High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

We have screened 473 breast/ovarian cancer patients with family history, aiming to define the prevalence and enrich the spectrum of BRCA1/2 pathogenic mutations occurring in the Greek population. An overall mutation prevalence of 32% was observed. Six BRCA1 recurrent/founder mutations dominate the observed spectrum (58.5% of all mutations found). These include three mutations in exon 20 and three large genomic deletions. Of the 44 different deleterious mutations found in both genes, 16 are novel and reported here for the first time. Correlation with available histopathology data showed that 80% of BRCA1 carriers presented a triple-negative breast cancer phenotype while 82% of BRCA2 carriers had oestrogen receptor positive tumours. This study provides a comprehensive view of the frequency, type and distribution of BRCA1/2 mutations in the Greek population as well as an insight of the screening strategy of choice for patients of Greek origin. We conclude that the Greek population has a diverse mutation spectrum influenced by strong founder effects.

Preimplantation genetic diagnosis in marfan syndrome.

Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (COH), in vitro fertilization (IVF) combined with preimplantation genetic diagnosis (PGD), and a singleton pregnancy with positive fetal heart rate was revealed. At 34 weeks' gestation she delivered vaginally a healthy premature male infant weighting 2440 gr. The patient remained asymptomatic during pregnancy, delivery, and 3 months postpartum. It is has to be mentioned that the availability of PGD is essential to prevent the transmission of disease to the next generation.

Successful management of evisceration occurred after exploratory laparotomy for bilateral ovarian micropapillary serous borderline tumors.

Micropapillary serous borderline tumor of the ovary is characterized by a more frequent association with extraovarian, especially invasive, implants. The aim of this study was to report the clinicopathological findings of a rare case of micropapillary serous borderline tumor of the ovary since there are less than 100 similar cases in the published literature. Additionally, the successful management of evisceration that complicated the postoperative stay of the patient is analyzed. The incidence of this severe complication is estimated between 0.29-2.3%. There are four main causes: suture tearing through the fascia, knot failure, suture failure, and extrusion of abdominal contents between sutures placed too far apart. At least 50% of the cases are due to technical error with a potentially lethal result.

Pure vulvar Langerhans cell histiocytosis: a case report and literature review.

Langerhans cell histiocytosis (LCH) of the female genital tract is a very rare disease. Only 16 cases of primary vulvar LCH without subsequent systemic spread of disease have previously been published in the literature. We describe an additional case of LCH in which the lesion was confined to the vulva. A 52-year-old Caucasian woman presented for further investigation with a 6-month history of vulvar pruritus. Physical examination revealed multiple fine red papules on both labia minor. A metastatic workup did not reveal any evidence of disease beyond the vulva. The lesion was biopsied, and histological findings were characteristic of LCH. The patient was treated by local extirpation of both labia minor. Ten months after surgery, the patient has no signs of local recurrence or systemic spread. It is necessary to perform a biopsy of the lesions when a woman presents atypical chronic lesions on the vulva. Although different treatment has been proposed, complete surgical excision is fundamental in "pure" genital Langerhans cell histiocytosis as initial therapy.