NF 1

Question 1

Main intracranial Glioma with NF1

Answer 1

Pilocytic astrocytoma ( optic Glioma )

Question 2

Pathonemonic for NF1

Answer 2

plexiform neurofibromas:

Question 3

Malignant tumor with increase frequency in NF1

Answer 3

neuroblastoma,
ganglioglioma,
sarcoma,
leukemia, Wilm’s tumor,
breast cancer7

Question 4

Associated condition with NF1

Answer 4

1-Schwann-cell tumors on any nerve
2- neurofibroma spinal/peripheral or skin
3- aqueductal stenosis
4- macrocephaly and HC
5-intracranial tumors
6- superior orbit defect > pulsatile exophthalmos
7-cognitive impairment
8- kyphoscoliosis
9- neuronal hyperplasia within submucosa
10 -plexiform neurofibromas ⭐️
11-syringomyelia 🌑
12- pheochromocytoma
13 -unidentified bright objects” (UBOs) mri

Question 5

Gen with NF1

Answer 5

17 q 11.2 > neurofibromin
Loss of gen > growth promotion signals

Question 6

Risk of malignant transformation of of plexiform neurofibromas to MPNST

Answer 6

10 %

Question 7

When do family counseling

Answer 7

2 > affected in family

Question 8

Diagnostic Critria for NF1

Answer 8

Question 9

Optic Glioma in NF1

Answer 9

Non progressive
Surgery no alter visual impatient ( non chiasmatic)

Question 10

MEK inhibitors approved

Answer 10

Age 2-18 symptomatic

inoperable plexiform neurofibromas,

Question 11

F/u NF1

Answer 11

Annual exam
Optha exam fro children
Devlopmental assesment in children
BP monitoring
MRI f/u
Mammogram at age 30 in fetal and mri breast in women at age 30-50

Question 12

MCC gen in PCA

Answer 12

BRAF gen

Question 13

Why PCA common NF1

Answer 13

NF1 patients have only 1 NF1 wildtype gene copy.➡️🚫 Loss of this copy by a “second hit” ➡️ point mutation, LOH, or DNA hypermethylation➡️ net 🚨 overactivation of RAS and MAPK pathway