The role of insulin-like growth factor system in soft tissue sarcomas: from physiopathology to targeted therapeutic approaches.

Purpose/Results. Although surgical, chemo- and radiotherapeutic treatment regimens in patients with soft tissue sarcomas have constantly been refined over the past two decades, the survival rate for these patients is rather low.Discussion.

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here, we report on the genotype/phenotype-correlation of a female patient with a pure trisomy 12p.

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

Objective: We report on the retrospective diagnosis of Nijmegen breakage syndrome (NBS) confirmed by molecular genetic analysis and consecutive prenatal diagnosis in the same family.

Method: Thirteen years after the death of their daughter due to fatal recurrent infections, a couple presented in our genetic counselling unit asking for the recurrence risk of their daughter's disease. Retrospective analysis of the medical record suggested that the girl might have suffered from NBS.

The role of the GH/IGF system in pituitary tumorigenesis.

Pituitary adenomas are mostly benign tumours that originate from differentiated anterior pituitary cells. Altered expression of growth factors or their receptors could enhance clonal expansion of pituitary adenoma cells. GHRH overstimulation or an activating point mutation in the Gs a-subunit leads to increased GH secretion and tumour formation.

Three novel PAX6 mutations in patients with aniridia.

Aims: To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families.

Methods: The PAX6 gene was analysed using single stranded conformational polymorphism analysis and direct sequencing.

Results: In one family, three individuals from two generations had aniridia, whereas in each of the other families only one member was affected.