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
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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.