Hyperparathyroidism-Jaw Tumor Syndrome

Mutations in the CDC73 (HRPT2) gene are the cause of two related genetic disorders resulting in hyperparathyroidism. Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) is a multiple endocrine neoplasia syndrome characterized by primary hyperparathyroidism due to tumors of the parathyroid gland, ossifying fibromas of the maxilla or mandible (in 30% of affected individuals) , and renal involvement in some patients (bilateral cysts and less frequently solid tumors such as hamartomas and Wilms tumor). The risk of malignancy of the parathyroid glands in HPT-JT has been estimated to be 15%. Familial Isolated Hyperparathyroidism (FIHP) is a nonsyndromic disorder characterized by the presence of multiple family members with hyperparathyroidism.

Tests Available

Forms and Documents

Test Details

CDC73 (HRPT2)
  • An individual with primary hyperparathyroidism and ossifying fibroma(s) of the jaw
  • An individual with early-onset primary hyperparathyroidism (age <45 years)
  • Children diagnosed with ossifying fibroma(s) of the maxilla or mandible
  • An individual with sporadic and/or early-onset parathyroid carcinoma or adenoma
  • An individual with primary hyperparathyroidism or ossifying jaw fibromas and a personal or family history of features associated with Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) such as renal cysts or tumors
  • Familial primary hyperparathyroidism with negative genetic testing for multiple endocrine neoplasia type 1 (MEN1)
  • An unaffected individual with a family history suggestive of CDC73 related conditions (see above) when an affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

721
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Masi et al., (2008) Endocr Relat Cancer 15(4):1115-1126.
  2. Carpten, J. D. et al., (2002) Nature Genet 32: 676-80.
  3. Shattuck, T. et al., (2003) N Engl J Med 349: 1722-9.
  4. Villablanca, A. et al., (2004) J Med Genet 41: e32.
  5. Warner, J. et al., (2004)J Med Genet 41: 155-60.
  6. Mizusawa, N. et al., (2006) Clin Endocrinol 65: 9-16.
  7. Cascon et al., (2011) Genes Chromosomes Cancer 50(11):922-929.
  8. Domingues et al., (2012) Clin Endocrinol 76(1):33-38.

Forms and Documents

Test Details

AIP, APC, CASR, CDC73, CDKN1B, CHEK2, DICER1, MEN1, PRKAR1A, PTEN, RET
  • A personal history of endocrine tumors/disorders (such as: hyperparathyroidism, pituitary adenoma, thyroid cancer, carcinoid tumors, or neuroendocrine tumors).
  • A personal history of parathyroid carcinoma.
  • A personal history of multi-glandular hyperparathyroidism.
  • Multiple relatives on the same side of the family diagnosed with endocrine tumors and/or hyperparathyroidism.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T828
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs | Extracted DNA

Billing

81321x1, 81404x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com