1/186. Spiraling out of control: one case of pathologic anxiety as a response to a genetic risk of cancer.The threat of cancer can result in an existential crisis characterized by feelings of uncertainty and fear. anxiety, the most common response to the threat of cancer, may be expressed in ways as varied as individual personalities and circumstances. It is a normal response to the threat of cancer, but in some it may deteriorate to pathologic anxiety and manifest somatic or avoidant patterns. Members of families diagnosed with genetic mutations that predispose to cancer are unique in that they experience a complex chain of life events. People affected with genetic mutations that increase the risk for the development of cancer may be at greater risk of manifesting abnormal anxiety. Little research exists that can guide the health professional in meeting the needs of these individuals, which leads health practitioners to approach their needs on the basis of combined theoretical assumptions about the needs of people with cancer, people who have family members with cancer, and people with recurrent cancer. Some factors may be assessed by the health professional as an aid in identifying an individual at increased risk of developing a psychopathology. These factors include age and developmental level, existence of a previous psychologic disorder, and family integrity. Advanced practice nurses may effectively intervene in the care of these patients by (a) accurately assessing the risk for and extent of the anxiety reaction in individuals and family members; (b) developing management plans that include ongoing support, education, psychotherapy, and pharmacotherapeutics for the individual; and (c) support and psychotherapy for the family. In this article, the pathologic anxiety experienced by one adolescent girl diagnosed with a genetic mutation that caused multiple endocrine neoplasia 2a is addressed, along with the treatment of her avoidant anxiety disorder--trichotillomania.- - - - - - - - - - ranking = 1keywords = neoplasia (Clic here for more details about this article) |
2/186. paraganglioma as a systemic syndrome: pitfalls and strategies.Tumours of the neuroendocrine system in the head and neck region are mostly paragangliomas of the glomus tympanicum or jugulare, or of the carotid body. The majority of these tumours are benign, and the coexistence of multiple paragangliomas seems to be rare. Pre-operative embolization and surgery are regarded as primary therapy for these tumours. The treatment regimen in any patient depends on age, general health, hearing status and the function of the lower cranial nerves. Several presentations are possible in which paragangliomas occur as systemic disease. 1. Paragangliomas may occur bilaterally, or, in rare cases, in multiple areas. Pre-operative bilateral angiography is of utmost importance. In case of multicentricity, it might be necessary to proceed without, or just with, unilateral surgery for preservation of adjacent structures. In surgery of jugular vein paraganglioma, we usually perform a modified transmastoidal and transcervical approach with preservation of middle-ear structures and the ossicles. As an alternative or supplement to surgery, radiotherapy or definitive embolization may be used in the treatment of paragangliomas. 2. Paragangliomas may occur as multiple endocrine neoplasia (MEN) syndrome combined with medullary thyroid gland carcinoma, and, facultatively, pheochromocytoma. In these cases, endocrinological examination and magnetic resonance imaging (MRI) of the adrenal region, the thorax and the neck are required for an adequate therapeutic strategy. As MEN may be inherited, family history should be evaluated. 3. Paragangliomas can became malignant and metastasize. Thus, cervical lymph node metastases or distant metastases may occur. We recommend the removal of all ipsilateral lymph nodes and their histological examination.- - - - - - - - - - ranking = 1keywords = neoplasia (Clic here for more details about this article) |
3/186. The relationship of the serum gastrin and calcium concentrations in patients with multiple endocrine neoplasia type I.The relationship between the serum gastrin and calcium concentrations has been examined in patients with multiple endocrine neoplasia type I. Variations in gastrin concentrations were induced by metiamide and secretin; calcium concentrations were altered by parathyroidectomy and by calcium infusion. Changes in the serum gastrin concentrations were not accompanied by changes in the serum calcium concentration. However, alteration of the serum calcium was accompanied by significant parallel changes in the serum gastrin. It is concluded that acute changes in the serum calcium may induce changes in the serum gastrin. parathyroidectomy in these patients produced a fall in the serum gastrin, but the ability to produce large quantities of gastrin remains. It is postulated that the thyro-parathyroid hormones may modulate the relationship between calcium and gastrin.- - - - - - - - - - ranking = 5keywords = neoplasia (Clic here for more details about this article) |
4/186. 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 = 6keywords = neoplasia (Clic here for more details about this article) |
5/186. A rare association between acromegaly and pheochromocytoma.The occurrence of multiple endocrine tumors is rare; however, they may be found with hereditary diseases such as multiple endocrine neoplasia (MEN). The endocrine tumors involved with these diseases are well documented. We present a case of a patient with a pheochromocytoma and a growth hormone (GH) secreting pituitary adenoma. This association is not described with any of the known MEN syndromes. The association may be a cross-over MEN syndrome or a secondarily induced GH-secreting pituitary adenoma from a pheochromocytoma producing growth hormone releasing hormone (GHRH) instead of catecholamines.- - - - - - - - - - ranking = 1keywords = neoplasia (Clic here for more details about this article) |
6/186. Two tumors detected by thyroid assessment in two children.OBJECTIVE: To describe the early detection of two tumors in two children by recognition of unusual features in initial thyroid assessments. methods: We present the clinical findings and results of laboratory studies in two children. In addition, we describe RET proto-oncogene studies in one of them. RESULTS: A 14.5-year-old boy was referred for assessment because of short stature in conjunction with lack of physical growth and development. His physical examination was remarkable for height at the 50th percentile (height age, 11.5 years), weight at the 50th percentile (weight age, 13 years), and prepubertal male status. Pertinent laboratory findings were a normal thyroid-stimulating hormone (TSH) level but low free thyroxine (FT4) index. These findings prompted an immediate magnetic resonance imaging study of the head. A parasellar tumor was detected and removed; histopathologic examination revealed that it was a craniopharyngioma. The patient requires lifelong multihormonal therapy for his panhypopituitarism and has responded with physical growth. Our second patient, a 7.5-year-old girl, was referred because of a painless left thyroid nodule of 4 months' duration. Her physical examination was remarkable for (1) upper lip swelling, (2) intermittent rash, and (3) a goiter with painless mobile left and right nodules. Normal levels of TSH and FT4, serum calcitonin of 6,192 pg/mL, and a fine-needle biopsy specimen that stained strongly for calcitonin were obtained at her first clinic visit. A total thyroidectomy was performed and confirmed the presence of medullary thyroid carcinoma. Genetic studies showed that she was positive for the RET multiple endocrine neoplasia IIB mutation. After 4 years of follow-up, the patient had serum calcitonin levels that remained low (<2.2 pg/mL). CONCLUSION: attention to thyroid physical findings and laboratory studies can promptly lead to correct diagnoses and management of some rare and life-threatening tumors in children.- - - - - - - - - - ranking = 1keywords = neoplasia (Clic here for more details about this article) |
7/186. Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia.Prophylactic thyroidectomy is recommended for carriers of RET protooncogene mutations owing to their nearly complete penetrance for medullary thyroid carcinoma (MTC). However, this guideline is challenged by mutations exhibiting variable penetrance of C-cell pathology. A 38-year-old woman presented with pathologic basal and pentagastrin-stimulated calcitonin levels. Genetic analysis revealed a heterozygous RET protooncogene germline mutation in codon 791 (exon 13) (TAT(Tyr)-->TTT(Phe)), followed by thyroidectomy and systematic central lymph node dissection. histology showed C-cell hyperplasia (CCH) only. Three additional carriers were identified among family members. The 71-year-old father refused surgery despite pathologic calcitonin levels. The index patient's 37-year-old sister had normal basal and stimulated calcitonin levels, and her 6-year-old son had a 10-fold rise of calcitonin after pentagastrin stimulation. Both patients underwent the same operation as the index patient. The sister had 25 hyperplastic C-cells, but the her son had extensive CCH without MTC. The eldest uncle of the index patient had died of metastatic MTC at the age of 52 with unknown carrier status. Despite variable penetrance, each carrier of a RET protooncogene germline mutation should undergo thyroidectomy, even if basal and stimulated calcitonin levels are normal because at present no test can exclude or predict the age of development of MTC. Moreover, pathologic calcitonin levels cannot differentiate between CCH and MTC. Central lymph node dissection is recommended, as lymph node metastases occur early, significantly worsening the prognosis.- - - - - - - - - - ranking = 4keywords = neoplasia (Clic here for more details about this article) |
8/186. Intractable pruritus associated with insulinoma in the absence of multiple endocrine neoplasia: a novel paraneoplastic phenomenon.insulinoma is a rare tumour, the main symptoms of which are related to hypoglycaemia. Generalized pruritus has been described in association with the multiple endocrine neoplasia syndrome (MEN II or Sipple's syndrome) as a paraneoplastic phenomenon. Further, pruritus is known to be part of the paraneoplastic syndrome in other solid tumours. This case describes a patient presenting with symptoms of Whipple's triad (hypoglycaemic symptoms during fasting, low fasting blood sugar levels and symptoms relieved by intravenous dextrose). Magnetic resonance scanning and selective mesenteric angiography demonstrated a probable pancreatic neuroendocrine tumour. Pituitary fossa imaging and endocrine profile excluded the MEN I syndrome. Symptoms resolved after surgical removal of the tumour. histology confirmed a pancreatic neuroendocrine tumour. The association between pruritus and insulinoma appears to be a novel paraneoplastic phenomenon.- - - - - - - - - - ranking = 5keywords = neoplasia (Clic here for more details about this article) |
9/186. hyperthyroidism due to inappropriate secretion of thyrotropin in 10 patients.PURPOSE: The syndrome of inappropriate thyroid-stimulating hormone (TSH) secretion, characterized by elevated serum free thyroxine and triiodothyronine levels in association with measurable serum TSH concentrations, remains an uncommon cause of hyperthyroidism that is being recognized with increasing frequency. The hyperthyroidism may be due to either neoplastic pituitary TSH secretion or selective pituitary resistance to thyroid hormone. In an effort to better understand this rare cause of hyperthyroidism, we undertook a retrospective analysis of our institution's experience with this condition. patients: We reviewed our cumulative experience (10 patients) with hyperthyroidism due to the syndrome of inappropriate secretion of TSH. RESULTS: Six patients were diagnosed with TSH-secreting pituitary adenomas and four were found to have selective pituitary resistance to thyroid hormone. One patient with tumor had a TSH-secreting pituitary adenoma in the setting of multiple endocrine neoplasia syndrome. In all patients with tumor, hyperthyroidism was successfully treated with transsphenoidal adenomectomy with or without pituitary radiotherapy. All four patients with pituitary resistance had thyroid ablation or resection prior to their correct diagnosis. Therefore, therapy for this group of patients involved thyroid hormone replacement and efforts to suppress TSH hypersecretion. All 10 patients have done well clinically, with follow-up ranging from 2 weeks to 13 years. CONCLUSIONS: Adequate treatment exists for the two primary causes of TSH hypersecretion. TSH-secreting pituitary adenomas are treated with surgery and, if necessary, adjuvant pituitary radiotherapy. The results are generally good if the tumor is diagnosed and treated at an early stage. Primary therapy for hyperthyroidism due to selective pituitary resistance to thyroid hormone is aimed at suppression of pituitary TSH hypersecretion. The evaluation of any patient with hyperthyroidism must be thorough and, in some cases, should include measurement of TSH to determine the presence of inappropriate secretion. Eliminating this diagnosis will help avoid improper and potentially harmful treatment of hyperthyroid patients.- - - - - - - - - - ranking = 1keywords = neoplasia (Clic here for more details about this article) |
10/186. Ovarian strumal carcinoid in association with multiple endocrine neoplasia, type IIA.Strumal carcinoid is an unusual form of monodermal ovarian teratoma with thyroid-like follicles admixed with typical carcinoid tumor patterns. We encountered a case of this neoplasm in a patient with multiple endocrine neoplasia, type IIA (Sipple's syndrome), including a medullary thyroid carcinoma diagnosed 24 years previously. During evaluation of bilateral adrenal pheochromocytomas, a unilateral left ovarian strumal carcinoid was discovered. Subsequently, the patient had a parathyroid adenoma excised. The ovarian tumor was immunohistochemically reactive for neuron-specific enolase, chromogranin, synaptophysin, and serotonin, but did not stain for calcitonin. The follicular structures stained for thyroglobulin. This unusual case shows that ovarian strumal carcinoid, like carcinoid tumors at other sites, may arise in association with multiple endocrine neoplasia.- - - - - - - - - - ranking = 6keywords = neoplasia (Clic here for more details about this article) |
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