Genomic alterations in retinoblastoma tumors of Argentine patients.

Introduction: Retinoblastoma is initiated by inactivation of gene, but additional alterations may be required for tumor progression. Substitution and INDEL variants in different genes, aside , are infrequent, while large copy number variants (CNVs) like gains on 1q, 2p, 6p and loss on 16q are common, they include oncogenes or tumor suppressors and are typical of retinoblastoma.

Aim: To provide the molecular profile that is useful for prognosis and understanding of retinoblastoma development.

Subsequent malignant neoplasms in the pediatric age in retinoblastoma survivors in Argentina.

Background: Retinoblastoma survivors in low- and middle-income countries are exposed to high-intensity treatments that potentially place them at higher risk of early subsequent malignant neoplasms (SMNs).

Methods: We followed 714 (403 [56.4%] nonhereditary and 311 [43.

Recurrent Somatic Chromosomal Abnormalities in Relapsed Extraocular Retinoblastoma.

Most reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children with extraocular relapse remain unknown, so we aimed to describe the CNA in this population. We evaluated 23 patients and 27 specimens from 4 centers. Seventeen cases had extraocular relapse after initial enucleation and six cases after an initial preservation attempt.

Analysis of complex structural variants in the DMD gene in one family.

This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecular mechanisms causing the complex structural variant (cxSV) identified.

Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort.

Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates for Ataluren treatment and perform carrier status testing. Furthermore, was our goal to characterize the DMD sequence variants and identify ancestral haplotypes.