1/53. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2b: implications for treatment.Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2b (men 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite no obvious thyroid masses and normal calcitonin concentrations, but microscopic multifocal medullary carcinoma was found on histological examination. Early recognition of intestinal ganglioneuromatosis with germline RET M918T mutation in pseudo-Hirschsprung's disease is an indication for prophylactic thyroidectomy.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/53. Colonic manifestations of multiple endocrine neoplasia type 2b: report of four cases.multiple endocrine neoplasia type 2b is best known for its endocrine manifestations and typical phenotype. The gastrointestinal manifestations, however, are also an important and commonly unrecognized component of the syndrome. We present four cases that demonstrate the varied presentation of patients with colonic manifestations of multiple endocrine neoplasia type 2b. We discuss the cause, diagnostic significance, and management of the colonic disease that is a component of multiple endocrine neoplasia type 2b.- - - - - - - - - - ranking = 1.6keywords = endocrine (Clic here for more details about this article) |
3/53. Mild gait abnormality and leg discomfort in a child secondary to extradural ganglioneuroma.Ganglioneuromas are benign and slow-growing tumors that most commonly originate from the sympathetic trunk. Ganglioneuromas often decrease in size and rarely require reoperation. Changes in gait or the onset of limb pain without a discernible local cause are indications for investigation of patients for possible intraspinal pathology. We report the case of a 5-year-old boy who presented with seemingly static symptoms, while the slow-growing tumor had enveloped nerve roots and caused bone destruction of the vertebrae.- - - - - - - - - - ranking = 9.4487525196997E-5keywords = bone (Clic here for more details about this article) |
4/53. 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 = endocrine (Clic here for more details about this article) |
5/53. Olfactory neuroblastoma with epithelial and endocrine differentiation transformed into ganglioneuroma after chemoradiotherapy.We report a 56-year-old man in whom an olfactory neuroblastoma with epithelial and endocrine differentiation transformed into a mature ganglioneuroma after chemoradiotherapy. The tumor arising from the sphenoidal and maxillary sinuses showed rapid growth into the frontal lobe and metastasis to the cervical lymph nodes. The patient showed signs of a syndrome of inappropriate secretion of antidiuretic hormone (SIADH). A radical craniofacial resection of the primary tumor was performed after 16 Gy of local irradiation and systemic chemotherapy. Three months after the operation, the patient died of mediastinal metastasis. The biopsy before chemoradiotherapy showed a neuroblastoma with Homer-Wright rosettes, fibrillary matrix, Flexner-Wintersteiner rosettes and antidiuretic hormone production. After chemoradiotherapy, the histology changed to that of a ganglioneuroma consisting of large ganglion cells and schwann cells without immature neuroblastoma components. Although transformation to ganglioneuroma in an adrenal neuroblastoma is common, an olfactory neuroblastoma showing ganglioneuronal maturation after chemoradiotherapy has not been reported. The pluripotent progenitor cells of the olfactory neurons may be the origin and their existence explains why various neoplasms with neuronal and epithelial differentiation arise from the olfactory mucosa.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
6/53. Multiple endocrine neoplasia type two B. A case report with light and electron microscopic and immunohistochemical correlation.PURPOSE: To describe a case of multiple endocrine neoplasia type two B (men IIB) where ocular and systemic clinicopathological findings are correlated, in association with light and electron microscopic and immunohistochemical findings. methods: A 23-year-old man presented with mucosal neuromas of the lips, tongue and eyelids, a Marfanoid habitus and prominent corneal nerves. These findings led to the diagnosis of multiple endocrine neoplasia type two B. The patient subsequently developed phaeochromocytoma and metastatic medullary thyroid carcinoma (MTC) which led to his demise. Correlation of light and electron microscopic and immunohistochemical findings with the systemic and ocular findings is presented to emphasise the aggressiveness of MTC in men IIB. Clinicopathological correlation was obtained by examining the eyes post mortem. RESULTS AND CONCLUSIONS: Three new findings in men IIB have been established by this study. The enlarged corneal nerves can now be regarded as ganglioneuromas. Medullary thyroid carcinoma metastases were found in the choroid. light and electron microscopic examination of the eye showed ganglioneuromas of the nerves in the limbus, trabecular meshwork, uveal tract and posterior ciliary nerves; this finding may account for the glaucoma occasionally seen in patients with men IIB.- - - - - - - - - - ranking = 1.2keywords = endocrine (Clic here for more details about this article) |
7/53. myelolipoma associated with adrenal ganglioneuroma.Adrenal myelolipomas are rare, benign mesenchymal tumors composed of mature adipose tissue and hematopoietic cells in varying proportions. Although the majority of cases occur as isolated adrenal lesions, myelolipomas have been described in association with various adrenal pathologic conditions. These conditions include enzyme deficiencies and hyperplastic and neoplastic lesions of the adrenal cortex, with perhaps endocrine dysfunction as a common feature. ganglioneuroma is a benign tumor of the sympathetic nervous system that rarely produces symptoms of endocrine dysfunction. We report an unusual case of myelolipoma associated with ganglioneuroma of the adrenal medulla. The histogenesis of myelolipoma remains speculative. However, the close proximity to adrenal cortical cells within the stroma of ganglioneuroma suggests that the hormonal microenvironment may have played a role in the development of the myelolipoma.- - - - - - - - - - ranking = 0.4keywords = endocrine (Clic here for more details about this article) |
8/53. Intracranial ganglioneuromas in children.Two cases of tumours of the sellar and suprasellar region in children, manifested clinically by visual and endocrine disturbances, are reported. In both cases surgical removal of the intracranial tumour was performed. The histological diagnosis was central ganglioneuroma, an extremely rare tumour in children. Also worthy of note was the altogether exceptional location in these children of central ganglioneuromas in the sellar and suprasellar region.- - - - - - - - - - ranking = 0.2keywords = endocrine (Clic here for more details about this article) |
9/53. Adrenal ganglioneuroma in a patient presenting with severe hypertension and diarrhea.Ganglioneuromas (GNs) are neural crest cell-derived tumors and rarely occur in the adrenal gland. There are presently no markers that can reliably distinguish benign and malignant neuroendocrine tumors. Here we describe a 63-year-old woman who developed sudden chest pain and hypertension combined with increased stool frequency. An incidental adrenal mass 5 cm in size with a bright signal on T2-weighted magnetic resonance imaging was discovered. Biochemical evaluation and (131)I-metaiodobenzylguanidine (MIBG) scintigraphy were negative. Histopathological examination revealed a mature adrenal GN. neuroblastoma, the immature form of a GN, is known for deletions on chromosomal locus 1p36, and adrenal tumors frequently show allele loss on 17p. To further elucidate the histo- and pathogenesis of adrenal GN, we performed loss of heterozygosity studies on chromosomal loci 1p34-36 and 17p13 (the p53 gene locus) after careful microdissection of tumor and normal tissue. We did not detect allelic losses at these loci with the informative polymorphic markers used, suggesting that these loci are not involved in tumorigenesis. In addition, immunohistochemical investigation of the GN was positive for vasoactive intestinal peptide, a hormone commonly expressed in ganglion cells. We suggest that in our patient with an adrenal GN, the combination of biochemical, scintigraphic, molecular, immunohistochemical, and histopathological findings are all consistent with the benign morphology of this tumor.- - - - - - - - - - ranking = 0.2keywords = endocrine (Clic here for more details about this article) |
10/53. Central pancreatectomy for the resection of benign or low malignant potential neoplasms.Central pancreatectomy is an uncommonly performed procedure that may be particularly useful for the removal of benign and low malignant potential lesions in the neck and body of the pancreas. This procedure may have fewer major complications and better preserve endocrine and exocrine function than the more commonly performed pancreaticoduodenectomy or distal pancreatectomy. We report our recent experience with central pancreatectomy and review the literature on this topic.- - - - - - - - - - ranking = 0.2keywords = endocrine (Clic here for more details about this article) |
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