1/12. temporal bone findings in multiple endocrine neoplasia type 2b.To our knowledge, present case is the first published report of temporal bone findings in multiple endocrine neoplasia type 2b (men-2B). We describe a 43-year-old Japanese man with medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and a Marfanoid body habitus. The collateral adrenal tumors and MTC were removed surgically. However, 14 years after surgery, the MTC and pheochromocytoma recurred and the patient died of intracranial hemorrhage due to hypertension. During the autopsy, metastatic MTC was detected in the liver, lungs, kidneys, pancreas and cervical lymph nodes. Recurrent pheochromocytoma was present in the right kidney. Mucosal neuromas were found in the tongue, gastrointestinal tract and vesical nerve plexus. The following histopathological findings were seen in both temporal bones: metastatic MTC was found as well as neuromas and the cochlear aqueduct was widely patent.- - - - - - - - - - ranking = 1keywords = adrenal (Clic here for more details about this article) |
2/12. Multiple endocrine neoplasia (men)--an overview and case report--patient with sporadic bilateral pheochromocytoma, hyperparathyroidism and marfanoid habitus.The multiple endocrine neoplasia syndromes are divided into two categories: men type I and men type II. The men type II syndrome is further divided into men IIa and men IIb. The syndromes are characterized by benign and malignant changes in two or more endocrine organs, as well as incidental changes in nervous, muscular and connective tissue. Two main forms can be distinguished: the men-I syndrome with hyperplasia of the parathyroid gland, accompanied by islet cell tumor and pituitary adenoma; the men-II syndrome with medullary thyroid carcinoma in combination with bilateral pheochromocytoma and hyperplasia of the parathyroid gland (men IIa), while type IIb is characterized by the additional appearance of neurocutaneous manifestations without primary hyperparathyroidism. Characteristics shared by these syndromes include the involved cell type, most of the tumors are composed of one or more specific polypeptide- and biogenic amine-producing cell types (APUD--amine precursor uptake and decarboxylation). The second characteristic is the increased incidence in certain families. The hereditary component is autosomal dominant with variable expression but high penetrance. Mechanisms of tumorigenesis differ in these syndromes. While men I is caused by an inherited mutation of a tumor suppressor gene, menin, located on the long arm of chromosome 11, men II is caused by activation of the RET proto-oncogene. We have reported the case of a young man exhibiting bilateral pheochromocytoma. In addition, the patient showed mild primary hyperparathyroidism and marfanoid habitus, all these stigmata usually being part of the men-II syndrome. Although this described patient showed a phenotypic mixture of the men-IIa and men-IIb syndrome, the genetic analysis for men II and von-Hippel-Lindau gene did not reveal any pathologic mutations, the endocrine disorders described here are not related to multiple endocrine neoplasia syndromes.- - - - - - - - - - ranking = 0.18660495867769keywords = gland (Clic here for more details about this article) |
3/12. A case of multiple endocrine neoplasia type 2b undiagnosed for many years despite its typical phenotype.We report the case of a 24-yr-old man with a typical phenotype of multiple endocrine neoplasia type 2b (men 2B). The patient had previously undergone minor surgery to remove multiple tumors on the lip, but he had no further examinations. men 2B was suspected owing to characteristic multiple ganglioneuromatosis when the patient presented with a goiter associated with high levels of plasma calcitonin and CEA. Aspiration biopsy cytology revealed medullary thyroid carcinoma (MTC), and abdominal computed tomography and nuclear scanning with metaiodobenzylguanidine revealed bilateral adrenomedullary tumors. Adrenomedullary function tests showed high levels of serum and urinary fractionated catecholamines, and genetic analysis showed a point mutation in the codon 918 (M918T) of the RET gene. The patient was diagnosed with men 2B and underwent right adrenalectomy and total thyroidectomy. No distant metastasis of the MTC was noted although men 2B had remained undiagnosed since the ganglioneuromatosis was first noticed. men 2B is a rare hereditary disorder, but the occurrence of characteristic ganglioneuromatosis was quite helpful in making the diagnosis.- - - - - - - - - - ranking = 1keywords = adrenal (Clic here for more details about this article) |
4/12. The significance of cystic adrenal lesions in multiple endocrine neoplasia IIB syndrome.Cystic adrenal lesions are common, but cystic pheochromocytomas are rare. In the setting of a cystic adrenal mass in a patient with multiple endocrine neoplasia syndrome (men) IIB, the diagnosis of pheochromocytoma must be considered. We report a 29-year-old woman with typical phenotype of men IIB (marfanoid habitus, thick blubbery lips, mucosal ganglioneuromas) and a history of medullary thyroid carcinoma. She presented with headaches, palpitations and tremors. Computed tomography revealed a left cystic adrenal mass. The likelihood of the lesion being a pheochromocytoma was thought to be low due to its cystic appearance. However, urine ephinephrine and metanephrine levels were elevated. She underwent a left adrenalectomy and histological examination revealed a cystic pheochromocytoma.- - - - - - - - - - ranking = 8keywords = adrenal (Clic here for more details about this article) |
5/12. Adrenal ganglioneuromas in children with multiple endocrine neoplasia type 2: a report of two cases.CONTEXT: Pheochromocytomas of the adrenal gland are a common component of the multiple endocrine neoplasia type 2 (MEN2) syndromes. However, pure adrenal ganglioneuromas, an extremely rare pediatric tumor of neural crest origin composed of mature ganglion cells, have never been reported in association with MEN2 in humans. MEN2A is comprised of medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia. MEN2B is characterized by MTC, pheochromocytoma, neural abnormalities of the gastrointestinal tract, and mucosal neuromas. EVIDENCE ACQUISITION: We report two pediatric patients, one with MEN2A and one with MEN2B, who developed isolated adrenal ganglioneuromas without evidence of pheochromocytomas. EVIDENCE SYNTHESIS: MEN2A and MEN2B are caused by activating mutations in the RET proto-oncogene, which encodes a tyrosine kinase receptor essential for signal transduction in neural crest-derived tissues, including the peripheral and enteric nervous systems, C cells of the thyroid gland, and chromaffin cells of the adrenal gland. Both pheochromocytomas and ganglioneuromas originate from neural crest cells. Interestingly, two mouse models of MEN2B exhibit adrenal ganglioneuroma formation. One mouse model develops only ganglioneuromas (but not pheochromocytomas) and expresses only one of the oncogenic RET isoforms. The other mouse model, created by site-directed mutagenesis to simulate the most common human mutation, develops both ganglioneuromas and pheochromocytomas. CONCLUSIONS: Given our two cases, our current understanding of the mouse models, and the common origins of all these tumor cell types, we recommend including ganglioneuromas as a rare, but not unexpected, component of the MEN2 syndromes.- - - - - - - - - - ranking = 5.2799074380165keywords = adrenal, gland (Clic here for more details about this article) |
6/12. iodine 123 metaiodobenzylguanidine radio-guided navigation surgery for recurrent medullary thyroid carcinoma in a girl with multiple endocrine neoplasia type 2b.multiple endocrine neoplasia type 2b (men 2B) is an inherited cancerous syndrome characterized by medullary thyroid carcinoma (MTC), adrenal pheochromocytoma, marfanoid habitus, and enteric ganglioneuromatosis. In this syndrome, a high frequency of persistent elevation of the serum calcitonin level, a sensitive marker for MTC, after total thyroidectomy has been reported, and the prognosis of such patients depends upon complete resection of recurrent MTC by repeated surgery. The authors performed iodine 123 metaiodobenzylguanidine ((123)I-MIBG) radio-guided navigation surgery for recurrent MTC in a 14-year-old girl with men 2B. She had undergone 4 neck operations, including total thyroidectomy at the age of 7 years. An intravenous injection of 100 MBq (123)I-MIBG was followed by the fifth surgery. At surgery, the cervical and upper mediastinal areas were filled with adhesional scar tissue, in which a gamma-scintillation probe conducted hot spots of isotope uptake by cancerous cells. Histopathology of resected specimens showed scattered nests of MTC cells corresponding to gamma-scintillation counts. Intraoperative (123)I-MIBG scanning is of substantial benefit for children with men 2B undergoing surgery for recurrent MTC.- - - - - - - - - - ranking = 1keywords = adrenal (Clic here for more details about this article) |
7/12. De novo multiple endocrine neoplasia type 2b with noncardiogenic pulmonary edema as the presenting symptom.Multiple endocrine neoplasia (men) type 2B is a rare hereditary disorder characterized by medullary thyroid carcinoma, pheochromocytoma, and neuroma. Early signs of men 2B are usually neuroma, gastrointestinal problems, and medullary thyroid carcinoma. Noncardiogenic pulmonary edema is rare as a presenting symptom. We report a 31-year-old male who was admitted to our hospital because of noncardiogenic pulmonary edema. He was 168 cm in height, weighed 55 kg, and had an arm span of 166 cm. No marfanoid habitus was evident, but thickened lips and tongue neuroma were present. Chronic constipation had been present since childhood, and the patient had a two-year history of untreated hypertension. Noncardiogenic pulmonary edema and toxic megacolon were noted, and abdominal computed tomography revealed bilateral adrenal tumors. ultrasonography of the thyroid showed two mass lesions. intubation and mechanical ventilation were performed because of severe hypoxemia. Endocrinological examinations showed high levels of serum and urinary fractionated catecholamines, serum calcitonin, serum carcinoembryonic antigen, and serum intact parathyroid hormone. It was suggested that the high level of catecholamine from pheochromocytoma had caused the pulmonary edema. RET gene analysis showed a codon 918 mutation in exon 16 resulting in an ATG (methionine) to ACG (threonine) substitution, but analysis of the patient's parents showed the wild type. Therefore, the patient was diagnosed as having de novo men 2B. He underwent laparoscopic bilateral adrenectomy and total thyroidectomy. However, the values of serum calcitonin and CEA did not decrease to the normal ranges. patients with early-stage men 2B have distinct characteristics that can aid early detection of the disease, thus possibly allowing them to be saved.- - - - - - - - - - ranking = 1keywords = adrenal (Clic here for more details about this article) |
8/12. The importance of early diagnosis in multiple endocrine neoplasia III: report of a case with thyroid C-cell hyperplasia.Multiple endocrine neoplasia III (men III), also known as men IIb or mucosal neuroma syndrome, can often be recognized at an early age by its typical facies, marfanoid habitus, and characteristic mucosal neuromas. These features are usually present before development of the more serious, life-threatening complications that consist of medullary thyroid carcinoma (MTC) and pheochromocytoma. MTC associated with men III is generally aggressive with early metastasis. early diagnosis is therefore crucial so that patients can be appropriately monitored for thyroid cancer with prompt thyroidectomy when indicated. Occasionally, patients present with C-cell hyperplasia of the thyroid, the histologic precursor to MTC. We describe a 16-year-old boy with mucosal neuromas, the typical facies of men III, gastrointestinal ganglioneuromatosis, and C-cell hyperplasia of the thyroid gland. Prompt thyroidectomy was performed, averting the risk of malignant transformation. Early clinical recognition of men III is crucial, as timely intervention can prevent the high mortality associated with MTC and pheochromocytoma.- - - - - - - - - - ranking = 0.093302479338843keywords = gland (Clic here for more details about this article) |
9/12. Malignant pheochromocytoma in multiple endocrine neoplasia type 2b syndrome. Case report and review of the literature.A malignant behavior (i.e., distant metastatic spread) has been recorded in 3-4% pheochromocytomas occurring in the context of multiple endocrine neoplasia type 2a syndrome, but has never been documented in patients with the type 2B form. In this report we describe a case of malignant pheochromocytoma arising in the latter syndrome setting. The patient, a white young male, had the full-blown syndrome, including multicentric, bilateral medullary thyroid carcinoma metastatic to regional lymph nodes, mucosal neuromas, digestive ganglioneuromatosis, marfanoid habitus, and bumpy lips. Three and a half years after surgical resection of an apparently benign adrenal pheochromocytoma he developed widespread osseous metastases. The presence of hypertensive crises and high urinary catecholamine excretion rates, coupled to moderate hypercalcitoninemia, normal circulating carcinoembryonic antigen levels, negative whole-body 99mTc-(V) dimercaptosuccinic acid scan, and absence of neck or mediastinal disease by magnetic resonance imaging, proved that the metastases were from his previous adrenal and not thyroid tumor. Furthermore, since the bone metastases strongly accumulated 131I-metaiodobenzylguanidine, several courses of the radiocompound were given, which resulted in an objective, though partial, tumor regression.- - - - - - - - - - ranking = 2keywords = adrenal (Clic here for more details about this article) |
10/12. iodine-131 MIBG imaging in multiple endocrine neoplasia type 2b.A 16-year-old boy had a swollen neck that was a result of multiple endocrine neoplasia type 2b (men 2B). CT revealed bilateral thyroid tumors, swelling of right cervical lymph nodes, and slight enlargement of the right adrenal gland. I-131 metaiodobenzylguanidine (MIBG) scintigraphy demonstrated increased uptake in the right adrenal gland and the left thyroid tumor, but no abnormal uptake in the right thyroid tumor and the right cervical lymph nodes. Postoperative pathologic findings were consistent with the diagnosis of right adrenal medullary hyperplasia, which is a precursor of pheochromocytoma. In patients with men 2B, I-131 MIBG scintigraphy in conjunction with CT of the adrenal glands should be performed to determine the disease stage of the adrenal medullae. In the cervical region, the diagnosis was medullary thyroid carcinoma (MTC) in both thyroid tumors and metastases in the right cervical lymph nodes. The right MTC was more aggressive than the left MTC. It is interesting that not all sites of known MTC take up I-131 MIBG to the same degree.- - - - - - - - - - ranking = 5.2799074380165keywords = adrenal, gland (Clic here for more details about this article) |
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