she presented to her GP with left iliac fossa pain and a positive home pregnancy test.Assessment by the local gynaecology team demonstrated a serum human chorionic gonadotrophin (hCG) level varying between 190 and 260 iu/l, while an ultrasound demonstrated a 2-cm uterine mass, which was initially thought to be a fibroid. After further investigations demonstrated a rise in the hCG level, a laparoscopy and dilatation and curettage were performed.Histopathological examination demonstrated fragments of endometrium and myometrium with infiltration of the myometrium by sheets of mitotically active cells with eosinophilic cytoplasm and ovoid nuclei highly suggestive of the diagnosis of placental site trophoblastic tumour (PSTT) (Figure 1).At this point, she was referred to Charing Cross Hospital, London, one of the national centres in the UK for treatment of trophoblastic tumours. Updated investigations demonstrated the hCG level to remain elevated at 111 iu/l. A pelvic Doppler ultrasound confirmed the presence of a 3-cm mass of low vascularity, while pelvic magnetic resonance imaging and a computed tomography (CT) of the chest and abdomen did not show any evidence of distant spread.Following investigations, she was treated surgically with a hysterectomy plus bilateral salpingo-oophorectomy. The pathology confirmed the diagnosis of PSTT confined to the uterus, although malignant cells were found adjacent to the serosal surface.Fluorescent microsatellite genotyping was performed on DNA from tumour cells obtained by microdissection of formalin-fixed, paraffin-embedded sections and from blood samples from the patient, her partner and sister. The genotype of the tumour was disomic, with one allele from the partner and one from the patient's sister for five informative alleles (Table 1). No maternal alleles was identified at any informative loci.Postoperatively, the hCG level fell to normal. However, as malignant cells were present at the serosal resection surface, she received 8 weeks of adjuvant chemotherapy using the paclitaxel/etoposide paclitaxel/cisplatin regimen. 1 Following completion of chemotherapy, a repeat CT scan staging showed no evidence of disease and the hCG level was normal. At the most recent clinic visit 6 months after completing treatment, the hCG remains within the normal range and the patient is clinically well. DiscussionGestational trophoblast disease (GTD) is a rare complication of pregnancy, forming a spectrum of illness from molar pregnancy through choriocarcinoma and PSTT. Overall, in the UK, approximately 100 women require treatment with chemotherapy each year. The majority of these are identified through the UK national molar pregnancy follow-up service; however, choriocarcinoma an...

Genetics of gestational trophoblastic disease

“…However, when paternal samples are not available, caution should be taken to avoid misdiagnosis. For example a non-gestational tumour in a patient with Lynch syndrome may have a high degree of instability suggesting a non-maternal component and falsely suggest an androgenetic tumour [80], as might a case where the patient has a history of IVF with a donor ovum and the maternal contribution is therefore different to that of the patient [83].…”

Absence of Y chromosome in human placental site trophoblastic tumor

“…8 Since then, additional case reports of placental site trophoblastic tumor have been published and again a female antecedent pregnancy was documented in 12 out of 14 new cases. [13][14][15] One cell line from a placental site trophoblastic tumor was established and confirmed by karyotyping to have XX genome. 16 However, the results of both our current and previous investiga- tions contrast to those of a recent genetic analysis of 23 placental site trophoblastic tumors, in which 50% of the tumors were found to contain a Y chromosome.…”