Endocrine Abstracts

DICER1 is a microRNA processing-RNase III-type endoribonuclease and is crucial for embryogenesis and early development. Nearly 50 different heterozygous germ-line DICER1 mutations have been reported world-wide in individuals who developed, as children or young adults, pleuropulmonary blastoma, cystic nephroma, ovarian sex cord stromal tumors (especially Sertoli–Leydig cell tumor), multi-nodular goiter, embryonal rhabdomyosarcoma (of cervix and other typical sites), Wilms ...

Pheochromocytomas and paragangliomas (PCC/PGL) are rare tumours of the adrenal gland or derived from sympathetic and parasympathetic paraganglia occurring sporadically or as part of a familial cancer syndrome. Up to 20% of them are diagnosed in children, and they are not genetically well characterized. As most are functional tumors, children more often present with signs and symptoms related to hypertension. In fact, sustained hypertension is found in more than 60–90% of ...

Li Fraumeni syndrome (LFS) is a prototypic cancer predisposition syndrome, characterized by multiple, early-onset malignant tumours including breast cancer, bone and soft tissue sarcomas, brain tumors and adrenocortical carcinoma (ACC). LFS is most commonly attributed to germline mutations in the TP53 tumor-suppressor gene. p53 activity is tightly regulated by multiple post-translational mechanisms, disruption of which may lead to tumorigenesis. ACC occurs at disproportionatel...