Studies from Boston Children's Hospital in the Area of Neuroblastomas Described (Osteopathia Striata With Cranial Sclerosis As a Cancer Predisposition Syndrome: the First Report of Neuroblastoma and Review of All Cancers In Oscs).

Předmět:	CHILDREN'S hospitals NEUROBLASTOMA CANCER genetics SYNDROMES MEDICAL genetics
Zdroj:	Blood Weekly; 6/20/2024, p526-526, 1p
Abstrakt:	A recent report from Boston Children's Hospital discusses the rare genetic condition known as Osteopathia Striata with Cranial Sclerosis (OSCS) and its potential link to cancer predisposition. The condition is characterized by bone abnormalities and other congenital anomalies and is caused by pathogenic variants in the AMER1 gene. While somatic AMER1 variants have been found in various tumor types, the association between OSCS and tumors is not well understood. The report presents the first case of neuroblastoma in a child with OSCS and emphasizes the importance of regular surveillance for associated tumors, particularly Wilms tumor. [Extracted from the article]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu