• The Korean Journal of Nuclear Medicine
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• v.25 no.1
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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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• v.16 no.6
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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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• v.31 no.2
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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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• v.55 no.3
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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.

• Kosin Medical Journal
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• v.33 no.3
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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.

• The Korean Journal of Nuclear Medicine
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• v.29 no.4
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• pp.460-464
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• 1995

[ $^{201}T1/^{99m}Tc$ ] pertechnetate subtraction scintigraphy of the parathyroid gland was performed in a study of 8 patients with clinical and biochemical evidence of hyperparathyroidism for diagnosis and Localization of the lesion prior to sugery. 6 cases of parathyroid adenomas were accurately localized and 2 cases of diffuse hyperplasia associated with chronic renal failure(CRF) and multiple endocrine neoplasia (MEN) type I. $^{201}T1/^{99m}Tc$ pertechnetate scan was useful for patients with hyperparathyroidism, especially in definite localization preoperatively.

• The Korean Journal of Nuclear Medicine
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• v.29 no.3
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• pp.319-327
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• 1995

$^{131}I$-metaiodobenzylguanidine(MIBG) has been used for the diagnosis and treatment of neural crest tumors. We report our experience with this agent in 8 patients[1 multiple endocrine neoplasia(MEN) type IIb; 2 malignant pheochromocytoma; 5 medullary thyroid carcinoma(MTC)]. The therapeutic procedure consisted of 30-200 mCi of $^{131}I-MIBG$ administered by slow I.V. infusion, given at 3-6 months intervals. Commutative activity ranged from 150 mCi to 410 mCi, in 1 to 4 courses. $^{131}I-MIBG$ therapy resulted in significant disease free interval in 1 malignant pheochromocytoma(no measurable lesion) after surgery; complete hormonal and tumoral response in 2 MTC(1 MEN IIb): stable disease in 1 recurred pheochromocytoma(MEN IIb): stable disease but symptomatic improvement in 1 MTC, progressive disease in 1 malignant pheochromocytoma and 2 MTC. The patients who showed progression appeared to have large inoperable tumors or postoperative remnant tumors.