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Pediatric Cancer Predisposition Clinic
My child has cancer. Why might they be seen in the Pediatric Cancer Predisposition Clinic?
At the Pediatric Cancer Predisposition Clinic, we specialize in the diagnosis and management of children and young adults with inherited cancer predisposition syndromes (CPS). Children with a CPS have an increased risk for developing certain cancers. About 10%–15% of all pediatric cancers are related to cancer predisposition syndrome. About 50% of these patients do not have a family history of cancer. A CPS diagnosis can influence a patient’s cancer prevention, surveillance and treatment. In addition, this information may be important to relatives.
At the Pediatric Cancer Predisposition Clinic, we see patients who have a wide range of cancerous and noncancerous tumors, including, but not limited to:
- Adrenocortical carcinoma
- Atypical teratoid rhabdoid tumor (ATRT) and malignant rhabdoid tumors (MRT)
- Brain cancer (including high grade glioma, subependymal giant cell astrocytoma (SEGA), and choroid plexus carcinoma, meningioma, medulloblastoma)
- Cardiac rhabdomyoma
- Cystic nephroma
- Gastrointestinal stromal tumor (GIST)
- Kidney cancer (including Wilms tumor)
- Leukemias (including hypodiploid pre-B ALL, AML, JMML, and myelodysplastic syndrome)
- Multi-nodular goiter
- Ovarian cancer (including small cell carcinoma of the ovary, stromal tumors and Sertoli-Leydig cell tumor)
- Pancreatic cancer
- Parathyroid carcinoma
- Pituitary blastoma
- Pleuropulmonary blastoma
- Retinal hemangioblastoma
- Retinoblastoma /pineoblastoma
- Skin cancer (melanoma, squamous cell carcinoma, basal cell carcinoma)
- Testicular cancer (including large cell calcifying Sertoli-Leydig cell tumor)
- Thyroid cancer
- Urothelial cell carcinoma
In the Pediatric Cancer Predisposition Clinic, we see patients with pediatric cancer along with other health issues and/or a family history of cancer, including:
- More than one cancer
- Distinctive facial features
- Developmental delays, atypical behaviors, learning problems or intellectual disability
- Abnormal growth (large/small head, very large or small size, asymmetric growth)
- Birth defects (such as cleft palate, heart defect, abnormal hearing/vision, birthmarks or vascular lesions)
- Abnormal blood counts and/or immune system issues
- Tumor testing suggestive of an inherited defect
- Family history of the same or related cancers
We also see patients with these specific cancer predisposition syndromes that include pediatric-onset cancers:
- Birt-Hogg-Dube syndrome
- Carney complex
- Constitutional mismatch repair deficiency syndrome
- Diamond-Blackfan anemia
- DICER1 syndrome
- Fanconi anemia
- Hereditary leukemia (including inherited bone marrow failure disorders)
- Hereditary melanoma
- Hereditary neuroblastoma
- Hereditary paraganglioma-pheochromocytoma syndrome
- Hereditary retinoblastoma
- Li-Fraumeni syndrome
- Multiple endocrine neoplasia
- Nevoid basal cell carcinoma syndrome (Gorlin syndrome)
- Rhabdoid tumor predisposition syndrome
- Shwachman-Diamond syndrome
- Tuberous sclerosis complex
- Von Hippel-Lindau syndrome
- WT1-Related Wilms tumor syndromes
If you believe your child’s personal or family history of cancer is concerning, or if you would like to learn more about genetic counseling and testing in general, ask your oncology team about making a referral for genetic counseling. You can contact us directly at 410-955-3071.
Our team consists of geneticists and genetic counselors who have expertise in pediatric cancer predisposition syndromes, as well as a clinic coordinator. To ensure timely and accurate diagnosis, we work to have patients scheduled as soon as possible. We work closely with the pediatric oncology team; when patients need inpatient hospital care, we may consult with the oncology teams who are managing their care.
Christy Smith, Sc.M., C.G.C.
Christy Smith is a board certified genetic counselor at the Johns Hopkins Department of Genetic Medicine in Baltimore, MD since 2016. She sees pediatric and adult patients, with a special interest in those with inherited forms of neuromuscular disease, retinal disorders, and pediatric cancers. Prior to coming to Johns Hopkins, she worked at Greater Baltimore Medical Center (GBMC) seeing patients with Ehlers-Danlos syndrome and also adults for cancer risk assessment. She received her Masters of Science degree in Genetic Counseling from the Johns Hopkins/National Human Genome Research Institute (NHGRI) genetic counseling program in 2011. In addition to her clinical work, she is an active member of the National Society of Genetic Counselors, the Maryland DC Society of Genetic Counselors, as well as a diplomate and member of the American Board of Genetic Counseling. She also teaches and supervises genetic counseling students, fellows, residents, medical students, and undergraduate students in the field of genetic counseling.
Dana Goins, Clinic Manager