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Childhood Cancer & Prevention Clinic

Tulane Cancer Center Comprehensive Clinic > Cancer & Treatment > Childhood Cancer & Prevention Clinic

 

Education

Neurofibromatosis Type 1 (NF1)

Neurofibromatosis Type 2 (NF2)

Beckwith-Wiedemann Sydrome

Familial Adenomatous Polyposis

PTEN hamartoma syndromes (e.g. Cowden Syndrome)

WAGR syndrome

Li-Fraumeni Syndrome Hereditary

Von-Hippel-Lindau Syndrome (VHL)

Paraganglioma-Pheochromocytoma Syndrome

Rhabdoid Predisposition Syndrome

Biallelic Mismatch Repair Gene Mutations

Multiple Endocrine Neoplasia Type 2 (MEN2)

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 additional 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

  • 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 additional 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 additional 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 additional questions, or to schedule an appointment, please call: (504) 342 0253

Rhabdoid Tumor Predisposition Syndrome (RTPS)

  • 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 additional questions, or to schedule an appointment, please call: (504) 342 0253

Biallelic Mismatch Repair Gene Syndrome

  • 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 additional 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

 

 

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