There is no evidence that the SDHB gene is involved in neuroblastoma development

被引:14
作者
Grau, E
Oltra, S
Orellana, C
Hernández-Martí, M
Castel, V
Martínez, F
机构
[1] Hosp Univ La Fe, Unidad Genet & Diagnost Prenatal, Valencia 46009, Spain
[2] Hosp Univ La Fe, Serv Anat Patol, Valencia 46009, Spain
[3] Hosp Univ La Fe, Unidad Oncol Pediat, Valencia 46009, Spain
关键词
SDHB gene; neuroblastoma development; succinate dehydrogenase;
D O I
10.3727/096504005776449671
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Neuroblastoma and pheochromocytoma have the same embryonal origin. They originate from neural crest cells, and they usually affect suprarenal glands. The SDHB gene encodes the B subunit of succinate dehydrogenase, a protein implicated in the electron transport chain and Krebs cycle. Some mutations have been described in this gene in pheochromocytoma, and this gene could be an appropriate candidate for its study in neuroblastoma. given its localization in 1p35-36. The aim of this study was to analyze neuroblastoma tumors in order to assess a possible implication of this gene in neuroblastoma development. We studied 28 neuroblastoma tumor samples from different stages. Mutation research in genomic DNA was carried out after individual amplification of each of the eight SDHB exons by SSCP analysis and sequencing of those samples with migration pattern variants. No variant was found except for three polymorphisms in four neuroblastoma samples. The first polymorphism was a synonymous A --> C change in the third position of codon 6 (exon 1). The other two polymorphisms were a TTC insert at the 5' flanking intron sequence of exon 5 in a stretch of seven TTC repeats. Upon the basis of posterior microsatellite instability and hypermethylation promoter studies, which were not significant, we can conclude that the SDHB gene, a positional candidate gene, is unlikely to be related to either initiation or tumoral progression in neuroblastoma.
引用
收藏
页码:393 / 398
页数:6
相关论文
共 14 条
[1]  
Alonso M, 2001, CANCER RES, V61, P2124
[2]   Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma [J].
Astuti, D ;
Morris, M ;
Krona, C ;
Abel, F ;
Gentle, D ;
Martinsson, T ;
Kogner, P ;
Neumann, HPH ;
Voutilainen, R ;
Eng, C ;
Rustin, P ;
Latif, F ;
Maher, ER .
BRITISH JOURNAL OF CANCER, 2004, 91 (10) :1835-1841
[3]   Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma [J].
Astuti, D ;
Latif, F ;
Dallol, A ;
Dahia, PLM ;
Douglas, F ;
George, E ;
Sköldberg, F ;
Husebye, ES ;
Eng, C ;
Maher, ER .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) :49-54
[4]   Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas [J].
Baysal, BE ;
Willett-Brozick, JE ;
Lawrence, EC ;
Drovdlic, CM ;
Savul, SA ;
McLeod, DR ;
Yee, HA ;
Brackmann, DE ;
Slattery, WH ;
Myers, EN ;
Ferrell, RE ;
Rubinstein, WS .
JOURNAL OF MEDICAL GENETICS, 2002, 39 (03) :178-183
[5]   Neuroblastoma tumour genetics: clinical and biological aspects [J].
Bown, N .
JOURNAL OF CLINICAL PATHOLOGY, 2001, 54 (12) :897-910
[6]   SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation [J].
Cascon, A. ;
Cebrian, A. ;
Ruiz-Llorente, S. ;
Telleria, D. ;
Benitez, J. ;
Robledo, M. .
JOURNAL OF MEDICAL GENETICS, 2002, 39 (10) :E64
[7]   No evidence for involvement of SDHD in neuroblastoma pathogenesis -: art. no. 55 [J].
De Preter, K ;
Vandesompele, J ;
Hoebeeck, J ;
Vandenbroecke, C ;
Smet, J ;
Nuyts, A ;
Laureys, G ;
Combaret, V ;
Van Roy, N ;
Roels, F ;
Van Coster, R ;
Praet, M ;
De Paepe, A ;
Speleman, F .
BMC CANCER, 2004, 4 (1)
[8]  
Gimenez-Roqueplo AP, 2003, CANCER RES, V63, P5615
[9]   THE GENE FOR THE IRON-SULFUR PROTEIN OF SUCCINATE-DEHYDROGENASE (SDH-IP) MAPS TO HUMAN-CHROMOSOME 1P35-36.1 [J].
LECKSCHAT, S ;
REAMROBINSON, D ;
SCHEFFLER, IE .
SOMATIC CELL AND MOLECULAR GENETICS, 1993, 19 (05) :505-511
[10]   A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas [J].
Maier-Woelfle, M ;
Brändle, M ;
Komminoth, P ;
Saremaslani, P ;
Schmid, S ;
Locer, T ;
Heitz, PU ;
Krull, I ;
Galeazzi, RL ;
Schmid, C ;
Perren, A .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (01) :362-367