hrp0086p1-p41 | Adrenal P1 | ESPE2016

RET and TP53 Concomitant Mutations: A Challenging Approach to a Unique Association of High Tumor Predisposing Conditions

Calanchini Matilde , Fabbri Andrea , Grossman Ashley , Jafar-Mohammadi Bahram

Background: A 33-year-old woman with a history of adrenocortical carcinoma (ACC), surgically treated aged 4, presented for prenatal screening at 20 weeks gestation. Ultrasound examination identified that the female foetus had a 3-cm adrenal lesion. She had a positive family history for multiple-endocrine-neoplasia-type 2/MEN2 (paternal grandmother) and her father’s cousin was diagnosed with ACC and Li-Fraumeni syndrome (LFS) at 30 year old. Calcitonin, PTH and cathecholam...