• Journal of Digestive Cancer Research
• /
• v.3 no.1
• /
• pp.21-25
• /
• 2015

Gastric neuroendocrine tumors (GNETs, also known as gastric carcinoids) are rare form of hormone-secreting neoplasms that present with varied clinical syndromes. There are four types of GNETs based on size, proliferation, localization, differentiation, and hormone production. Type I GNET is related to autoimmune atrophic gastritis and hypergastrinemia. Type II GNETs are related to multiple endocrine neoplasia (MEN)-1, Zollinger-Ellison syndrome and hypergastrinemia. Type 3 GNETs are not associated with any background pathology, and type 4 GNETs are poorly differentiated tumors. The most useful diagnostic and prognostic marker for gastrointestinal NETs is plasma chromogranin A (CgA) levels. Endoscopic ultrasound is the method of choice to determine tumor size and depth of infiltration. For optimal management, the type, biology, and stage of the tumor must be considered. Here, we provide a comprehensive and up-to-date review of GNETs.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.6
• /
• pp.2107-2117
• /
• 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 Chest Surgery
• /
• v.52 no.6
• /
• pp.420-424
• /
• 2019

Atypical thymic carcinoid is an extremely rare tumor with a poor prognosis. In addition to its known association with multiple endocrine neoplasia type 1, its hallmark characteristics include local invasion and early distant metastasis. In this report, we share our experience treating atypical thymic carcinoid in a patient with Zollinger-Ellison syndrome.

• The Korean Journal of Nuclear Medicine
• /
• v.25 no.1
• /
• pp.122-128
• /
• 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.

• Korean Journal of Head & Neck Oncology
• /
• v.24 no.2
• /
• pp.151-154
• /
• 2008

• Journal of Yeungnam Medical Science
• /
• v.31 no.2
• /
• pp.131-134
• /
• 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.

• Kosin Medical Journal
• /
• v.33 no.3
• /
• pp.446-453
• /
• 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.

• Korean Journal of Bronchoesophagology
• /
• v.2 no.2
• /
• pp.274-279
• /
• 1996

Medullary thyroid carcinoma constitutes about 5-10% of all thyroid malignancies, but rare in children. It has frequent association with multiple endocrine neoplasia(MEN) and frequent familial occurrence. They are derived from parafollicular cells of thyroid glands and produce calcitonin. They are capable of local invasion, spread to regional lymph nodes, or distant metastases. Histopathologically, the lesions are characterized by sheets of non-follicular cells surrounded by deposits of hyaline amyloid. Aggressive surgical intervention is recommended due to the propensity of medullary thyroid carcinoma for local microvascular invasion, late recurrence and metastasis. A total thyroidectomy is generally recommended because of the high incidence of bilaterality. Recently, authors experienced a case of medullary carcinoma in child. We report this case with review of the literatures.

• The Korean Journal of Nuclear Medicine
• /
• v.24 no.2
• /
• pp.332-336
• /
• 1990

Pheochromocytoma occurs at all ages but is most common in young to midadult life. In adults 10 percent of pheochronocytoma are bilateral. And bilateral lesions are common in the familial syndromes; within Multiple Endocrine Neoplasia (MEN) kindreds over half with pheochromocytomas have bilateral lesions. We report a case of bilateral pheochromocytoma firstly detected by ultrasonogram. This 24-year-old male was normotensive and had symptoms of dilated cardiomyopathy and elevated VMA level. CT and MRI were performed to evaluate the tissue nature and associated abnormalities. $^{131}I-MIBG$ scan seems to be the imaging of choice in patients with suspected multicentric/bilateral or recurrent or metastatic pheochromocytomas.

• The Korean journal of helicobacter and upper gastrointestinal research
• /
• v.18 no.4
• /
• pp.271-274
• /
• 2018

Ganglioneuroma of the gastrointestinal tract is a rare tumor that consists of ganglion cells, nerve fibers, and supporting cells of the enteric nervous system. Ganglioneuromas are usually associated with genetic disorders such as the multiple endocrine neoplasia syndrome or neurofibromatosis. Ganglioneuromas of the gastrointestinal tract predominantly involve the colon and rectum, and reports about duodenal ganglioneuromas are few. Herein, we report a case of duodenal ganglioneuroma treated with endoscopic resection. A 56-year-old female patient visited our hospital because of a subepithelial tumor in the second portion of the duodenum. She had no remarkable medical or family history and revealed no history of genetic disorders. Endoscopic ultrasonography and abdominal computed tomography revealed a tumor located mainly in the submucosal layer, without any regional lymph node involvement. Endoscopic resection of the lesion was performed, and the pathological examination confirmed a duodenal ganglioneuroma.