Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep828 | Late Breaking | ECE2021

Duodenal neuroendocrine tumor (siNET) and Rothmund-Thomson syndrome: a new association of a rare genetic disorder

Paja Fano Miguel , Adela L. Martínez-Martínez , Andoni Monzón , Josune Rodríguez-Soto , Merlo Ignacio , María J García-Barcina , Merino Sonia , M. Carmen González-Serrano

Rothmund-Thomson syndrome (RTS) usually presents with physical stigmata (poikiloderma, ectodermal dysplasia, juvenile cataracts…) and it´s associated with malignancies in patients with homozygous or compound heterozygous mutations in the RECQL4 helicase gene (RTS-II). Neoplasms include osteosarcoma in childhood and skin cancer later in life, with occasional malignancies affecting other tissues (leukemia, lymphoma and gastrointestinal adenocarcinomas). To ou...