Journal article
The Clinical Phenotype of YWHAE-NUTM2B/E Positive Pediatric Clear Cell Sarcoma of the Kidney
Genes chromosomes & cancer, Vol.55(2), pp.143-147
02/01/2016
DOI: 10.1002/gcc.22320
PMID: 26542179
Abstract
Clear cell sarcoma of the kidney (CCSK) although uncommon, is the second most frequent renal malignancy of childhood. Until now, the sole recurrent genetic aberration identified in CCSKs is t(10;17)(q22;p13), which gives rise to a fusion transcript of YWHAE and NUTM2B/E. So far, the clinical relevance of this fusion transcript is unknown. The aim of this descriptive study was to determine the clinical phenotype of t(10; 17)(q22; p13) positive CCSKs. Snap-frozen tissues, formalin-fixed paraffin-embedded tissues or RNA previously extracted from CCSK samples throughout European, North-American and Japanese study groups were screened by RT-PCR for the YWHAE-NUTM2B/E transcript. Clinical characteristics, tumor characteristics, and outcome of patients with and without the fusion transcript were studied. The cohort comprised 51 previously published cases to which were added 139 internationally collected CCSK samples. RNA from 57 of these additionally collected cases was of sufficient quality to be successfully screened for the YWHAE-NUTM2B/E transcript. In total, seven of the 108 cases harbored the fusion transcript. Patients with tumors containing the fusion transcript were relatively young (median age 10 months), had associated low median tumor volumes and stage I disease was not observed in these patients. Two of seven patients relapsed and one of seven patients died of disease. Ranges of values were not overtly different between patients with and without the fusion transcript; however, the number of fusion transcript positive cases turned out to be too small to permit reliable statistical analysis. The current study did not identify an explicit clinical phenotype of CCSK cases harboring the YWHAE-NUTM2B/E fusion transcript. (C) 2015 Wiley Periodicals, Inc.
Details
- Title: Subtitle
- The Clinical Phenotype of YWHAE-NUTM2B/E Positive Pediatric Clear Cell Sarcoma of the Kidney
- Creators
- Saskia L. Gooskens - Erasmus MC - Sophia Children’s HospitalColin Kenny - National Children’s Research CentreAntonio Lazaro - National Children’s Research CentreElaine O'Meara - National Children’s Research CentreHarm van Tinteren - The Netherlands Cancer InstituteFilippo Spreafico - Fondazione IRCCS Istituto Nazionale dei TumoriGordan Vujanic - Cardiff UniversityIvo Leuschner - University Hospital Schleswig-HolsteinAurore Coulomb-L'Hermine - Department of Pathology Hopitaux Universitaires Est Parisien Trousseau La Roche‐Guyon Paris FranceDaniela Perotti - Fondazione IRCCS Istituto Nazionale dei TumoriBeatriz de Camargo - Instituto Nacional do CâncerChristophe Bergeron - Centre Léon BérardTomas Acha Garcia - Hospital Materno-InfantilMio Tanaka - Kanagawa Children's Medical CenterRob Pieters - Princess Máxima CenterKathy Pritchard-Jones - Department of Pediatric Hematology and Oncology; Institute of Child Health, University College; London UKNorbert Graf - Department of Pediatric Hematology/Oncology, University Hospital for Children, Homburg, GermanyMarry M. van den Heuvel-Eibrink - Princess Máxima CenterMaureen J. O'Sullivan - Our Lady's Hospital
- Resource Type
- Journal article
- Publication Details
- Genes chromosomes & cancer, Vol.55(2), pp.143-147
- Publisher
- Wiley
- DOI
- 10.1002/gcc.22320
- PMID
- 26542179
- ISSN
- 1045-2257
- eISSN
- 1098-2264
- Number of pages
- 5
- Grant note
- Associazione Bianca Garavaglia, Busto Arsizio, Varese, Italy 15K10931 / Grants-in-Aid for Scientific Research; Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT); Japan Society for the Promotion of Science; Grants-in-Aid for Scientific Research (KAKENHI) Pediatric Oncology Center Society for Research (KOCR, Rotterdam, The Netherlands) DaDa foundation (Nieuwerkerk a/d Ijssel, The Netherlands) 17297 / Cancer Research UK CSA-2012-13 / Clinician Scientist Award from Health Research Board of Ireland W1090 / Great Ormond Street Hospital Childrens Charity
- Language
- English
- Date published
- 02/01/2016
- Academic Unit
- Surgery
- Record Identifier
- 9984322816502771
Metrics
24 Record Views