Table 1.

Summary of the surveillance protocol for tumour screening/identification in individuals with Neurofibromatosis type 1.

Tumour	Surveillance	Interval	From age (years)/indication	Strengtha	Reference to table in article
Optic pathway glioma	Clinical assessment:1. Visual assessment2. Fundoscopy3. Visual fields4. Optic coherence tomography	1-3: At least yearly 4: When feasible	0–8	1. Strong2. Strong3. Moderate4. Moderate	Table 3
Optic pathway glioma	Visual screening	Yearly	8 – transition adolescence to adult	Moderate	Table 3
Brain or spine glioma	Patient history/Examination signs of brain tumours	Every visit	All ages	Moderate	Table 4 for children and Table 5 for adults
Cutaneous neurofibroma	Clinical examination	Every visit	All ages	Strong	Table 6
Plexiform neurofibroma	Clinical examination	Every visit	All ages	Moderate	Table 7
Plexiform neurofibroma	Whole-body MRI	Once	Transition adolescence- adult	Weak	Table 7
Orbital & Periorbital Plexiform neurofibroma	Clinical assessment, refraction error, vision fields, ocular motility	Every visit	All ages	Strong	Table 8
Malignant peripheral nerve sheath tumour + Atypical neurofibromateous neoplasm of uncertain biologic potential	Clinical examination + history taking	Every visit	All ages	Strong	Table 9
Malignant peripheral nerve sheath tumour + Atypical neurofibromateous neoplasm of uncertain biologic potential	Regional MRI combined with 18FDG PET MRI or 18FDG PET CT	On indication	Suspicion for malignancy	Moderate	Table 9
Juvenile myelomonocytic leukaemia	As part of normal clinical routine: patient history and physical examination	Every visit	<12	Moderate	Table 10
Breast cancer	MRI or mammography being second best alternative when MRI is not available	Yearly	30–50	Moderate	Table 11
Breast cancer	Breast screening per national guideline for the general population	Breast screening per national guideline for the general population	>50	Moderate	Table 11
Phaeochromocytoma and paraganglioma	Biochemical screening	On indication	Raised blood pressure	Moderate	Table 12
Phaeochromocytoma and paraganglioma	Biochemical screening	On indication	Pregnant women and consider if elective surgery requiring general anaesthesia	Weak	Table 12
Glomus tumours of the digits	Screening for symptoms and visual inspection	Every visit	All ages, clinical suspicion	Moderate (Age, weak)	Table 13
Gastrointestinal stromal tumour	Clinical examination + history taking	Every visit	Adolescence and adults	Moderate	Table 14
Gastrointestinal stromal tumour	Abdominal MRI or CT	On indication	Clinical suspicion of presence based on symptoms	Moderate	Table 14
Psychosocial needs	Psychosocial wellbeing and neuropsychological functioning	Every visit	All ages	Weak	Table 15

Note. MRI = magnetic resonance imaging; ¹⁸FDG PET MRI = 18F-fluorodeoxyglucose positron emission tomography magnetic resonance imaging; ¹⁸FDG PET CT = 18F-fluorodeoxyglucose positron emission tomography computed tomography; CT = computed tomography.

^a

To balance the weight of both published evidence and quantify the wealth of expert experience and knowledge, ERN GENTURIS uses the following scale to grade the recommendation:

Strength	Grading of recommendation
Strong	Expert consensus AND consistent evidence
Moderate	Expert consensus WITH inconsistent evidence AND/OR new evidence likely to support the recommendation
Weak	Expert majority decision WITHOUT consistent evidence

Expert consensus (an opinion or position reached by a group as whole) or expert majority decision (an opinion or position reached by the majority of the group) is established after reviewing the results of the modified Delphi approach within the Core Working Group.