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Bisogno G.,University of Padua | Ferrari A.,Pediatric Oncology | Bien E.,Medical University of Gdansk | Brecht I.B.,University Childrens Hospital Erlangen | And 7 more authors.
Klinische Padiatrie

The low incidence and the heterogeneity of very rare tumors (VRTs) demand for international cooperation. In 2008, EXPeRT (European Cooperative Study Group for Pediatric Rare Tumors) was founded by national groups from Italy, France, United Kingdom, Poland and Germany. The first aims of EXPeRT were to agree on a uniform definition of VRTs and to develop the currently most relevant scientific questions. Current initiatives include international data exchange, retrospective and prospective studies of specific entities, and the development of harmonized and internationally recognized guidelines. Moreover, EXPeRT established a network for expert consultation to assist in clinical decision in VRTs. © Georg Thieme Verlag KG Stuttgart New York. Source

Beck B.B.,University of Cologne | Habbig S.,University of Cologne | Dittrich K.,University Childrens Hospital Erlangen | Stippel D.,University of Cologne | And 7 more authors.
Nephrology Dialysis Transplantation

Background The infantile form of primary hyperoxaluria type I (PHI) is the most devastating PH subtype leading to early end-stage renal failure and severe systemic oxalosis. Combined or sequential liverkidney transplantation (LKTx) is the only curative option but it involves substantial risks, especially in critically ill infants. The procedure also requires resources that are simply not available to many children suffering from PHI worldwide. Less invasive and less complex therapeutic interventions allowing a better timing are clearly needed. Liver cell transplantation (LCT) may expand the narrow spectrum of auxiliary measures to buy time until LKTx for infants can be performed more safely. Methods We performed LCT (male neonate donor) in a 15-month-old female in reduced general condition suffering from systemic oxalosis. Renal replacement therapy, initiated at the age of 3 months, was complicated by continuous haemodialysis access problems. Living donor liver transplantation was not available for this patient. Plasma oxalate (Pox) was used as the primary outcome measure. Results Pox decreased from 104.3 ± 8.4 prior to 70.0 ± 15.0 μmol/L from Day 14 to Day 56 after LCT. A significant persistent Pox reduction (P < 0.001) comparing mean levels prior to (103.8 μmol/L) and after Day 14 of LCT until LKTx (77.3 μmol/L) was seen, although a secondary increase and wider range of Pox was also observed. In parallel, the patient's clinical situation markedly improved and the girl received a cadaveric LKTx 12 months after LCT. However, biopsy specimens taken from the explanted liver did not show male donor cells by amelogenin polymerase chain reaction. Conclusions With due caution, our pilot data indicate that LCT in infantile oxalosis warrants further investigation. Improvement of protocol and methodology is clearly needed in order to develop a procedure that could assist in the cure of PHI. © 2012 The Author. Source

Stachowicz-Stencel T.,Medical University of Gdansk | Orbach D.,University Pierre and Marie Curie | Brecht I.,University Childrens Hospital Erlangen | Schneider D.,Clinic of Pediatrics | And 6 more authors.
European Journal of Cancer

Background Thymomas and thymic carcinomas belong to a group of thymic epithelial tumours arising from the anterior mediastinum and, are extremely rare in children in which no therapeutic guidelines have been established. The aim is to describe paediatric characteristics of these tumours and give some therapeutic indications. Methods Retrospective analysis of clinical data and therapeutic characteristics of paediatric patients less than 18 years with thymic tumours treated between 2000 and 2012 registered in the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) database of the cooperating national rare paediatric tumour working groups from France, Italy, Germany and Poland. Results Sixteen children with thymoma, median age 11 years and 20 patients with thymic carcinoma, median age 14 years were enrolled into study. At diagnosis complete primary resection was possible in 11 patients with thymoma and one with thymic carcinoma; resection with microscopic residue was performed in three cases and incomplete resection with macroscopic residue in four patients. Chemotherapy with various regimens was administered to 22 children; 17 of them as neoadjuvant chemotherapy. Eight patients with thymic carcinoma received additional radiotherapy. Seventeen children died (15 thymic carcinoma, two thymoma). Five-year overall survival for patients with thymic carcinoma is 21.0 ± 10.0%. Conclusions This study confirms the possibility to perform European retrospective analysis even in very rare paediatric tumours. Thymic carcinoma is associated with paediatric patients to give a very poor prognosis independently despite multimodal management. Multidisciplinary, multicenter approach and collaboration with adults' physician are necessary in order to propose homogenous guidelines. © 2015 Elsevier Ltd. All rights reserved. Source

Brecht I.,University Childrens Hospital Erlangen | Schneider D.,Clinic of Pediatrics | Klppel G.,Ludwig Maximilians University of Munich | Von Schweinitz D.,University of Kiel | And 2 more authors.
Klinische Padiatrie

Background: Malignant pancreatic tumors are rare in young patients, few epidemiologic data are available. We reviewed prognostic factors and outcome of 228 patients < 30 years with malignant pancreatic tumors identifi ed through the U.S. National Cancer Institute's SEER (Surveillance, Epidemiology, and End Results) Public-use Database from 1973 to 2004. Methods: Cases were grouped using the ICDO- 3. 5-year overall survival (OAS) was assessed by gender, ethnicity, SEER stage, and 5-year age intervals using univariate and Cox regression analysis. Results: 228 patients with malignant pancreatic tumors were identifi ed, resulting in an incidence of 0.46/million (100 carcinomas, 85 endocrine tumors, 8 solid pseudopapillary neoplasms (SPN), 11 pancreatoblastomas) in the USA. OAS was worse in males than females (37 % vs. 55 %, p = 0.005). OAS according to stage was 87 %, 68 %, 21 % for local (n = 54), regional (n = 42), distant metastatic disease (n = 108), respectively. OAS of patients with carcinoma was 33 %, endocrine tumors 58 %, SPNs 88 %, pancreatoblastomas 66 %. Cox regression revealed stage (p = < 0.001), histology (p = < 0.001), age group (p = 0.05) to be independent prognostic factors. Conclusion: Malignant pancreatic tumors are extremely rare in children and young adults. Entities change over the age groups towards more carcinomas with worse outcome in older patients. Tumor stage, histology and age group are important predictors for outcome. International collaboration is needed to learn more about pediatric pancreatic tumors. © Georg Thieme Verlag KG · Stuttgart · New York. Source

Meissner B.,University of Kiel | Meissner B.,Hannover Medical School | Bartram T.,University of Kiel | Eckert C.,Charite University Hospital | And 29 more authors.
Human Molecular Genetics

Acute lymphoblastic leukemia (ALL) accounts for ~25% of pediatric malignancies. Of interest, the incidence of ALL is observed ~20% higher in males relative to females. The mechanism behind the phenomenon of sex-specific differences is presently not understood. Employing genome-wide genetic aberration screening in 19 ALL samples, one of the most recurrent lesions identified was monoallelic deletion of the 5' region of SLX4IP. We characterized this deletion by conventional molecular genetic techniques and analyzed its interrelationships with biological and clinical characteristics using specimens and data from 993 pediatric patients enrolled into trial AIEOP-BFM ALL 2000. Deletion of SLX4IP was detected in ~30% of patients. Breakpoints within SLX4IP were defined to recurrent positions and revealed junctions with typical characteristics of illegitimate V(D)Jmediated recombination. In initial and validation analyses, SLX4IP deletions were significantly associated with male gender and ETV6/RUNX1-rearranged ALL (both overall P < 0.0001). For mechanistic validation, a second recurrent deletion affecting TAL1 and caused by the same molecular mechanism was analyzed in 1149 T-cell ALL patients. Validating a differential role by sex of illegitimate V(D)J-mediated recombination at the TAL1 locus, 128 out of 1149 T-cell ALL samples bore a deletion and males were significantly more often affected (P 5 0.002). The repeatedly detected association of SLX4IP deletion with male sex and the extension of the sex bias to deletion of the TAL1 locus suggest that differential illegitimate V(D)J-mediated recombination events at specific loci may contribute to the consistent observation of higher incidence rates of childhood ALL in boys compared with girls. © The Author 2013.Published by Oxford University Press. All rights reserved. Source

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