By: Matt Murray

Neurofibromatosis (NF)

One of the most common single gene disorders , with an incidence of around 1 in 3000

(NF) cancer cells can attack all parts of the body because of the location in the nervous system.

www.youtube.com/watch?v=gy-QHs9q3z8&NR=1tp://

(NF)

Friedrich Daniel von Recklinghausen, a German pathologist and professor in Strassburg, first recognized(NF) type 1

1882- Recklinghausen characterized the tumors of (NF) type 1 as neurofibromas

(NF) type 1 also called (von Recklinghausen disease)

History of (NF) type 1 and 2

1822-, Wishart, a Scottish surgeon, published the first -description of a deaf and blind boy with multiple tumors of the cranial nerves.

which has been recognized as the principal form (NF) type 2

(NF) type 2 also called MISME syndrome

History continued…

Until 1987 these two similar but different diseases were grouped apart.

1987- the National Institutes of Health (NIH) Consensus Development Conference defined these 2 diseases as 2 distinct types of (NF)

(NF1), or von Recklinghausen disease, which affects 90% of patients,

(NF2), or MISME syndrome, which affects 10% of patients

History continued…

(NF) type 1 and 2 are Autosomal Dominant

(NF) can appear in any sex.

Successive generations can be effected

Transmission stops after a generation in which no one is affected.

Pedigree of (NF)

Pedigree of (NF)

The responsible gene is located on the long arm of chromosome 17

The 17th chromosome is responsible for the protein Neurofibromin, which when mutant causes (NF) type 1

Neurofibromin – protein that normally suppresses activity of a gene that causes cell division.

(NF)type 1

Because of this mutation cells divide when it is inappropriate. In (NF) the cells are cancer cells.

Neurofibroma -a benign tumor in the peripheral nervous system.

Arise from the cells that form and support the nerve sheath.

Average age of death is in the late 50’s

(NF) type 1

Neurofibroma

Café-au-lait patches (6 or more) and larger than 5mm in diameter.

Freckling in the arm pit/groin region

optic glioma

bone defects

Visual skin neurofibroma(small, rubbery skin lesions) can be a couple hundred to thousands.

(NF) type 1 symptoms/ diagnosis

(NF)type1 symptoms

The responsible gene is on the long arm of the 22nd chromosome.

The 22nd chromosome is responsible for the protein merlin

Merlin - protein that is a tumor suppressor.

(NF) type 2

The type of cancer cells (MISME syndrome)

Multiple Inherited Schwannomas

Meningiomas

Ependymomas

(NF)2 –all benign tumors in the cranial and spinal region.

(NF) type 2

Survival is reduced in (NF)2

Average age of death is around 32 years

50% of (NF)2 cases are new mutations

(NF) type 2

Café-au-lait patches and peripheral neurofibromas can occur just like in (NF)1

Bilateral Schwannomas ( Cranial Nerve [CN] VIII) masses seen with appropriate imaging techniques ( computed tomography [CT] or magnetic resonance imaging [MRI])

Meningiomas

Ependymomas

(NF) type 2 symptoms/ diagnosis

(NF)type 2 -location of cancer cells

(NF) type 2

Neurofibroma

Congenital bowing of tibia and fibula due to pseudarthrosis

Optic glioma

Scoliosis

Epilepsy

(NF) complications

Hypertension

Nerve root compression by spinal neurofibromas

Benign cancers can turn Malignant

Learning disability

(NF) complications continued…

There is no cure for (NF)type 1 or type 2

Surgery to remove the tumors is the only treatment.

Depending on location of the tumor and treating it in a timely matter before the growth becomes to large and inoperable.

If (NF) is found in childhood , the child should be seen every 6 months to be monitored.

Treatment