ea0073aep828 | Late Breaking | ECE2021
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...