Parathyroid Carcinoma

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)
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
  • Capillary Sequencing

Ordering

173
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 753.1 Cystic kidney disease Excludes: acquired cyst of kidney (593.2)
  • 252 Disorders of parathyroid gland Excludes: hungry bone syndrome (275.5)
  • 213.1 Lower jaw bone
  • v18.1 Other endocrine and metabolic diseases
  • 194.1 Parathyroid gland
  • 227.1 Parathyroid gland
* For price inquiries please email zebras@genedx.com

References

  1. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002
  2. Shattuck, T. et al., Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349: 1722-9, 2003
  3. Villablanca, A. et al., Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 41: e32, 2004
  4. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  5. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006

Forms and Documents

Test Details

CDC73 (HRPT2)
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
  • Capillary Sequencing

Ordering

1732
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 753.1 Cystic kidney disease Excludes: acquired cyst of kidney (593.2)
  • 252 Disorders of parathyroid gland Excludes: hungry bone syndrome (275.5)
  • 213.1 Lower jaw bone
  • v18.1 Other endocrine and metabolic diseases
  • 194.1 Parathyroid gland
  • 227.1 Parathyroid gland
* For price inquiries please email zebras@genedx.com

References

  1. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  2. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006
  3. Villablanca, A. et al., Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 41: e32, 2004
  4. Shattuck, T. et al., Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349: 1722-9, 2003
  5. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002

Forms and Documents

Test Details

CDC73 (HRPT2)
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
  • Capillary Sequencing

Ordering

1731
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 753.1 Cystic kidney disease Excludes: acquired cyst of kidney (593.2)
  • 252 Disorders of parathyroid gland Excludes: hungry bone syndrome (275.5)
  • 213.1 Lower jaw bone
  • v18.1 Other endocrine and metabolic diseases
  • 194.1 Parathyroid gland
  • 227.1 Parathyroid gland
* For price inquiries please email zebras@genedx.com

References

  1. Mizusawa, N. et al., Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65: 9-16, 2006
  2. Warner, J. et al., Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41: 155-60, 2004
  3. Villablanca, A. et al., Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 41: e32, 2004
  4. Carpten, J. D. et al., HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genet. 32: 676-80, 2002
  5. Shattuck, T. et al., Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349: 1722-9, 2003

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
  • Exon Array CGH

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.