Hereditary Cancer Predisposition Program Referrals
We welcome your requests for evaluation of children who have cancers with known hereditary links, genetic defects associated with cancer development, or children with family histories that place them at a higher risk for cancer development.
Common reasons to refer a patient to our program
A child and/or family may benefit from a referral to our program if they have:
- A cancer with a known hereditary basis in a subset of cases
- Retinoblastoma
- Adrenocortical carcinoma
- Choroid plexus carcinoma
- Sarcoma in a child under 3 years at diagnosis
- Paraganglioma
- Pheochromocytoma
- Hepatoblastoma
- Medullary thyroid cancer
- Medulloblastoma
- Syndromic features that suggest an underlying genetic defect associated with cancer development, such as:
- Wilms' tumor aniridia genitourinary malformation retardation [WAGR] syndrome
- Beckwith-Wiedemann syndrome/idiopathic hemihypertrophy
- 13q deletion syndrome
- PTEN hamartoma tumor syndrome
- Multiple endocrine neoplasia (MEN), type 2B
- Nevoid basal cell carcinoma syndrome
- A positive family cancer history that includes any of the following:
- Two first-degree relatives (parent, child, sibling) with cancer
- More than one child with cancer
- Three or more relatives with the same type of cancer (on the same side of the family)
- Earlier than expected age of cancer onset
- Bilateral or multifocal cancers
- Multiple primary tumors
- Evidence for autosomal dominant transmission (individuals with cancer in successive generations on the same side of the family)
- Constellation of tumors consistent with a particular familial syndrome:
- Li-Fraumeni syndrome: breast cancer, soft-tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumors, acute leukemias
- Multiple Endocrine Neoplasia Type 1: parathyroid tumors, pituitary tumors, carcinoid tumors, adrenocortical tumors, tumors of the gastro-entero-pancreatic tract
- Multiple Endocrine Neoplasia Type 2: medullary cancer of the thyroid, pheochromocytomas, other abnormal growths of endocrine tissues
- Hereditary Paraganglioma-Pheochromocytoma syndrome: paragangliomas and/or pheochromocytomas
- Von-Hippel Lindau syndrome: pheochromocytomas, clear-cell renal carcinomas, adenomas and carcinomas of the pancreas, paragangliomas, renal and pancreatic cysts, papillary cystadenomas of the epididymis and, rarely, cystadenomas of the endolymphatic sac and broad ligament
- A deletion of a tumor suppressor gene based on cytogenetic analysis
- A family member with a heritable genetic defect, so other family members might also carry the same gene defect
How to request an evaluation
To request a referral, please contact Kristin Zelley, MS, genetic counselor, at 267-426-5877 or send an e-mail to zelleyk@email.chop.edu.
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