What is a Pediatric Cancer Predisposition Syndrome?

A pediatric cancer predisposition syndrome happens when an child is born with a genetic mutation that changes how a specific gene works. This gene, often called a tumor suppressor gene, cannot protect cells from becoming cancerous. This increases the overall risk for affected children to develop cancer or a number of benign tumors, especially at younger ages.

The Cancer Predisposition Program at the Aflac Cancer and Blood Disorders Center of Children's cares for patients who have this increased risk beginning at birth, though childhood and into adolescence.

Cancer predisposition syndromes cause 10% of all pediatric cancers. Diagnosing one of these syndromes leads to proactive and targeted surveillance of the patient and identification of other at-risk relatives.

Pediatric Cancer Predisposition Syndromes We Treat

The Cancer Predisposition Program at the Aflac Cancer and Blood Disorders Center treats children under the age of 21 who are at an increased risk of developing cancer due to a cancer predisposition syndrome.

Pediatric cancer predisposition syndromes

Some of the most common cancer predisposition syndromes found in children are:

How We Treat Cancer Predisposition Syndromes

Our goal is to provide individualized care and counseling to all patients and families affected by a cancer predisposition syndrome by harnessing the power of precision medicine and the most up-to-date research from the medical genetics and hematology/oncology community.

During a typical new patient appointment at our clinic, we provide:

  • Risk assessments for cancer predisposition syndromes (through collection of personal and family health history)
  • Genetic testing with pre- and posttest counseling (including education on implications of diagnosis for both patient and family members)
  • Comprehensive medical evaluations by a board-certified pediatric hematologist-oncologist
  • Personalized tumor surveillance options based on each family’s needs and the current guidelines
  • Research study enrollment (when appropriate)
  • Identification of clinical trials (when appropriate)

What should you bring to your child’s appointment at the Cancer Predisposition Program?

  • Any previous genetic testing results
  • Knowledge about the family history of cancer (in child, siblings, parents, aunts and uncles, and grandparents) including type(s) and age of diagnosis
  • Any questions or concerns regarding risk of cancer in child and/or family members

Building a pedigree

The cancer predisposition team will build a pedigree for your child or teen based on the family history and genetic testing information provided at the first appointment. A pedigree is a three-generational graphic representation of a family’s medical history and genetic relationships as it relates to cancer. A pedigree takes into account:

  • Who in the family has been diagnosed with cancer
  • At what age they were diagnosed
  • What type of cancer it was

Building a pedigree allows the cancer predisposition team to look for certain patterns, which helps them in their risk assessment. Certain patterns increase the likelihood of a cancer predisposition syndrome beyond the 10% baseline risk. These patterns include:

  • Cancer types
  • Age of diagnosis
  • Previous results from cancer screening (e.g., history of colon polyps)
  • Any previous lumps/bumps (e.g., thyroid nodules)
  • Side of the pedigree affected (maternal, paternal or both)

What is genetic counseling?

Genetic counseling helps patients understand how genetic conditions might affect them and their family members.

All new patients referred to the Cancer Predisposition Program will meet with one of our team’s genetic counselors. The genetic counselor will take a personal and family history, perform a risk assessment, describe the relevant cancer predisposition syndrome, recommend surveillance, and coordinate genetic testing, if applicable.

If the patient or a family member has had previous genetic testing, it is helpful to bring the report to the appointment.

About Our Cancer Predisposition Program

Our Cancer Predisposition Program provides a multidisciplinary approach by incorporating comprehensive, pediatric-focused genetic counseling and cutting-edge genetic tools to ensure the highest level of care for each patient and family.

Program highlights

  • U.S. News & World Report ranks us among the top pediatric cancer programs in the country.
  • We are one of the largest pediatric cancer predisposition programs in the Southeast and the only center in Georgia.
  • We provide services to more than 300 patients and family members who are at risk for developing cancer
  • We are No. 4 in Children's Oncology Group (COG) therapeutic clinical trial enrollment.

Dr. Porter Receives St. Baldrick's Consortium Research Grant

Christopher Porter, MD, received a $250K grant to create a Consortium for Childhood Cancer Predisposition focused on improving outcomes for those at the highest risk of cancer through better identification, early tumor detection, optimized psychosocial support and cancer prevention. The consortium will initially be comprised of seven institutions and led by individuals who have previously worked together to have significant impacts in this field. These individuals will engage syndrome-specific advocacy groups to accelerate patient-centered advances.

Getting a Referral

Patients must be referred to our Cancer Predisposition Program. The following are among the reasons for referral to the program:

  • The patient or a blood relative has a known cancer predisposition syndrome (e.g., Li-Fraumeni syndrome)
  • Tumor type is suggestive of a specific cancer predisposition syndrome (e.g., adrenocortical carcinoma, renal cell carcinoma or pleuropulmonary blastoma)
  • Tumor genetic testing is suggestive of cancer predisposition syndrome (e.g., TP53 mutation identified in osteosarcoma tissue biopsy)
  • Two or more malignancies found in one patient (e.g., patient diagnosed with rhabdomyosarcoma and a subsequent osteosarcoma)

For referring physicans

If you are a physician and you have questions regarding a referral for a patient to the Cancer Predisposition Program, please complete the steps outlined below:

How to refer?

Fax the following to our scheduling team:

  • Patient demographics sheet, including insurance information
  • Reason for referral (briefly summarize why patient needs to be seen at the Cancer Predisposition Program)
  • Any genetic testing records (either the patient’s or the parents’), as well as any history of cancer diagnosis (in patient, in patient’s siblings or in patient’s parents)
  • Referral contact:
    Cancer Predisposition Program scheduler
    Fax: 404-785-3760
    Phone: 404-785-3519

Who to refer

A pediatric patient with a known history or a family history of the following syndromes:

  • Li-Fraumeni syndrome
  • Familial adenomatous polyposis
  • Von Hippel Lindau syndrome
  • DICER1/PPB syndrome
  • Multiple endocrine neoplasia Type 1 and 2
  • Cowden syndrome
  • Peutz Jeghers syndrome
  • Juvenile polyposis syndrome
  • Rhabdoid tumor predisposition syndrome
  • Constitutional mismatch repair deficiency syndrome
  • Hereditary paraganglioma pheochromocytoma syndrome
  • Gorlin/NBCCS syndrome
If you are unsure if a referral is appropriate, email genetic counselor Bojana Pencheva, MMSc, CGC.

Patients with no syndromic diagnosis, but high risk

Use the selection tool below for indication for referral to pediatric cancer predisposition program or clinical genetics

  1. Family history of the child with cancer
    • Two or more malignancies at childhood age (less than 18 years of age)
    • A first degree relative (parent or sibling) with cancer under age 45
    • Two or more second-degree relatives with cancer under age 45 on same side of family
    • The parents of the child with cancer are related (consanguinity)
  2. A person with one or more of these tumors in childhood
    • Adrenocortical carcinoma
    • Atypical teratoid rhabdoid tumor (AT/RT)
    • Basal cell carcinoma
    • Cerebellar gangliocytoma (COLD syndrome)
    • Choroid plexus carcinoma
    • Cystic nephroma
    • Desmoid tumors
    • Endolymphatic sac tumors (VHL)
    • Gastrointestinal stromal tumors (GIST)
    • Gonadoblastoma
    • Hemangioblastoma
    • Hepatoblastoma
    • JMML
    • Low hypodiploid ALL
    • Malignant peripheral nerve sheath tumors
    • Medullary thyroid carcinoma
    • Medulloblastoma
    • Melanoma
    • Meningioma
    • Neuroblastoma
    • Optic glioma
    • Osteosarcoma
    • Ovarian Sertoli Leydig cell tumor
    • Small cell carcinoma of ovary
    • Pancreatic islet cell tumor
    • Paragangliomas/pheochromocytomas
    • Parathyroid carcinoma
    • Pleuropulmonary blastoma
    • Pituitary blastoma
    • Pineoblastoma
    • Plexiform neurofibroma (NF1)
    • Retinoblastoma
    • Rhabdomyosarcoma (anaplastic)
    • Rhabdoid tumors (especially renal and liver)
    • Renal cell carcinoma
    • Schwannoma
    • Spinal cord ependymoma
    • Subependymal giant cell tumor
    • Wilms tumor (bilateral only)
    • Or a cancer of adulthood: colorectal, ovarian, etc.
  3. A child with two malignancies, one of those with onset under the age of 18 (unless the second malignancy is consistent in time and/or tissue type with those expected from their treatment regimen)
  4. A child with cancer and congenital anomalies or other specific symptoms:
    • Congenital anomalies
    • Aberrant growth (large head circumference, hemihypeplasia)
    • Skin anomalies (café au lait spots, hypersensitivity to sunlight)
    Congenital anomalies, facial dysmorphisms and intellectual disability may warrant a referral to a clinical geneticist as initial workup.

Meet the Team

Our cancer predisposition team

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