Table 2.

Suggested signs and symptoms and imaging surveillance by system for individuals with DICER1 pathogenic variants

System	Signs/Symptoms to consider	Condition of interest	Screening, Clinical and Radiographic
Lung	Tachypnea, cough, fever, and pain; pneumothorax	- PPB - Lung cysts -Pulmonary  blastoma	CXR at birth and every 4– 6 months until 8 years of age, every 12 months 8 −12 years of age; consider a CT of chest at 3 − 6 months of age.* Toddlers: if initial CT normal: repeat between 2−1/2 and 3 years of age.* If mutation detected at > 12 years of age, consider baseline CXR or chest CT.
Thyroid	Visible or palpable thyroid nodule(s) Persistent cervical lymphadenopathy Hoarseness Dysphagia Neck pain Cough	− Multinodular goiter; − Differentiated   thyroid cancer	Baseline thyroid US by 8 years of age then every 3 years or with symptoms/findings on physical exam. With anticipated chemotherapy or radiation therapy: baseline US and then annually for 5 years, decreasing to every 2 to 3 years if no nodules are detected
Female reproductive tract	Hirsutism Virilization Abdominal distension, pain or mass	− SLCT − Gynandroblastoma − Cervical embryonal  rhabdomyosarcoma	For females beginning at 8 – 10 years of age: pelvic and abdominal US every 6−12 months at least until age 40. End of interval is undetermined but current oldest patient with DICER1− associated SLCT was 61 years of age. Education regarding symptoms strongly recommended.
Renal	Abdominal or flank mass and/or pain, hematuria	− Wilms tumor − Renal sarcoma − Cystic nephroma	Abdominal US every 6 months until 8 years of age then every 12 months until 12 years of age. If mutation detected at > 12 years of age, consider baseline abdominal US
Gastrointestinal	Signs of intestinal obstruction	− Small intestine  polyps	Education regarding symptoms recommended.
Central nervous system And head and neck (excluding thyroid)	Headache, emesis, diplopia, decreased ability for upward gaze, altered gait (pineoblastoma); Precocious puberty; Cushing’s syndrome (pituitary blastoma); Decreased visual acuity and leukocoria (CBME); Nasal obstruction (NCMH)	− Macrocephaly − Pineoblastoma − Pituitary blastoma − CBME − NCMH	Physical exam. Annual routine dilated ophthalmologic exam (generally unsedated) with visual acuity screening from 3 years of age through at least 10 years of age. Further testing if clinically indicated. Recommend urgent MRI for any symptoms of intracranial pathology.

Key: PPB = pleuropulmonary blastoma; CXR = chest x−ray; CT = computed tomography; US = ultrasound; SLCT = Sertoli−Leydig cell tumor; CBME = ciliary body medulloepithelioma; NCMH = nasal chondromesenchymal hamartoma.

^*When CT is performed, techniques to minimize radiation exposure should be employed. As novel magnetic resonance imaging (MRI) techniques are developed that will eventually allow detection of small cystic lesions, transition to non−radiation containing cross sectional imaging should be considered.