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BACKGROUND Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB). AIM To investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer. METHODS AND RESULTS The authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of(More)
We present 22 (0.9%) cases of rhabdoid tumour of the kidney diagnosed amongst 2392 renal tumours in children. The patients ages ranged from 3 weeks to 94 months (median 7 months) and the female:male ration was 1.2:1. Clinically, they presented with an abdominal mass but four (18%) children also had hypercalcaemia and one (4.5%) developed a brain tumour(More)
Somatic defects at five loci, WT1, CTNNB1, WTX, TP53 and the imprinted 11p15 region, are implicated in Wilms tumor, the commonest childhood kidney cancer. In this study we analysed all five loci in 120 Wilms tumors. We identified epigenetic 11p15 abnormalities in 69% of tumors, 37% were H19 epimutations and 32% were paternal uniparental disomy (pUPD). We(More)
The previous International Society of Paediatric Oncology (SIOP) trials and studies recognized three prognostic groups of renal tumors of childhood: low risk, intermediate risk, and high risk tumors, which were further defined in the SIOP (Stockholm) Working Classification of Renal Tumors of Childhood (1994). The results of the latest SIOP Trials and(More)
BACKGROUND : Central pathology review (CPR) is an important component of multicenter tumor trials. The authors retrospectively analyzed the quality of pathology material submitted to determine the benefits and limitations of rapid CPR. METHODS : Analysis of pathology specimens from previous renal tumors in children trials (1980-2007) included the number(More)
Whilst examining the variation with age of the nerve fibre content of the cardiac conduction system (CCS), using an immunocytochemical approach, it became evident that in two sudden infant death syndrome (SIDS) cases there was a selective lack of S100 positive nerve fibres in the atrioventricular (AV) node and His bundle. In the present study therefore, the(More)
Fifty-eight human fetal thyroid glands obtained at autopsy were systematically studied for the presence of intrathyroidal parathyroid tissue. The latter was found in 13 thyroid lobes from 12 fetuses. It was located in a subcapsular position in 9 of 58 cases and lying deep in thyroid tissue in 4 of 58. Our findings suggest that intrathyroidal parathyroid(More)
BACKGROUND Mesoblastic nephroma (MN) is a rare tumour which occurs mainly in early infancy and for which primary nephrectomy is the treatment of choice. This study aimed to assess surgical complications and outcomes in this patient group and to re-evaluate the age threshold of 6 months for recommending primary nephrectomy. PROCEDURE A retrospective file(More)
Congenital mesoblastic nephroma (CMN) is a rare pediatric renal tumor with low malignant potential that most commonly occurs early in infancy. Treatment strategies are based on the few published CMN series, while a significant number of CMN patients have been described in case reports. The aim of this narrative review was to create an up-to-date overview of(More)
Inflammatory pseudotumor (IPT) of the kidney is a very rare lesion. We describe an 8-year-old boy with IPT of the kidney presenting as a single episode of hematuria. The case highlights a new feature, metaplastic bone, not previously described in IPT. This new feature may be helpful in establishing the correct preoperative and histopathologic diagnosis of(More)