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비전형적인 임상경과를 보인 제1형 다발성 내분비선종 1예
최윤선,배연선,구본정,조영석,김영건,노흥규,송민호 대한내분비학회 2008 Endocrinology and metabolism Vol.23 No.4
Multiple endocrine neoplasia type 1 (MEN 1) is characterized by the combined occurrence of primary hyperparathyroidism, enteropancreatic tumors and anterior pituitary adenoma. Yet carcinoid tumors, adrenal adenoma and lipoma might exist simultaneously. Thymic carcinoid tumors, which are recognized as one of the causes of death for patients with MEN 1, are uncommon and their natural history has barely been investigated. A 51-year-old man, who had undergone surgery and radiation therapy for thymic carcinoid tumor 15 years ago, was admitted to our hospital due to hypercalcemia that was detected on a routine health checkup. We found that he had hyperparathyroidism, a nonfunctioning pancreatic tumor and thyroid papillary microcarcinoma. We had studied the genetic alteration of the MEN 1 gene (menin) by using leukocyte genomic DNA. This genetic analysis clearly showed the missense mutation of the MEN 1 gene (V215M on exon 3). The thymic carcinoid tumor in this patient showed a relatively indolent course, in contrast to that for the ordinary MEN 1 patient, and this patient's thyroid papillary microcarcinoma was discovered incidentally. We present here this atypical case along with a review of the relevant literature. Multiple endocrine neoplasia type 1 (MEN 1) is characterized by the combined occurrence of primary hyperparathyroidism, enteropancreatic tumors and anterior pituitary adenoma. Yet carcinoid tumors, adrenal adenoma and lipoma might exist simultaneously. Thymic carcinoid tumors, which are recognized as one of the causes of death for patients with MEN 1, are uncommon and their natural history has barely been investigated. A 51-year-old man, who had undergone surgery and radiation therapy for thymic carcinoid tumor 15 years ago, was admitted to our hospital due to hypercalcemia that was detected on a routine health checkup. We found that he had hyperparathyroidism, a nonfunctioning pancreatic tumor and thyroid papillary microcarcinoma. We had studied the genetic alteration of the MEN 1 gene (menin) by using leukocyte genomic DNA. This genetic analysis clearly showed the missense mutation of the MEN 1 gene (V215M on exon 3). The thymic carcinoid tumor in this patient showed a relatively indolent course, in contrast to that for the ordinary MEN 1 patient, and this patient's thyroid papillary microcarcinoma was discovered incidentally. We present here this atypical case along with a review of the relevant literature.
CYP21 유전자의 복잡한 이형접합체 변이에 의한 단순 남성형 선천성 부신 과증식 2예
김군순,최윤선,배연선,나소영,조영석,송민호 대한내분비학회 2007 Endocrinology and metabolism Vol.22 No.4
Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), which is an inherited inability to synthesize cortisol. Actually, CAH is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. In some cases, discordance has been observed between the genotype and the phenotype. We recently experienced two cases of simple virilizing congenital adrenal hyperplasia with compound heterozygous mutations of the CYP21 gene. The patients had primary amenorrhea and showed virilization. We have described these two cases along with a review of the literature. 저자들은 원발성 무월경, 다모증, 저신장, 남성의 외모를 보이는 2명의 환자에서 내분비 호르몬 검사, 방사선검사 소견, 유전자 검사 등을 통하여 전형적인 단순 남성형 선천성 부신 과증식으로 확진을 하였다. 각각의 환자에서 CYP21 유전자의 점돌연변이 I172N을 포함하는 두 군데 이상의 복잡한 이형접합체 돌연변이의 유전형 2례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.
갑상선 유두암에서 MHC class II 항원의 발현과 임상양상과의 관계
이준철,김설영,최윤선,배연선,김윤정,이인석,권기현,나소영,구본정,김영건,노흥규,이생금,김진만,조영석,송민호 대한내분비학회 2007 Endocrinology and metabolism Vol.22 No.1
Background: Papillary thyroid carcinoma is among the most curable cancers, but some patients are at high risk for recurrence or even death. MHC antigens are essential molecules for the pathogenesis of carcinoma and also the physiologic immune responses against tumor. However, there is no data about the relationship between the expression of MHC antigens and the clinical prognosis of papillary thyroid carcinoma patients. Methods: We analyzed the relationship between the various prognostic factors and the MHC antigen expression by conducting a retrospective study of 215 patients, who had undergone thyroidectomy for papillary thyroid carcinoma between 1987 and 2003. Results: The expressions of MHC class II antigens were more frequent in papillary thyroid carcinoma than in the other thyroid diseases. Yet there was no statistically significant relationship between most of the clinicopathological factors and the expression of MHC class II antigens in papillary thyroid carcinoma patients. Interestingly, an HLA-DR expression was found in 8 (30.8%) of the 26 patients in the recurrence group and in 13 (76.5%) of the 17 patients in the non-recurrence group, and HLA-DP/DQ immunoreactivity was positive in 10 (38.5%) cases of the recurrence group and in 14 (82.4%) cases of the non-recurrence group. Conclusion: Papillary thyroid carcinoma showed a more frequent expression of MHC Class II antigens. However, the recurred papillary thyroid carcinoma showed a tendency to downregulate the expression of MHC class II antigens. Hence, the molecular mechanism for the expression of MHC class II antigens might have a role in the recurrence of papillary thyroid carcinoma. (J Kor Endocrinol Soc 22:26~34, 2007) 연구배경: 갑상선 유두암은 비교적 예후가 좋은 것으로 알려져 있으나 재발을 하거나 원격전이 및 주위조직 침습을 동반하는 경우 예후가 나쁜 것으로 알려져 있다. 그러나 현재 갑상선 유두암의 예후를 예상할 수 있는 적당한 분자표지자가 없는 상태이다. MHC 항원은 갑상선암의 발생 및 진행에 대한 면역반응에 필수적인 분자로 알려져 있다. 또한 최근 진행된 연구에 의해 MHC class II 항원이 갑상선 유두암의 발암 유전자 돌연변이에 의해 발현이 증가된다는 사실이 알려졌다. 이에 저자들은 MHC class II 항원의 발현 유무와 갑상선 유두암의 임상양상의 관련성을 평가하기 위하여 본 연구를 수행하였다. 방법: 1987년부터 2003년까지 갑상선 절제술을 시행한 215명의 환자를 대상으로 의무기록 검토를 통한 임상양상 및 다양한 예후 인자들에 대한 후향적 분석을 시행하였으며 이들의 갑상선 조직에 대한 면역조직화학적 염색을 통해 MHC class II 항원의 발현 유무를 조사하였다. 추적관찰을 통해 재발 여부를 분명하게 판정할 수 있는 43명의 갑상선 유두암 환자를 선별하여 재발군과 비재발군으로 분류하였으며 두 군 간의 MHC 항원의 발현 양상에 따른 차이를 비교하였다. 결과: MHC class II 항원은 양성 질환에 비해 갑상선암에서 발현이 증가되어 있었으며 특히 갑상선 유두암에서 통계학적으로 의미 있게 발현이 증가되어 있었다. 갑상선 유두암에서 나이를 제외한 대부분의 임상적 인자 및 병리학적 인자들이 MHC class II 항원의 발현 유무에 따른 차이를 보이지 않았다. MHC class I 항원은 재발군과 비재발군 사이에서 발현 양상에 차이가 나지 않았으나 MHC class II 항원의 경우 재발군에서 발현이 억제되어 있어 비재발군과 통계학적으로 의미 있는 차이를 보였다.