Learn More
Each year, endometrial cancer develops in about 142,000 women worldwide, and an estimated 42,000 women die from this cancer. The typical age-incidence curve for endometrial cancer shows that most cases are diagnosed after the menopause, with the highest incidence around the seventh decade of life. The appearance of symptoms early in the course explains why(More)
Purpose: Several scoring systems have been developed to distinguish between benign and malignant adnexal tumors. However, few of them have been externally validated in new populations. Our aim was to compare their performance on a prospectively collected large multicenter data set. Experimental Design: In phase I of the International OvarianTumor Analysis(More)
Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients nemaline myopathy could be demonstrated with histology. The ninth patient presented the same phenotype as his 4 affected siblings in whom the nemaline myopathy could be histologically(More)
A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Küster anomaly). The deletion was inherited from the father, who presented the(More)
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative(More)
We will describe a case of a patient diagnosed with a rare identity of a benign lesion, "reactive nodular fibrous pseudotumor" (RNFP). It is a tumor which preoperatively can present as a malignant tumor and is only reported in 19 cases. According to the very limited amount of information on this tumor in the literature it is mostly seen after trauma or(More)
BACKGROUND Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the(More)
Cancers arise from unregulated cellular growth and exhibits a range of pathophysiological characteristics and behaviour. The term " tumour heterogeneity " encompasses a broad range of tumour features that have arisen as a result of different mechanistic processes including stem-cell origin, tumour evolution (linked to genetic mutations and adverse tumour(More)
BACKGROUND FDG-PET/CT is part of the standard diagnostic management of a patients with a large variety of common and less common malignant tumors, based on the increased glucose metabolism within tumors. CASE PRESENTATION A hybrid fluorodeoxyglucose positron emission tomography and computed tomography (FDG-PET/CT) was performed in a neurofibromatosis(More)
Alimentary tract duplications are rare congenital anomalies. They most often become symptomatic in childhood and rarely undergo malignant transformation. Pseudomyxoma peritonei (PMP) is an equally uncommon condition, most frequently originating from a primary appendiceal mucinous neoplasm. We report an extremely unusual case of PMP arising from an(More)