Neurofibromatosis

Question 1

What cancer does neurofibromatosis cause and are they being or malignant

Answer 1

Neuroma

Benign

Question 2

Neurofibromatosis type 1 is found on what chromosome

Answer 2

17

Question 3

What type of mutation is type 1 neurofibromatosis?

Answer 3

Autosomal dominant

Question 4

What features of neurofibromatosis type 1 are needed to make a diagnosis and how many are needed? (7)

Answer 4

CRABBING

C-Cafe-au-lait spots (6 or more)
R-Relative with NF1
A-Axillary or inguinal freckles
BB-Bony dysplasia such as Bowing of a long bone or sphenoid wing dysplasia
I-Iris hamartomas (Lisch nodules) yellow or brown spots on iris
N-Neurofibromas (2 or more)
G-Glioma of the optic nerve

2 or more for diagnosis

Question 5

3 important complications of neurofibromatosis type 1

Answer 5

Renal artery stenosis causing hypertension

Malignant peripheral nerve sheath tumours

Gastrointestinal stromal tumour

Question 6

What cancer TYPE does neurofibromatosis type 2 cause

Answer 6

Schwannoma

Question 7

Neurofibromatosis type 2 can cause what specific cancer in what distribution

Answer 7

Bilateral acoustic neuromas