RESUMEN
Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme. Of a total of 3,566 index patients tested between January 2000 and June 2018, 68 had Madeira ancestry and 22 were diagnosed with a pathogenic germline variant (PV). As in the whole group, BRCA2 PV were more frequent in Madeira patients (68.4%: c.9382C>T (26.3%), c.658_659del (21%), c.156_157insAlu (10.5%), c.793+1G>A (5.3%) and c.298A>T (5.3%). However, the most frequently diagnosed PV in Madeira patients was the BRCA1 c.3331_3334del (31.6%). BRCA1/2 detection rates were 27.9% and 10.5% for Madeira and the whole group, respectively. This study is the first characterisation of HBOC patients with Madeira ancestry. A distinct pattern of BRCA1/2 variants was observed, and the geographic clustering of BRCA1 c.3331_3334del variant may support the possibility of a founder mutation previously described in Northern Portugal. The high detection rate observed reinforces the need to reduce gaps in access to genetic testing in Madeira and other remote areas. According to current guidelines, timely identification of HBOC patients can contribute to their ongoing care and treatment.
RESUMEN
Solid pseudopapillary neoplasms (SPNs) are rare pancreatic cystic neoplasms occurring predominantly in young women and diagnosis is often a challenge. This report describes the case of a 23-year-old primigravida who presented with abnormally elevated liver blood tests at 24 weeks of gestation. Imaging studies were suggestive of SPN with metastatic liver disease. A multidisciplinary team approach decided on a preterm caesarean delivery of a healthy female child at 36 weeks of gestation. Subsequently, a CT-guided biopsy was performed, with confirmation of SPN in the anatomopathological study. Subpartial pancreatectomy, partial gastrectomy, cholecystectomy, total splenectomy and partial hepatectomy were successfully performed. A 3-month control CT scan and positron emission tomography-CT studies revealed disease recurrence with pulmonary and liver metastatic disease. The patient was started on a palliative chemotherapy protocol with good tolerance. To our knowledge this is the first case of a SPN described in pregnancy with distant metastasis and disseminated recurrence after surgical treatment.