hrp0095rfc1.3 | Thyroid | ESPE2022

The importance of extra-endocrine features at infancy in multiple endocrine neoplasia type 2B for early diagnosis

Giulia Mirra , Annalisa Deodati , Maria Elisa Amodeo , D'Aniello Francesco , Armando Grossi , Emanuele Agolini , Marco Cappa , Grazia Maria Ubertini

Background: Multiple endocrine neoplasia type 2B is a rare genetic syndrome caused by germline mutations in the RET proto-oncogene. Approximately 75% of MEN2B cases are sporadic and caused by de novo RET mutations, whereas 25% of cases occurs in families with an autosomal dominant inheritance. The most common RET mutation found in 95% of MEN2B patients is the substitution of the amino-acid threonine for methionine at codon 918. In infants with de novo mutation...

hrp0095p1-188 | Thyroid | ESPE2022

A case report of Hirschsprung Disease and C Cell Hyperplasia: a new RET gene variant?

d'Aniello Francesco , Ubertini Graziamaria , Mirra Giulia , Elisa Amodeo Maria , Deodati Annalisa , Daniela Iacobelli Barbara , Agolini Emanuele , De Vito Rita , Grossi Armando , Cappa Marco

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...