دورية أكاديمية
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
| العنوان: | Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation. |
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| المؤلفون: | Brichard, Bénédicte, Heusterspreute, Michel, De Potter, Patrick, Chantrain, Christophe, Vermylen, Christiane, Sibille, Catherine, Gala, Jean-Luc |
| المساهمون: | UCL - (SLuc) Service d'ophtalmologie, UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, UCL - (SLuc) Centre du cancer, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - MD/MINT - Département de médecine interne |
| المصدر: | European Journal of Cancer, Vol. 42, no. 1, p. 65-72 (2006) |
| بيانات النشر: | Pergamon |
| سنة النشر: | 2006 |
| المجموعة: | DIAL@USL-B (Université Saint-Louis, Bruxelles) |
| مصطلحات موضوعية: | Adult, Age Factors, Blotting, Southern, Female, Genes, Retinoblastoma, Germ-Line Mutation, Humans, Male, Pedigree, Retinal Neoplasms, Retinoblastoma Protein |
| الوصف: | Conclusive identification of RB1 mutations in retinoblastoma is predicted to improve the clinical management of affected children and relatives. However, despite clear clinical benefits, RB1 screening remains difficult, most of the alterations being unique and randomly distributed throughout the entire coding sequence. In this report, we present the results of a constitutional RB1 analysis undertaken in our institution over the last four years. The detection of RB1 gene deletion or mutation was performed by Southern blot and sequence analyses in 73 patients (including three families with 2, 3 and 3 probands, respectively). Complementary constitutional chromosome and fluorescent in situ hybridization (FISH) analyses of RB1 gene were applied in cases where hereditary retinoblastoma was suspected despite negative detection. Altogether, germline abnormalities were found in 11% (4/36 patients) of sporadic unilateral retinoblastoma (median age, 21.5 months) and 86% (32/37 patients) of sporadic bilateral or positive familial history retinoblastoma (median age, 5 months). The spectrum of germline alterations found in 31 distinct families included 12 nonsense mutations (39%); 10 point insertions or deletions with frameshift (32%); 4 mutations and 1 deletion affecting splice sites (16%); 2 missense mutations (6%); and 2 large deletions (6%). A total of 15 mutations have not been previously reported. In this small series, splicing mutations were associated with bilateral disease whilst most of the frameshift mutations were identified in patients with an early age at diagnosis, bilateral disease or hereditary forms of the disease. This study confirms that screening for constitutional RB1 mutation should become an integral part of current management of any patient affected by retinoblastoma irrespective of the tumour laterality and familial background. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0959-8049 1879-0852 |
| العلاقة: | boreal:10424; http://hdl.handle.net/2078.1/10424Test; info:pmid/16343894; urn:ISSN:0959-8049; urn:EISSN:1879-0852 |
| DOI: | 10.1016/j.ejca.2005.07.027 |
| الإتاحة: | https://doi.org/10.1016/j.ejca.2005.07.027Test http://hdl.handle.net/2078.1/10424Test |
| حقوق: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.99004822 |
| قاعدة البيانات: | BASE |
| تدمد: | 09598049 18790852 |
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| DOI: | 10.1016/j.ejca.2005.07.027 |