Genetics of congenital solid tumors

Abstract

When we discuss the genetics of tumors, we cannot fail to remember that in the second decade of the twentieth century, more precisely in 1914, Theodore Boveri defined for the first time the chromosomal bases of cancer. In the last 30 years, progresses in genetics have only confirmed Boveri's remarkable predictions made more than 80 years ago. Before the cloning of the retinoblastoma 1 (RB1) gene, the existence of a genetic component in most, if not all, solid childhood tumors were well known. The existence of familial tumor aggregations has been found much more frequently than researchers expected to find at random. Sometimes, the demonstration of this family predisposition was very difficult, because the survival of children diagnosed as having a certain tumor, up to an age at which reproduction and procreation is possible, was very rare. In recent years, advances in the diagnosis and treatment of these diseases have made it possible for these children to survive until the age when they were able to start their own families, including the ability to procreate. Four distinct groups of socalled cancer genes have been identified: oncogenes, which promote tumor cell proliferation; tumor suppressor genes, which inhibit this growth/proliferation; anti-mutational genes, with a role in deoxyribonucleic acid (DNA) stability; and micro-ribonucleic acid (miRNA) genes, with a role in the posttranscriptional process.

A Clinical-Epidemiological Study of a Cohort of 105 Patients With Congenital Limb Abnormalities

“…Another similar study, conducted by Jurca et al on 301 patients 24 , highlights the presence of anomalies mainly among males (52%), the predominantly sporadic appearance of these anomalies (83.4% without family history), deformities to the upper limbs in most cases (60.8%), deformities of the lower limbs were less common (15.3%), with both upper and lower limbs affected in almost a quarter of the cases (23.9%). Polydactyly was most frequently found (27.9%).…”

FEZ1 participates in human embryonic brain development by modulating neuronal progenitor subpopulation specification and migrations

“…FEZ1 deletion has been identified in Jacobsen syndrome patients, a rare human neurodevelopmental disorder. 21 , 27 , 28 However, its role in human brain development is unknown. In rodents, detection of FEZ1 mRNA and protein coincided with the height of neurogenesis, indicating its likely involvement in the earliest phases of brain development.…”

Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant

“…The present patient was considered on the lesser end of the disease spectrum in the Dandy-Walker continuum. Also known as the Dandy-Walker complex (DWC), this spectrum represents a continuum of posterior fossa anomalies that could range from mild (mega-cisterna magna only) to moderate (mild hypoplasia of vermis, enlarged fourth ventricle) to severe (agenesis of vermis, dilation of posterior fossa cyst and fourth ventricle) [ 4 , 17 ]. In this case, this wide disease spectrum expanded the differential diagnosis to also include mega-cisterna magna, posterior fossa arachnoid cyst, persistent Blake pouch cyst, fourth ventriculocele, and congenital vermian hypoplasia.…”