ESPE Abstracts

Background: CNS tumors are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, we have shown that in paediatric gliomas, IGF-1R nuclear localization was significantly associated with both high grade tumours and increased risk of death, suggesting that nuclear IGF-1R localization may contribute to an aggressive behaviour of these tumours.<p class="...

Background: Gliomas are the most common subgroup of CNS tumours in children. Histologic grading is a means of predicting the biological behavior of these tumours and survival is strongly correlated with tumour gradation. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, nuclear translocation of the type 1 IGF1R has been demonstrated in tumour tissues. Although the IGF1R expression has been described in C...

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

Background and Aim: Gliomas are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. In a previous work we have reported the quantitation of some components of the IGFs system in SNC pediatric tumours (IGF-1, IGF-2, IGF-1R, IR), being IGF-2 expression the most variable among all the genes studied.Our aim w...

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...