Table 6.
Villani et al. 2016 version of the surveillance protocol for children (birth to age 18 years) with germline TP53 pathogenic variants.
Adrenocortical Carcinoma | Ultrasound of abdomen and pelvis every 3–4 months Blood tests every 3–4 months: 17-OH-progesterone, total testosterone, dehydroepiandrosterone sulfate, androstenedione 24 h urine cortisol, if feasible |
Brain tumor | Annual brain MRI |
Soft tissue and bone sarcoma | Annual rapid whole-body MRI |
Leukemia or lymphoma | Blood tests every 3–4 months*: complete blood count, erythrocyte sedimentation rate, lactate dehydrogenase |
General assessment | Complete physical examination every 3–4 months, including anthropometric measurements plotted on a growth curve (with particular attention to rapid acceleration in weight or height), signs of virilization (pubic hair, axillary moisture, adult body odor, androgenic hair loss, clitoromegaly, or penile growth) and full neurological assessment Prompt assessment with primary care physician for any medical concerns |
*Serial specimens obtained at the same time of day and processed in the same laboratory.