Familial Medullary Thyroid Cancer

FMTC (Familial Medullary Thyroid Carcinoma) is diagnosed in families with four cases of medullary thyroid carcinoma (MTC) in the absence of pheochromocytoma or parathyroid adenoma. The medullary thyroid cancer associated with FMTC is typically later onset and may be subclinical; therefore, in some families RET genetic testing may be necessary to differentiate sporadic medullary thyroid cancer from FMTC.

Tests Available

Forms and Documents

Test Details

RET
  • Confirmation of a clinical diagnosis
  • Determination of appropriate screening and surgical management
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1793
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 227 Benign neoplasm of other endocrine glands and related structures Use additional code to identify any functional activity Excludes: ovary (220) pancreas (211.6) testis (222.0)
  • 193 Malignant neoplasm of thyroid gland, Thyroglossal duct
* For price inquiries please email zebras@genedx.com

References

  1. Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003
  2. Shirahama S et al. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106, 1998
  3. Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001
  4. Elisei, R et al., RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12)4725-4729, 2007
  5. Mulligan, L.M. et al., Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 238: 343-6, 1995
  6. Mulligan, L.M. et al., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6: 70-4, 1994
  7. Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997

Forms and Documents

Test Details

RET
  • Confirmation of a clinical diagnosis
  • Determination of appropriate screening and surgical management
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1791
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 227 Benign neoplasm of other endocrine glands and related structures Use additional code to identify any functional activity Excludes: ovary (220) pancreas (211.6) testis (222.0)
  • 193 Malignant neoplasm of thyroid gland, Thyroglossal duct
* For price inquiries please email zebras@genedx.com

References

  1. Mulligan, L.M. et al., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6: 70-4, 1994
  2. Mulligan, L.M. et al., Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 238: 343-6, 1995
  3. Elisei, R et al., RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12)4725-4729, 2007
  4. Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997
  5. Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001
  6. Shirahama S et al. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106, 1998
  7. Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003

Forms and Documents

Test Details

RET
  • Confirmation of a clinical diagnosis
  • Determination of appropriate screening and surgical management
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

177
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
Yes
Yes
  • 227 Benign neoplasm of other endocrine glands and related structures Use additional code to identify any functional activity Excludes: ovary (220) pancreas (211.6) testis (222.0)
  • 193 Malignant neoplasm of thyroid gland, Thyroglossal duct
* For price inquiries please email zebras@genedx.com

References

  1. Mulligan, L.M. et al., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6: 70-4, 1994
  2. Mulligan, L.M. et al., Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 238: 343-6, 1995
  3. Elisei, R et al., RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12)4725-4729, 2007
  4. Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997
  5. Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001
  6. Shirahama S et al. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106, 1998
  7. Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003