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Tulane Doctors - Comprehensive Cancer Center ~ Patient Education

 

Neurofibromatosis Type 1 (NF1)

  • NF1 is a disease caused by a mutation in a gene.
  • It can be inherited from your parents or be a new mutation in your genome.
  • If you have the disease, your children a 50% chance of also having NF1.
  • The symptoms can be different between patients even though they have the same disease.
  • Common symptoms include:
    • Multiple café au lait spots (large, light brown birthmarks on the skin)
    • Freckles in the groin and armpits
    • Small growths on the skin called neurofibromas
    • Non-cancerous growths in your eye called Lisch nodules
  • Less common symptoms include:
    • Tumors of the optic nerve
    • Tumors of the brain, spine and nerves
    • A curved spine(scoliosis)
    • Bowing of the bones in the leg
    • Damaged blood vessels
  • Approximately 10% of patients will develop cancerous neurofibromas.
  • Neurofibromas can be removed for both cosmetic and medical reasons.
  • Optic nerve, brain, spine and nerve tumors, if they develop, usually develop before age 5.
  • Patients under age 8 should be screened for optic nerve tumors every year, and every two years until age 18
  • Patients are at increased risk for other cancers including breast cancer, leukemia, adrenal tumors and gastrointestinal tumors.

For questions, or to schedule an appointment, please call: 504-342-0253

Neurofibromatosis Type 2 (NF2)

  • NF2 is caused be a mutation in a gene.
  • The mutation can be inherited from your parents or be a new mutation.
  • If you have NF2, your children have a 50% chance of also having NF2.
  • The most common symptom is a non-cancerous tumor in the nerves responsible for hearing (vestibular schwannoma).
  • NF2 patients should have a brain MRI once a year starting at age 10 to check for vestibular schwannomas.
  • Vestibular schwannomas are usually removed surgically, but there are non-surgical options.
  • Vestibular schwannomas can cause hearing loss, ringing in the ear and can alter balance.
  • Patients should also have hearing evaluations every year beginning at diagnosis.
  • There are surgical and non-surgical options to treat hearing loss.
  • Other symptoms include tumors on the spinal cord, eyes, and of the membranes that cover nerves.
  • Patients should have an MRI of the spine when they are diagnosed.
  • The tumors of the spine, eyes, and nerve membranes tend to grow slowly and are managed based on severity.

For questions, or to schedule an appointment, please call: 504-342-0253

Beckwith-Wiedemann Syndrome (BWS)

  • Scientists believe BWS is caused by a mutation in a gene, but its exact cause is unknown.
  • In BWS, the molecules that bind to DNA to make proteins are faulty, causing the genes to be expressed incorrectly.
  • Only 15% of patients with BWS have affected family members.
  • Patients with BWS are usually born with:
    • Large birth weight
    • Overgrowth on one side of the body (hemihypertrophy)
    • An enlarged tongue
    • Low blood sugar
    • Enlarged abdominal organs (kidneys, liver or pancreas)
    • Defects in the abdominal wall
  • As patients age, symptoms include:
    • Children can develop a type of kidney cancer known as a Wilms tumor.
    • Children are also at risk to develop liver cancer
    • Low blood sugar
    • Low thyroid activity
    • High levels of fat, cholesterol and calcium in the blood
  • In order to detect a Wilms tumor, patients should have an abdominal ultrasound every 3 months beginning at age 8.
  • In order to detect liver cancer in children, a blood test measuring alpha-feto protein should be performed every 3 months beginning at age 4.
  • Patients should discuss how to best treat these cancers with their oncologist.

For questions, or to schedule an appointment, please call: 504-342-0253

Familial Adenomatous Polyposis (FAP)

  • FAP is caused by a mutation in a gene.
  • If you have FAP, there is a 50% chance that your children will also have FAP.
  • Patients with FAP develop polyps in the colon and rectum between the ages of 7 and 35.
  • Once they appear, polyps can grow rather quickly so proper surveillance is important.
  • Colon cancer develops in 100% of patients.
  • In addition, patients are at increased risk for cancers of the small bowel, pancreas, thyroid, stomach and liver.
  • Patients should have an abdominal ultrasound and a blood alpha fetoprotein test every three months beginning at age 4.
  • Patients should have colonoscopies yearly beginning at age 10 to screen for colon cancer.
  • In order to screen for thyroid cancer, patients should have a thyroid ultrasound every year beginning at age 16.
  • Treatment for colon cancer is surgical removal of the affected colon.
  • Treatment for thyroid cancer is usually surgical removal of the thyroid.

For questions, or to schedule an appointment, please call: 504-342-0253

PTEN Hamartoma/Cowden Syndrome

  • PTEN is caused by a mutation in a gene.
  • If you have PTEN, there is a 50% chance that your children will also have PTEN
  • Patients with PTEN are at increased risk for:
    • Tumors of the thyroid
    • Breast cancer
    • Uterine lining tumors (females only)
  • Other symptoms include:
    • Enlarged head (macrocephaly)
    • Benign bumps on the skin
  • Beginning at diagnosis, patients should have thyroid ultrasounds yearly in order to detect cancers early.
  • Treatment for these cancers is usually surgical removal.
  • Patients should discuss how to best follow up on their increased risk of breast cancer with their oncologist.

For questions, or to schedule an appointment, please call: 504-342-0253

WAGR Syndrome

  • WAGR is an association of symptoms: Wilms tumor, aniridia, genitourinary anomalies, and intellectual impairment
  • WAGR is caused by a mutation in a gene.
  • Most patients with WAGR have a new mutation; it was not inherited from a parent.
  • If you have WAGR, you have a 50% chance of passing it to your children.
  • Approximately 50% of WAGR patients develop Wilms tumor, a childhood kidney cancer
  • Patients are at risk of behavioral disabilities such as autism spectrum disorders, ADHD and depression.
  • Other symptoms include:
    • Underdevelopment of the colored area around the eye (iris)
    • Uncontrolled eye movements
    • Possible development of cataracts and glaucoma
    • Obesity
  • In order to detect Wilms tumor in children, patients should have an abdominal ultrasound every 3 months beginning at 8 years old.
  • Treatment for Wilms tumor is usually removal of the kidney with a transplant, but all treatments should be discussed with your physician.

For questions, or to schedule an appointment, please call: 504-342-0253

Li-Fraumeni Syndrome

  • Li-Fraumeni is caused by a mutation in a gene.
  • If you have Li-Fraumeni, there is a 50% chance that your children will also have the disease.
  • Patients with Li-Fraumeni have a predisposition to develop many types of cancer:
    • Bones and joints, muscles, and nerves
    • Breast
    • Brain
    • Adrenal gland, thyroid, and lymph nodes
    • Lung
    • Stomach, colon, pancreas, esophagus
    • Sex cells
  • Proper surveillance for these cancers begins at diagnosis. Tests include:
    • Abdominal and pelvic ultrasound every 3-4 months
    • Urinalysis every 3-4 months
    • Blood tests to test for cancers of the sex cells every 3-4 months
    • Screening of steroid levels every 3-4 months
    • A yearly brain MRI
    • A yearly whole body MRI
  • Treatment for these cancers depends on the age of the patient and severity of the cancer.
  • Patients should avoid known carcinogens:
    • Sun exposure
    • Tobacco use
    • Excessive alcohol consumption
    • Radiation, such as X-rays

For questions, or to schedule an appointment, please call: 504-342-0253

Von-Hippel-Lindau Syndrome (VHL)

  • VHL is caused by a mutation in a gene.
  • If you have VHL, there is a 50% chance that your children will also have the disease.
  • Most patients inherit the disease from a family member, while ~20% of patients have a new mutation.
  • VHL is characterized by cancers of the:
    • Brain and spinal cord
    • Retina
    • Kidney and adrenal gland
    • Pancreas
  • Some symptoms include:
    • Headache
    • Vomiting
    • Changes in gait
    • Lack of control over movements (ataxia)
  • In order to detect these cancers early, patients should have:
    • Yearly eye and audiology exams beginning at age 1
    • A blood exam every year beginning at age 2
    • An ultrasound every year from birth
    • An abdominal MRI every year beginning at age 8
    • A brain and spine MRI every other year beginning at age 16
  • Treatment for these cancers depends on the age of the patient and severity of the cancer, and should be discussed with your physician.
  • Patients should avoid tobacco smoke.
  • Patients should avoid contact sports if they have adrenal or pancreatic lesions.

For questions, or to schedule an appointment, please call: 504-342-0253

Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)

  • PGL/PCC is caused by a mutation in a gene.
  • If you have PGL/PCC, there is a 50% chance that you will pass the disease-causing mutation to your child.
  • Patients with PGL/PCC have a predisposition to develop these types of cancer:
    • Head or neck
    • Abdomen
    • Adrenal glands
  • Some symptoms associated with certain head and neck tumors are:
    • Headache
    • Heart palpitations
    • High blood pressure
    • Sweating
    • Mood changes
  • Beginning at diagnosis, blood tests need to be performed yearly to look for cancers.
  • Patients should also have a whole body MRI every other year.
  • Treatment for these cancers is usually surgical removal of the affected area.

For questions, or to schedule an appointment, please call: 504-342-0253

Rhabdoid Tumor Predisposition Syndrome

  • RTPS is caused by a mutation in a gene.
  • If you have RTPS, there is a 50% chance that you will pass the disease to your child.
  • Patients with RTPS have a predisposition to develop rhabdoid tumors, fast-growing tumors that develop in the brain, spine and kidneys.
  • Some symptoms associated with rhabdoid tumors are:
    • Headache in the morning
    • A headache that goes away after vomiting
    • Nausea and vomiting
    • Unusual sleepiness or a change in activity level
    • Loss of balance or coordination
    • Trouble walking
  • When patients are younger than 1 year, patients should have a head ultrasound every month and an abdominal ultrasound every three months.
  • Between the ages of 1 and 4, patients should have an abdominal ultrasound and a brain and spine MRI every six months.
  • Treatment for these cancers includes surgery, radiation and chemotherapy.

For questions, or to schedule an appointment, please call: 504-342-0253

Biallelic Mismatch Repair Gene Mutations

  • Biallelic mismatch repair gene syndrome is caused by a mutation in a gene.
  • If you have biallelic mismatch repair gene syndrome, there is a 50% chance that you will pass the disease to your child.
  • Patients with biallelic mismatch repair gene syndrome have a predisposition to develop certain cancers:
    • Colon
    • The lining of the uterus (endometrium)
    • Ovary
    • Stomach
    • Small intestine
    • Urinary tract
    • Brain
    • Skin
  • Patients diagnosed under 1 year of age should have a head ultrasound.
  • Once patients turn 2, they should have a brain MRI every six months.
  • Patients should have a colonoscopy, upper endoscopy, and a video capsule endoscopy every year once they turn 10.
  • Treatment for these cancers includes surgery, radiation and chemotherapy and should be discussed with your physician.
  • Patients should avoid tobacco smoke, as it increases the chances of developing cancer.

For questions, or to schedule an appointment, please call: 504-342-0253

Multiple Endocrine Neoplasia Type 2 (MEN2)

  • MEN2 is caused by a mutation in a gene.
  • The mutation can be inherited from your parents or be a new mutation in your genome.
  • If you have MEN2, you have a 50% chance of passing it to your children.
  • There are three subtypes of MEN2: MEN2A, MEN2B and Familial Medullary Thyroid Cancer (FMTC).
  • All three types of MEN2 increase the risk of developing adrenal and thyroid tumors.
  • Additional potential symptoms by subtype include:
    • MEN2A: parathyroid cancers
    • MEN2B: cancers of the lips, tongue, stomach and intestines
  • In order to detect cancer in MEN2, lab tests (serum catecholamines and metanephrines) should be performed every year beginning at age 8.
  • Treatment for adrenal, thyroid and parathyroid cancers is surgical removal of the tumor and affected lymph nodes.
  • Parathyroid cancer is also treated by surgical removal of the parathyroid glands.
  • Prophylactic removal of the thyroid is a potential therapy and should be discussed with your physician.
For questions, or to schedule an appointment, please call: 504-342-0253