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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 204 - 209 (6page)
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Multiple endocrine neoplasia type 2B (MEN 2B) is an autosomal dominant disorder characterized by medullary thyroid cancer, pheochromocytoma, neuroma and Marfanoid feature. Medullary thyroid cancer occurs in more than 95% patients of MEN 2B and increases mortality. So, the early diagnosis of multiple endocrine neoplasia is very important, because in the early diagnosed and treated medullary thyroid cancer, the prognosis is excellent. This is a case of multiple endocrine neoplasia type 2B that diagnosed early by conjunctival neuroma. A 15-year-old female patient was presented with both conjunctival masses that occurred 6 months ago. The excisional biopsy revealed conjunctival neuroma. The multiple endocrine tumor was suspected, further evaluation was performed. Medullary thyroid cancer was confirmed by thyroid ultrasound and fine needle aspiration. Finally, MEN type 2B was confirmed by a RET mutation genetic testing.
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참고문헌 (20)
참고문헌 신청
Raue F / 2007 / Multiple endocrine neoplasia type 2: 2007 update / Horm Res 68(Suppl 5):101~104
Farndon JR / 1986 / Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity / Br J Surg 73(4):278~281
Schimke RN / 1990 / Multiple endocrine neoplasia: how many syndromes / Am J Med Genet 37(3):375~383
Norton JA / 1979 / Multiple endocrine neoplasia type IIb: the most aggressive form of medullary thyroid carcinoma / Surg Clin North Am 59(1):109~118
Raue F / 1994 / Multiple endocrine neoplasia type 2. Clinical features and screening / Endocrinol Metab Clin North Am 23(1):137~156
Farndon JR / 1986 / Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity / Br J Surg 73(4):278~281
Schimke RN / 1990 / Multiple endocrine neoplasia: how many syndromes / Am J Med Genet 37(3):375~383
Norton JA / 1979 / Multiple endocrine neoplasia type IIb: the most aggressive form of medullary thyroid carcinoma / Surg Clin North Am 59(1):109~118
Raue F / 1994 / Multiple endocrine neoplasia type 2. Clinical features and screening / Endocrinol Metab Clin North Am 23(1):137~156
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