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RET 원종양 유전자 코돈 634에 점돌연변이가 있는 제2형 다발성 내분비 선종 가계
오세준 ( Se Joon Oh ),이진춘 ( Jin Choon Lee ),이병주 ( Byung Joo Lee ),왕수건 ( Soo Geun Wang ) 대한갑상선학회 2009 International Journal of Thyroidology Vol.2 No.1
Multiple endocrine neoplasia type 2A is a hereditary syndrome characterized by medullary thyroid carcinoma, pheochromocytoma and primary hyperparathyroidism. It is characterized by a high concentration of serum calcitonin. Recent genetic studies have identified the presence of germline missense mutations in the RET proto-oncogene in almost 100% of MEN-2 patients. We report a patient (19-year old man) of MEN-2A family with point mutation at codon 634 of the RET proto-oncogene. He presented both thyroid nodules, and laboratory examination of blood revealed elevated serum calcitonin. Although ultrasonography, CT and FNAC had shown no evidence of malignancy, the patient had underwent total thyroidectomy and central neck dissection prophylactically. The result of pathologic finding was medullary thyroid cancer without LN metastasis. We identified a point mutation of TGC (Cys) to TAC (Tyr) at codon 634 of exon 11 at RET proto-oncogene in 5 cases from the patient and his family by DNA sequencing test.
노정민 ( Jung Min Roh ),이윤범 ( Yoon Bum Lee ),안혜림 ( Hye Rim An ),심우호 ( Woo Ho Shim ),이은해 ( Eun Hae Lee ),홍순원 ( Soon Won Hong ),조민호 ( Min Ho Cho ) 대한내과학회 2010 대한내과학회지 Vol.79 No.4
Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and other hyperplasias or neoplasias of different endocrine tissues within a single patient. Simultaneous occurrence of MEN2 and other cancers that are derived from different origins is rare. In this report, we present a patient with known MEN2 who developed breast cancer as a result of invasive ductal carcinoma. The patient underwent total thyroidectomy and unilateral adrenalectomy due to medullary thyroid cancer and pheochromocytoma. Although patients with MEN2 may demonstrate a variety of neoplastic disorders, it is difficult to identify a case report of MEN2 with breast cancer. In addition, no etiological relationships between breast cancer and MEN2 have been reported to date. Thus, here we report a case of known MEN2 with breast cancer and present a review of the literature. (Korean J Med 79:432-437, 2010)