Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …

Meningiomas are extremely common adult brain tumors originating from meningeal
coverings of the brain and spinal cord. While most are slowly growing Word Health …

Background The natural history of multiple endocrine neoplasia type 1 (MEN1) is known
through single-institution or single-family studies. We aimed to analyze the risk factors and …

Context: Multiple endocrine neoplasia Type-1 (MEN1) in young patients is only described by
case reports. Objective: To improve the knowledge of MEN1 natural history before 21 years …

Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients
may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant …

Objective Limited data regarding adrenal involvement in multiple endocrine neoplasia type
1 (MEN1) is available. We describe the characteristics of MEN1-associated adrenal lesions …

Objective. We conducted an extensive review of the literature and tried to cite the most
recent recommendations concerning the pheochromocytoma (PHEO). Methods. Pub Med …

This review will focus on the germline MEN1 mutations that have been reported in patients
with MEN1 and other hereditary endocrine disorders from 2007 to September 2015. A …

Abstract Screening of REarranged during Transfection (RET) gene mutations has been
carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive …

Results Clinical criteria are currently available according to which many hereditary cancer
syndromes can be diagnosed or suspected and which point the way to further molecular …