Early prophylactic thyroidectomy for RETmutation-positive MEN 2B
Corresponding Author
Ozlem Engiz
Departments of Pediatric Endocrinology and Metabolism,
Ozlem Engiz, MD, Yesilvadi sok Konut Kuleleri, B Blok No: 39/22, Dikmen/Ankara 06450, Turkey. Email: [email protected]Search for more papers by this authorGonul Ocal
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this authorZeynep Siklar
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this authorSibel Percinel
Pathology, Ankara University, School of Medicine, Ankara, Turkey
Search for more papers by this authorPelin Bilir
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this authorMerih Berberoglu
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this authorCorresponding Author
Ozlem Engiz
Departments of Pediatric Endocrinology and Metabolism,
Ozlem Engiz, MD, Yesilvadi sok Konut Kuleleri, B Blok No: 39/22, Dikmen/Ankara 06450, Turkey. Email: [email protected]Search for more papers by this authorGonul Ocal
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this authorZeynep Siklar
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this authorSibel Percinel
Pathology, Ankara University, School of Medicine, Ankara, Turkey
Search for more papers by this authorPelin Bilir
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this authorMerih Berberoglu
Departments of Pediatric Endocrinology and Metabolism,
Search for more papers by this author
References
- 1 Peczkowska M, Januszewicz A. Multiple endocrine neoplasia type 2. Fam. Cancer 2005; 4: 25–36.
- 2 Mulligan LM, Kwok JB, Healey CS et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993; 363: 458–60.
- 3 Donis-Keller H, Dou S, Chi D et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum. Mol. Genet. 1993; 2: 851–56.
- 4 Brandi ML, Gagel RF, Angeli A et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab. 2001; 86: 5658–71.
- 5 Sanso GE, Domene HM, Garcia R et al. Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: Presence of C-cell malignant disease in asymptomatic carriers. Cancer 2002; 94: 323–30.
- 6 Van Heurn LW, Schaap C, Sie G et al. Predictive DNA testing for multiple endocrine neoplasia 2: A therapeutic challenge of prophylactic thyroidectomy in very young children. J. Pediatr. Surg. 1999; 34: 568–71.
- 7 Wolfe HJ, Melvin KEW, Cevri-Skinner SJ et al. C-cell hyperplasia preceding medullary thyroid carcinoma. N. Engl. J. Med. 1973; 289: 437–41.
- 8
DeLellis RA.
C-cell hyperplasia: A current perspective.
Adv. Anat. Pathol.
1997; 4: 17–22.
10.1097/00125480-199701000-00002 Google Scholar
- 9 Maeda S, Namba H, Takamura N et al. A single missense mutation in codon 918 of the RET proto-oncogene in sporadic medullary thyroid carcinomas. Endocr. J. 1995; 42: 245–50.
- 10 Pausova Z, Soliman E, Amizuka N et al. Role of the RET proto-oncogene in sporadic hyperparathyroidism and in hyperparathyroidism of multiple endocrine neoplasia type 2. J. Clin. Endocrinol. Metab. 1996; 81: 2711–18.
- 11 Skinner MA, DeBenedetti MK, Moley JF, Norton JA, Wells SA Jr. Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. J. Pediatr. Surg. 1996; 31: 177–82.
- 12 Hofstra RM, Landsvater RM, Ceccherini I et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994; 367: 375–76.
- 13 Eng C, Clayton D, Schuffenecker I et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET mutation consortium analysis. JAMA 1996; 276: 1575–79.
- 14 Eng C, Smith DP, Mulligan LM et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum. Mol. Genet. 1994; 3: 237–41.
- 15 Niccoli-Sire P, Murat A, Baudin E et al. Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: Results in 71 thyroidectomized patients. The French Calcitonin Tumours Study Group (GETC). Eur. J. Endocrinol. 1999; 141: 468–74.