Hamartoma Tumor syndrome


Gene Reviews

PTEN Hamartoma Tumor Syndrome (PHTS) is a group of conditions caused by a mutation in the PTEN gene. This includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-Like syndromes and VACTERL Association. Each disorder has its own list of unique features, but there are common characteristics such as macrocephaly, harartomatous overgrowth and vascular malformations. A clinical diagnosis of PHTS can be made based on clinical symptoms, but a definitive diagnosis requires the identification of a heterozygous PTEN mutation. Patients with a germline mutation in PTEN have a 5-10 fold higher chance of developing cancer at a much earlier age (<30 y/o) than the general population. In addition to confirming the diagnosis of PHTS, testing patients for a germline PTEN mutation is essential to accurately assess their risk for cancer and to make appropriate recommendations regarding prevention and treatment of malignancy.

PTEN Hamartoma Tumor Syndrome inherited in an autosomal dominant manner, and PTEN is the only known gene to be associated with the disease. In addition to PHTS, germline mutations in PTEN have been identified in 16% of patients with Autism Spectrum Disorders (ASD) and macrocephaly, 12.5% of patients with adenomatous and hyperplastic polyps. To date, ~230 mutations have been reported for the PTEN gene, and ~95% can be detected by DNA sequencing.

Purpose: Confirmation of Clinical Diagnosis

Methodology: Sequencing of entire coding region

Test Requisition: Sequencing Requisition

Specimen Requirements: 2-5 mL Blood- Lavender Top Tube

CPT Code: 81321 full gene sequence Cost: $500.00

Turn-around-time: 4 weeks

Shipping Information


1. Bonneau, D., Longy, M. (2000) “Mutations of the human PTEN gene”. Hum. Mutat. 16: 109-122.

2. Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M. Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., Eng, C. (2005) “Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations”. J. Med. Genet. 42: 318-321.

3. De Vivo, I., Gertig, D. M., Nagase, S., Hankinson, S. E., O'Brien, R., Speizer, F. E., Parsons, R., Hunter, D. J. (2000) “Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers”. J. Med. Genet. 37: 336-341.

4. Eng, C. (2003) PTEN: one gene, many syndromes”. Hum. Mutat. 22: 183-198.


Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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