China
Africa
Explore chapters and articles related to this topic
Molecular Approaches Towards the Isolation of Pediatric Cancer Predisposition Genes
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
Beckwith-Wiedemann syndrome is a condition involving somatic overgrowth.100,101 In a few cases, it is also associated with a chromosome abnormality involving the distal tip of chromosome 11.102,103 One of the features of this condition is that individuals often develop specific rare pediatric tumors, most frequently Wilms’ tumors, but also hepatoblastomas, rhabdomyosarcomas, adrenal adenocarcinomas, and non-Burkitt’s lymphoma. In some patients, combinations of these tumors have been reported, suggesting a common etiological event arising as a result of a mutation at the same locus. Koufos et al.104 analyzed three hepatoblastomas and showed that in two, homozygosity for chromosome 11 markers developed, while in a third tumor, heterozygosity was retained. There were similar findings in two rhabdomyosarcomas. Markers from other chromosomes were the same in tumor and normal tissues showing that loss of alleles was restricted to chromosome 11. Recently Haas et al.102 reported a patient with BWS who developed nephroblastoma and carried a constitutional chromosome deletion of region 11p11.1-p11.2. These studies suggest a common pathogenicity mechanism by these clinically associated tumor types. It is not clear whether the locus involved is the same or constitutes a complex of several genes in the same region of the chromosome. It does appear, however, that these genes contribute to the normal differentiation of the tissues involved.
Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Beckwith–Wiedemann syndrome is an overgrowth disorder and often presents with increased birth weight and increased growth in early childhood. Facial appearance may be coarse in some cases (Fig. 15.47). Other features include neonatal hypoglycaemia, macroglossia, exomphalos, growth asymmetry (hemihypertrophy), earlobe creases and posterior helical pits and predisposition to embryonal tumours, particularly Wilms tumour. It should be noted that there is no evidence of increased Wilms risk in cases with loss of methylation at KvDMR1 (the largest molecular group).
Pediatrie genitourinary oncology
Published in J Kellogg Parsons, E James Wright, The Brady Urology Manual, 2019
Jennifer Miles-Thomas, Matthew E Nielsen, Caleb P Nelson
Beckwith-Wiedemann syndrome: Have a 4–10% chance of developing Wilms’ tumorAssociated abnormalities include visceromegaly, hemihypertrophy, omphalocele, abdominal wall defects, microcephaly, mental retardation, macroglossia.
Hormones and fetal growth factors
Published in Gynecological Endocrinology, 2022
Ricardo Savirón-Cornudella, Ignacio Herraiz
The PRL- and GH placental family are probably the most relevant fetal growth factors that regulate maternal levels of the insulin-like growth factor-1 (IGF-1) stimulating its production at the maternal liver. IGF-1 stimulates fetal growth when nutrients are available, being especially sensitive to undernutrition [3]. On the contrary, its excessive secretion may be involved in genetic causes of overgrowth conditions, such as in the Beckwith-Wiedemann syndrome. IGF-2 has a similar structure and functions to those of IGF-1, although it belongs to the placental PRL-GH family [1]. It is worth to highlight the role of the pregnancy-associated plasma protein-A, a metalloproteinase produced by the syncytiotrophoblast which facilitates the function of the IGFs. Low concentrations of this key regulator have been associated with fetal growth restriction [4].
Placental Pathology in Beckwith–Wiedemann Syndrome According to Genotype/Epigenotype Subgroups
Published in Fetal and Pediatric Pathology, 2018
Lucie Gaillot-Durand, Frederic Brioude, Claire Beneteau, Frédérique Le Breton, Jerome Massardier, Lucas Michon, Mojgan Devouassoux-Shisheboran, Fabienne Allias
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder, conferring an increased risk of pediatric tumors [1]. Its clinical features are highly variable including macrosomia, macroglossia, abdominal wall defect, visceromegaly, lateralized overgrowth, neonatal hypoglycemia, and ear creases [2–4]. In addition to a wide clinical spectrum, BWS exhibits etiologic molecular heterogeneity, which may be genetic or epigenetic [5]. These abnormalities concern the chromosome 11p15.5 region that is organized into two domains: a telomeric domain including the IGF2 and H19 genes, and a centromeric domain including the CDKN1C, KCNQ1, and KCNQ1OT1 genes. In this region, genes are involved in growth control and cell cycle progression and play an important role in fetal and placental growth [1]. Each domain is controlled by its own imprinting center region (ICR): ICR1 for the telomeric domain and ICR2 for the centromeric domain.
Gene expression analysis and the risk of relapse in favorable histology Wilms’ tumor
Published in Arab Journal of Urology, 2023
Mariam M. Abdel-Monem, Omali Y. El-Khawaga, Amira A. Awadalla, Ashraf T. Hafez, Asmaa E. Ahmed, Mohamed Abdelhameed, Ahmed Abdelhalim
SLC22A18 (solute carrier family 22, member 18) is a tumor suppressor gene located at 11p15. This genetic region is known to harbor genes coding for the Beckwith-Wiedemann syndrome and overgrowth syndromes. Abnormalities of this genetic region have been reported in a variety of cancers including 69% of WTs [7]. SLC22A18 inhibits colony formation and induces G2/M arrest. Downregulation and mutations affecting this gene have been described in glioblastoma, rhabdomyosarcoma, lung, breast and colorectal cancers. Aberrant splicing of this gene has been observed in some WT cases. Downregulation of SLC22A18 has been linked to poor prognosis of glioma and breast cancer [20]. Likewise, we found that patients who suffered WT relapse had lower expression levels of SLC22A18.