BackgroundLynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population.MethodsUniversal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed.ResultsOne hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques.ConclusionThe prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended.
BackgroundBreast cancer is one of the most important neoplasia among women. It was recently suggested that biological agents could be the etiological cause, particularly Human Papilloma Virus (HPV). The aim of this study was to explore the presence of HPV DNA in a case-control study.MethodsWe performed our study including 251 cases (breast cancer) and 186 controls (benign breast tumors), using three different molecular techniques with PCR (GP5/GP6, CLART® and DIRECT FLOW CHIP®).ResultsHPV DNA was evidenced in 51.8% of the cases and in 26.3% of the controls (p < 0.001). HPV-16 was the most prevalent serotype. The odds ratio (OR) of HPV within a multivariate model, taking into account age and breastfeeding, was 4.034.ConclusionsOur study, with methodological rigour and a sample size not previously found in the literature, demonstrate a significant presence of HPV DNA in breast cancer samples. A possible causal relationship, or mediation or not as a cofactor, remains to be established by future studies.
Acute genital ulcers, also known as acute vulvar ulcers, ulcus vulvae acutum or Lipschütz ulcers, refer to an ulceration of the vulva or lower vagina of non-venereal origin that usually presents in young women, predominantly virgins. Although its incidence is unknown, it seems a rare entity, with few cases reported in the literature. Their aetiology and pathogenesis are still unknown. The disease is characterised by an acute onset of flu-like symptoms with single or multiple painful ulcers on the vulva. Diagnosis is mainly clinical, after exclusion of other causes of vulvar ulcers. The treatment is mainly symptomatic, with spontaneous resolution in 2 weeks and without recurrences in most cases. We present a case report of a 13-year-old girl with two episodes of acute ulcers that fit the clinical criteria for Lipschütz ulcers.
We report a rare case of duodenal duplication cyst that was suspected prenatally. Routine prenatal sonography (US) at 19 weeks' gestation showed an abdominal cystic mass on the left side of the abdomen. Follow-up US examinations showed a partial "double-wall" sign, highly suggestive of enteric duplication, and changes in cyst size and wall thickness. Postnatal US examination suggested enteric duplication cyst. A laparotomy revealed a duodenal cyst that was completely resected. The antenatal US findings associated with this condition, the accuracy of its antenatal diagnosis, and its differential diagnosis are discussed.
Justificación de la Guía de cribado del cáncer de cuello de útero en España, 2014 El cáncer de cuello uterino (CCU) es la tercera neoplasia más frecuen-te en el mundo en las mujeres. El cribado de mujeres sanas mediante citología cervical ha demostrado claramente su eficacia, puesto que su aplicación de forma adecuada y sistemática en determinados paí-ses ha conseguido reducir en un 70-80% la incidencia y mortalidad por CCU. Este beneficio se debe a la detección de lesiones premalignas asintomáticas cuyo diagnóstico y tratamiento evita su progresión a carcinoma invasor. En las dos últimas décadas, múltiples estudios han aportado una só-lida evidencia que confirma al virus del papiloma humano (VPH) como agente causal de la práctica totalidad de los casos de CCU y de sus lesio-nes precursoras. Un número limitado de genotipos de VPH de alto ries-go oncogénico (VPH-AR) está causalmente implicado. Concretamente, los VPH 16 y 18 explican el 70% de los CCU y otros 10 tipos (VPH 45, 31, 33, 52, 58, 35, 59, 56, 51 y 39) explican el 25-35% de los casos restantes. Esta información ha permitido establecer un nuevo modelo de carcino-génesis basado en la persistencia de la infección por VPH como ele-mento necesario para el desarrollo de lesiones precursoras y CCU. Sin embargo, más del 90% de las infecciones por VPH son transitorias y, por tanto, irrelevantes desde el punto de vista oncogénico. Durante los pri-meros años de vida sexual se observa una elevada incidencia de infec-ción, pero la mayoría de estas infecciones son transitorias y desaparecen espontáneamente. Las mujeres mayores de 30 años experimentan una clara disminución de la prevalencia de la infección por VPH, pero un
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