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Our results show that tubal ectopic hydatidiform mole is a rare entity and demonstrate that it is over-diagnosed. Polar trophoblastic proliferation and hydropic villi are features of early placentation and of hydropic abortion. Sheets of extravillous trophoblast may be particularly prominent in tubal ectopic gestation. In the absence of circumferential trophoblastic proliferation combined with hydropic change a diagnosis of gestational trophoblastic disease should be avoided.

Fanconi anaemia (FA) is an inherited condition characterised by congenital and developmental abnormalities and a strong cancer predisposition. In around 3-5% of cases FA is caused by biallelic mutations in the BRCA2 gene. Individuals heterozygous for BRCA2 mutations have an increased risk of inherited breast and ovarian cancer. We reviewed the mutation spectrum in BRCA2-associated FA, and the spectrum and frequency of BRCA2 mutations in distinct populations. The rarity of FA due to biallelic BRCA2 mutations supports a fundamental role of BRCA2 for prevention of malignant transformation during development. The spectrum of malignancies seen associated with FA support the concept of a tissue selectivity of BRCA2 mutations for development of FA-associated cancers. This specificity is illustrated by the distinct FA-associated BRCA2 mutations that appear to predispose to specific brain or haematological malignancies. For some populations, the number of FA-patients with biallelic BRCA2 disruption is smaller than that expected from the carrier frequency, and this implies that some pregnancies with biallelic BRCA2 mutations do not go to term. The apparent discrepancy between expected and observed incidence of BRCA2 mutation-associated FA in high-frequency carrier populations has important implications for the genetic counselling of couples with recurrent miscarriages from high-risk populations.

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The objective of this study was to determine the clinical presentation, treatment, and outcome of patients diagnosed with possible ectopic molar gestation registered with the Trophoblastic Disease Screening and Treatment Centre, Weston Park Hospital, Sheffield between 1986 and 2000. From the 5581 women registered, those with a diagnosis of ectopic molar pregnancy were identified from a computer database. Information regarding the relevant history of each patient and the clinical presentation, treatment, and outcomes of gestational trophoblastic disease (GTD) was determined by reviewing referral forms, case notes, and pro formas completed by the referring gynecologist. Histological review of the cases was undertaken where possible. Suspected ectopic molar gestations comprised 31/5581 (0.55%) of registrations. Known risk factors for ectopic pregnancy were identified in 79% of cases. Central histological review confirmed only six cases of GTD: three choriocarcinoma and three early complete moles. Four patients subsequently required chemotherapy. All patients are now in complete remission. We conclude that ectopic GTD is uncommon, with a UK incidence of approximately 1.5 per 1,000,000 births. Initial management is usually surgical removal of the conceptus, pathological suspicion of the diagnosis and registration with a screening center. Chemotherapy may be required and the prognosis is excellent.

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