• 대한핵의학회지
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• 제25권1호
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• pp.122-128
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• 1991

Multiple endocrine neoplasia type 2 (MEN type 2, Sipple's syndrome) is a rare disorder characterized by the association of medullary carcinoma of the thyroid, parathyroid hyperplasia and can be diagonsed in early stage of the disease by meticulous screening tests of the family. This case report describes the location and categorization of tumors using $^{99m}Tc-pertechnetate,\;^{131}I-NaI,\;^{99m}Tc-pentavalent(V)$, DMSA $^{131}I-MIBG$ scans in two cases of MEN type 2 occurred in a 32-year old women and her 29-year old brother. In MEN type 2, we think, combined use of $^{99m}Tc-(V)-DMSA,\;^{99m}Tc-pertechnetate\;and\;^{131}I-MIBG$ may be useful for the categorization of tumor mass lesions and planning appropriate therapy.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2107-2117
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• 2015

Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

• Journal of Yeungnam Medical Science
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• 제31권2호
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• pp.131-134
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• 2014

Familial isolated primary hyperparathyroidism(FIPH) is associated with multiple endocrine neoplasia type 1 (MEN1) syndrome, primary hyperparathyroidism accompanied by jaw-tumor syndrome, and familial hypocalciuric hypercalcemia. FIPH may be an early stage of MEN1 or an allelic variant of MEN1. Thymic carcinoid tumor is a rare tumor in MEN1 syndrome. Here, the authors report the case of a 40-year-old man diagnosed with recurrent thymic carcinoid tumor and FIPH. Both the patient and his elder sister had been previously diagnosed to have FIPH with a novel frameshift mutation in the MEN1 gene. Initially, the patient underwent thymectomy because of an incidental finding of a mediastinal mass in his chest X-ray, and had remained asymptomatic over the following 4 years. Pancreas computed tomography conducted to evaluate MEN1 syndrome revealed anterior and middle mediastinal masses, and resultantly, massive mass excision was performed. Histological findings disclosed atypical carcinoids with infiltrative margins. In view of the thymic carcinoid tumor relapse that occurred in this patient, the authors recommend that regular pancreas and pituitary imaging studies be conducted for FIPH associated with a MEN1 gene mutation.

• Clinical Endoscopy
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• 제55권3호
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• pp.452-457
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• 2022

Colonic diffuse ganglioneuromatosis is an extremely rare disease in which multiple tumors derived from the ganglion cells, nerve fibers, and supporting cells are distributed in the colon. It is generally considered to be a benign neoplastic condition and is occasionally associated with rare hereditary conditions such as neurofibromatosis type I or multiple endocrine neoplasia type 2B. Here, we report a case of a patient in whom colon cancer developed 12 years after the initial diagnosis of colonic diffuse ganglioneuromatosis, which suggests a possible association between colonic diffuse ganglioneuromatosis and colorectal cancer.

• 고신대학교 의과대학 학술지
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• 제33권3호
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• pp.446-453
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• 2018

Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4-12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.

• 대한핵의학회지
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• 제29권4호
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• pp.460-464
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• 1995

임상적으로 부갑상선 항진증이 의심되는 8명의 환자들을 대상으로 하여 수술 전에 정확한 병변의 위치를 확인하고자 $^{201}T1/^{99m}Tc$ 감영 스캔을 시행하였다. 6예에서 부갑상선 선종이 진단되었고 이들 전부가 수술 소견과 동일한 위치에서 양성소견을 보였으며, 수술 후 병리조직학적으로 확진 되었다. 나머지 2예는 만성 신부전, MEN type I 과 동반된 미만성 부갑상선 과형성증이었다. 결론적으로 $^{201}T1/^{99m}Tc$ 감영 스캔은 부갑상선 항진증의 진단에 유리하며, 특히 수술 전, 부갑상선 선종의 위치 확인에 유용하다.

• 대한핵의학회지
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• 제29권3호
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• pp.319-327
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• 1995

목적 : 악성 갈색세포종 및 갑상선수질암의 치료에서 $^{131}I-MIBG$의 유용성에 대하여 분석하고자 한다. 방법 : 1993년 2월부터 1995년 2월까지 원자력병원에서 $^{131}I-MIBG$를 이용하여 치료한 악성 갈색세포종 3예, 갑상선수질암 6예(1예은 다발성 내분비선종 제IIb 형)에 대한 의무기록을 후향적으로 분석하였다. 결과 : 악성 갈색세포종 3예중 수술후 미소전이 병소에 대해 치료한 1예는 19개월간 무병기간을 유지하고 있으며, 수술후 재발한 1예는 불변, 절제가 불가능한 1예는 진행하였다. 갑상선수질암 6예중 평가 가능한 경우는 5예였으며, 완전관해가 2예, 그 중 1예는 완전관해후 9개월에 재발, 불변이지만 증상의 호전이 1예, 진행이 2예였다. 진행되는 환자의 특징은 진단시에 절제불능이거나 수술후 종양이 남아있는 경우로 보였다. 결론 : $^{131}I-MIBG$ 치료는 수술후 미소전이 병소의 치료와 수술후 재발 혹은 전이성 갈색세포종 및 갑상선수질암에서 일부 효과가 있어 다른 선택 가능한 치료방법이 없을 경우 시도해 볼만한 치료방법으로서 향후 충분한 임상례를 통하여 연구되어야 할 것으로 생각된다.