Carney Complex

Carney Complex is a multiple endocrine neoplasia syndrome characterized by heart, endocrine, skin, and neural tumors, as well as a variety of pigmented lesions of the skin and mucosal surfaces. The disorder may involve multiple endocrine glands, in particular thyroid and adrenal cortex. Carney Complex may include Cushing syndrome and micronodular adrenocortical hyperplasia, acromegaly, breast fibroadenoma, thyroid gland abnormalities and tumors, schwannomas, and/or osteochondromyxomas. Pigmented skin nevi and lentigines occur over the entire body, including lips and conjunctiva. Lesions can be brown-black, blue, or freckles. Myxoid tumors of many types may develop on any skin surface, including eyelids. Myxomas of the heart, especially atrial myxomas, are not uncommon. Carney Complex is due to mutations in the PRKAR1A gene on chromosome 17q22-q24, coding for the type 1-alpha regulatory subunit of protein kinase A. Carney Complex overlaps with Cushing disease, Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and other adrenal hyperplasias, which in some patients have been associated with mutations in the PDE11A gene involved in cAMP signaling.

Tests Available

Forms and Documents

Test Details

PRKAR1A
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

198
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • m884 Carney Complex (Myxomatous tumors)
* For price inquiries please email zebras@genedx.com

References

  1. Horvath et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006; 38(7):794-800
  2. Horvath et al., Large deletions of the PRKAR1A gene in Carney Complex. Clin Cancer Res. 2008; 14(2):388
  3. Kirschner, Lawrence S et al., Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex Nat Genet 26(1):89-92 (2000)
  4. Groussin et al., Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and PPNAD reveals novel mutations and clue for pathophysiology: Augmented PKA signaling is associat
  5. Casey, Maired et al., Mutations in the protein kinase A R1alpha regulartory subunit cause familial cardiac myxomas and Carney complex J of Clin Invest 106: R31-R38 (2000)

Forms and Documents

Test Details

PRKAR1A
  • An individual with a personal and family history of skin pigment abnormalities and/or tumors associated with Carney Complex such as lentigines, myxoma, primary pigmented nodular adrenocortical disease (PPNAD), psammomatous melanotic schwannomas (PMS), large-cell calcifying Sertoli cell tumors (LCCSCT) and other tumors
  • An individual with multiple tumors associated with Carney Complex, particularly if at least one is early-onset
  • An individual with a personal history of a rare tumor associated with Carney Complex such as cardiac myxoma, PPNAD, PMS, and other tumors
  • An unaffected individual with a family history suggestive of Carney Complex (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Exon Array CGH

Ordering

715
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Groussin et al., Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and PPNAD reveals novel mutations and clue for pathophysiology: Augmented PKA signaling is associat
  2. Horvath et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006; 38(7):794-800
  3. Horvath et al., Large deletions of the PRKAR1A gene in Carney Complex. Clin Cancer Res. 2008; 14(2):388
  4. Casey, Maired et al., Mutations in the protein kinase A R1alpha regulartory subunit cause familial cardiac myxomas and Carney complex J of Clin Invest 106: R31-R38 (2000)
  5. Kirschner, Lawrence S et al., Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex Nat Genet 26(1):89-92 (2000)