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Hamartoma Tumor syndrome


Gene Reviews

PTEN Hamartoma Tumor Syndrome is a group of conditions caused by a mutation in the PTEN gene. The primary characteristic of the condition is the development of multiple hamartomas (tumor-like growth) in virtually any part of the body. The growths are generally not cancerous but patients often have an increased risk of developing various cancers. Other symptoms include mucosal lesions, large head, skin tags and papules, developmental delay, autism, lipomas, fibromas,  genitourinary malformations, intestinal polyps and uterine fibroids.

The PTEN gene acts as a tumor suppressor. A mutation of this gene can predispose a patient to cancer. Frequent genetic inactivation of PTEN occurs in glioblastoma, endometrial cancer, and prostrate cancer. A mutation of PTEN can also lead to vascular anomalies such as arteriovenuous malformation or haemangioma.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Codes Q85.8 hamartomas/Q99.9

Test Requisition: Sequencing Requisition

CPT Code: 81321 full gene sequence Cost: $880.00

CPT Code: 81322 know familial variant Cost: $396.00

Turn-around-time: 3-4 weeks

Specimen Requirements

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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