PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome

The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This group of disorders shares significant clinical overlap. CS is characterized by increased risk for both benign and malignant tumors of the breast, thyroid, and endometrium. Affected individuals have macrocephaly and almost all will develop the pathognomonic mucocutaneous lesions by the third decade of life, including trichilemmomas, papillomatous papules, and acral and plantar keratoses. Affected females also have a high rate of benign breast disease. Hamartomatous polyposis of the GI tract can be observed, but is rarely symptomatic. BRRS is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and enlargement and spotty pigmentation of the glans penis. Other common features may include: high birth weight, mild to severe mental retardation with delayed motor and speech development, proximal muscle weakness, joint hyperextensibility, macrodactyly, pectus excavatum, and scoliosis. Hamartomatous GI polyps are observed in ~45% of affected individuals. The cancer risks in patients with BRRS who harbor PTEN gene mutations are thought to be similar to that of individuals with CS. PS/PS-like (PSL) is an extremely rare congenital disorder with generalized, unilateral, or localized hamartomatous overgrowth of any tissue. Unusual malignancies have been observed, such as cystadenoma of the ovary, testicular tumors, central nervous system tumors, and parotid monomorphic adenomas.

Tests Available

Forms and Documents

Test Details

PTEN
  • An adult with features of PTEN hamartoma tumor syndrome (PHTS), such as characteristic skin lesions (trichilemmomas, acral keratoses, papillomas, lipomas, etc.), macrocephaly, gastrointestinal polyps (especially hamartomas or ganglioneuromas), Lhermitte-Duclos disease, or associated cancers (breast, endometrial, non-medullary thyroid, renal, melanoma, colon), among other features
  • A child with early-onset features of PHTS, such as macrocephaly, autism, developmental delay, lipomas, penile freckling, or vascular anomalies, among other features
  • An unaffected individual with a family history suggestive of PHTS (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Exon Array CGH

Ordering

195
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81321x1, 81323x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Eng, C. Hum Mutat. 22: 183-98, 2003
  2. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  3. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  6. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  7. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  8. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002

Forms and Documents

Test Details

PTEN
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

1954
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • v12.72 Colonic polyps
  • 214 Lipoma Includes: angiolipoma fibrolipoma hibernoma lipoma (fetal) (infiltrating) (intramuscular) myelolipoma myxolipoma
  • 174 Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • 742.4 Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002
  2. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  3. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  6. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  7. Eng, C. Hum Mutat. 22: 183-98, 2003
  8. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000

Forms and Documents

Test Details

PTEN
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1953
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1, 81323x1
No
Yes
  • v12.72 Colonic polyps
  • 214 Lipoma Includes: angiolipoma fibrolipoma hibernoma lipoma (fetal) (infiltrating) (intramuscular) myelolipoma myxolipoma
  • 174 Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • 742.4 Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  2. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  3. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002
  4. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  5. Eng, C. Hum Mutat. 22: 183-98, 2003
  6. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  7. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  8. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998