No abstract available.
Multiple Endocrine Neoplasia Type 2a* ; Multiple Endocrine Neoplasia*

No abstract available.
Multiple Endocrine Neoplasia Type 2a* ; Multiple Endocrine Neoplasia*

Pheochromocytoma is a catecholamine producing turnor and raise with less than 0.1% of hypertensive patients. It is developed, most commonly, in sporadic pheochromocytoma or multiple endocrine neoplasia type 2. Therefore, when hypercalcitoninemia is found in a patient with pheochromocytoma, the possibility of multiple endocrine neoplasia type 2 or the ectopic secretion of calcitonin must be considered. Recently we experienced a 45 year old male patient with sporadic pheochrornocytoma. He also had hypercalcitoninemia and normocalcemia. After the removal of pheochromocytoma, serum calcitnnin level returned to normal. Secretion of calcitonin was confirmed by immunohisto- chemical stain.
Calcitonin ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a ; Pheochromocytoma

Humans ; Polyendocrinopathies, Autoimmune ; Multiple Endocrine Neoplasia Type 2a ; Syndrome

PURPOSE: Multiple Endocrine Neoplasia Type 2A (MEN 2A) is an autosomal dominant disease characterized by development of the medullary thyroid cancer, adrenal pheochromocytoma and parathyroid hyperplasia. Gennline mutations of RET gene, which cause a susceptibility to MEN 2A syndrome, have been reported in MEN 2A families. The identification of germline mutation in family members with hereditary tumor syndrome makes the presymptomatic diagnosis possible. However, there are only a few reports on the germline mutation of RET gene in Korean patients with MEN 2A. This study was performed to investigate the germline mutation of RET gene in a Korean MEN 2A family. MATERIALS AND METHODS: Blood samples were taken from family members of a MEN 2A family. Mutational status was investigated using single strand conformation polymorphism (SSCP) method, and following direct sequencing. Basal level of calcitonin was measured, and calcium provocation test was done when the result of basal level of calcitonin was equivocal. RESULTS: A missense type germline mutation of RET gene was identified at codon 634 (TGC->TGG) in eight patients from the family. All patients with the germline mutation of RET gene showed elevation of calcitonin level either in basal test or in calcitonin provocation test. CONCLUSION: We identified a germline mutation of RET gene in a family with MEN 2A, and it would make the accurate presymptomatic diagnosis possible.
Calcitonin ; Calcium ; Codon ; Diagnosis ; Germ-Line Mutation ; Humans ; Hyperplasia ; Multiple Endocrine Neoplasia Type 2a* ; Multiple Endocrine Neoplasia* ; Pheochromocytoma ; Thyroid Neoplasms

Multiple endocrine neoplasia (MEN) is defined as a disorder with neoplasms in two or more different hormonal tissues in several members of a family. MEN1, or Wermer's syndrome, is inherited as an autosomal dominant trait. This syndrome is characterized by neoplasia of the parathyroid glands, enteropancreatic tumors, anterior pituitary adenomas, and other neuroendocrine tumors with variable penetrance. Inherited medullary thyroid carcinoma (MTC) consists of MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC). The identification of hereditary MTC has been facilitated in recent years by direct analysis of germline RET proto-oncogene mutation.
Carcinoma, Medullary ; Humans ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 1 ; Multiple Endocrine Neoplasia Type 2a ; Multiple Endocrine Neoplasia Type 2b ; Neuroendocrine Tumors ; Parathyroid Glands ; Penetrance ; Pituitary Neoplasms ; Proto-Oncogenes ; Thyroid Gland ; Thyroid Neoplasms

We report a case of multiple endocrine neoplasia (MEN) type 2A and summarize the clinical characteristics, diagnosis and treatment of this condition. The diagnosis of MEN type 2A relies on a comprehensive evaluation of the findings of ultrasound, CT and laboratory examinations, and early diagnosis and treatment is critical to improving the prognosis. Genetic testing of RET is the gold standard for diagnosis of MEN type 2A and 2B. Surgical intervention currently remains the primary choice of treatments of this disease.
Genetic Testing ; Humans ; Multiple Endocrine Neoplasia Type 2a ; diagnosis ; therapy ; Prognosis

Diagnostic Errors ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a/diagnosis* ; Myocarditis/diagnosis*

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.
Adrenalectomy ; Breast ; Breast Neoplasms ; Carcinoma, Ductal ; Humans ; Hyperplasia ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a ; Pheochromocytoma ; Proto-Oncogene Proteins c-ret ; Thyroid Neoplasms ; Thyroidectomy

Multiple endocrine neoplasia type2a (MEN type2a) is a dominantly inherited cancer syndrome which is characterized by medullary thyroid carcinoma, pheochromocytoma and parathyroid hyperplasia or adenoma. Recent reports show that DNA analysis will be introduced into screening of MEN type2a families. Regular prospective screening and appropriate surgical intervention can reduce the morbidity and mortality due to MEN type2a. We experienced a case of MEN type 2a in a 46-year-old female patient. She had undergone bilateral adrenalectomy due to pheochromocytoma, followed by a total radical thyroidectomy, which revealed medullary thyroid carcinoma of the both thyroid gland and parathyroid hyperplasia.
Adenoma ; Adrenalectomy ; DNA ; Female ; Humans ; Hyperplasia ; Male ; Mass Screening ; Middle Aged ; Mortality ; Multiple Endocrine Neoplasia Type 2a* ; Multiple Endocrine Neoplasia* ; Pheochromocytoma ; Thyroid Gland ; Thyroid Neoplasms ; Thyroidectomy