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11/91. Simultaneously occurring liver metastases of pheochromocytoma and medullary thyroid carcinoma--a diagnostic pitfall with clinical implications for patients with multiple endocrine neoplasia type 2a.

    Malignant pheochromocytoma is an exceptional complication in patients with multiple endocrine neoplasia type 2a (MEN2a). In this paper, we report on a 53-year-old male patient with an evident RET gene germline mutation, who simultaneously developed hepatic metastases of medullary thyroid carcinoma (MTC) and pheochromocytoma. Comprehensive immunohistochemical investigations were performed to elaborate markers which could be useful for differentiating between MTC metastases and pheochromocytoma, respectively. calcitonin and CEA, in particular cytokeratins and trefoil factor family 1 (TFF1), were detectable exclusively in MTC, whereas all the other markers revealed a comparable expression in both MTC and pheochromocytoma. The only clues that could indicate a potential malignant course were size, a lack of sustentacular cells and hyaline globules, and a focal spindle cell pattern in pheochromocytoma. Owing to a wide agreement in cellular differentiation and a lack of specific, routinely applicable markers for pheochromocytomas, a comprehensive and goal-directed immunohistochemistry is required to rule out pheochromocytoma metastasis in patients with MEN2a. A misinterpretation could lead to harmful clinical complications, as shown in the present case. ( info)

12/91. Maxillary giant cell granuloma, pheochromocytoma, and hyperparathyroidism without medullary thyroid carcinoma.

    We examined a young man who had a benign giant cell granuloma of the maxilla, which we subsequently diagnosed as a brown tumor associated with hyperparathyroidism. During surgery for the granuloma, the patient developed severe hypertension and was discovered to have an extra-adrenal pheochromocytoma. Oncogene and calcitonin testing for medullary carcinoma of the thyroid was negative. Therefore, despite the presence of both pheochromocytoma and hyperparathyroidism, we concluded that this patient did not have multiple endocrine neoplasia type 2a. ( info)

13/91. Hereditary cancers in children and ethical and psychosocial implications.

    This article describes the application of genetic testing of children for hereditary cancers and the resultant ethical and psychosocial implications. Basic cancer genetics concepts are reviewed. Specific hereditary cancers that may affect children are described along with case examples and recommendations for nursing practice. ( info)

14/91. Ventricular thrombosis in Sipple's syndrome.

    An 18-year-old girl with multiple endocrine neoplasia type 2 (Sipple's syndrome) had a large intraventricular mass that proved to be a thrombus. She had no apparent precipitating factor for intracavitary thrombus formation. This is the first reported case of multiple endocrine neoplasia associated with ventricular thrombus. A hypercoagulable state resulting from catecholamine-induced and serotonin-induced platelet hyperaggregability might have been the causative mechanism. ( info)

15/91. Prophylactic thyroidectomy in the treatment of thyroid medullary carcinoma. Age for surgery?

    Since the association of RET proto-oncogene mutations and medullary thyroid carcinoma in children there has been much discussion regarding timing of surgery. Our study group was formed from a brother and sister (8 and 5) and 3 brothers (9, 13, 16) selected on the basis of a positive family history for thyroid medullary carcinoma. Histological examinations of the thyroidectomy specimens showed that the 8- and 9-year old had microinvasive carcinoma and the remaining three had C-cell hyperplasia. Our recommendation is for prophylactic thyroidectomy for children with RET proto oncogene mutations at an early age, clearly before age 5. ( info)

16/91. 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. ( info)

17/91. loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2a.

    We describe a patient affected by multiple endocrine neoplasia type 2a (men 2A) bearing a heterozygous germline mutation (Cys(634)Arg) in exon 11 and an additional somatic mutation of the RET protooncogene. A large intragenic deletion, spanning exon 4 to exon 16, affected the normal allele and was detected by quantitative PCR, Southern blot analysis, and screening of several polymorphic markers. This deletion causes RET loss of heterozygosity exclusively in the metastasis, thus suggesting a role for this second mutational event in tumor progression. No additional mutations were found in the other exons analyzed. We provide the first evidence that RET, a dominant oncogene, is affected by a germline mutation and by an additional somatic deletion of the wild-type allele. This unusual genetic profile may be related to the clinical course and very poor outcome. ( info)

18/91. Multiple endocrine neoplasia type iia: report of a family with a study of three generations in qatar.

    OBJECTIVE: To study the pattern of multiple endocrine neoplasia type IIA (men IIA) and describe the clinical features and results of genetic testing and treatment in 21 members of the first reported family with men IIA in qatar. methods: After identification of the proband, we screened all her family members (21 members) with genetic testing for the RET proto-oncogene mutation. Those subjects with the mutation were further assessed for pheochromocytoma by measurement of the 24-hour urinary vanillylmandelic acid, metanephrines, and catecholamines, and those with high levels underwent a metaiodobenzylguanidine scan and adrenalectomy. The serum calcium was measured in a effort to detect hyperparathyroidism. Those family members who had the mutation and were eligible for surgical treatment underwent total thyroidectomy and central compartment dissection. In those patients with high postoperative calcitonin levels, residual disease was sought with radiologic imaging, and follow-up was done with pentagastrin stimulation tests. RESULTS: Of the 21 family members screened, 10 had the RET proto-oncogene mutation (codon 634, TGC->GGC) (5 females and 5 males; 6 adults and 4 children). All the adults had bilateral medullary thyroid carcinoma (MTC); four of them had lymph node metastatic lesions, and one had metastatic involvement of the liver. Two adults had pheochromocytomas. Two family members were reported to have parathyroid hyperplasia, although both were normocalcemic. CONCLUSION: This family with men IIA showed classic mendelian autosomal dominant inheritance. All adult patients had MTC, two had pheochromocytomas, and two had parathyroid hyperplasia. Although one child had a high stimulated calcitonin level, the histopathologic findings were normal; another child with high stimulated calcitonin levels showed C-cell hyperplasia on histopathologic examination. ( info)

19/91. A large family with hereditary MTC: role of RET genetic analysis in differential diagnosis between men 2A and FMTC.

    Germline mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2a (men 2A), multiple endocrine neoplasia type 2b (men 2B) and familial medullary thyroid carcinoma (FMTC). In the absence of biochemical and/or clinical evidence of pheochromocytoma and hyperparathyroidism, patients with men 2A disease display the same phenotype of FMTC disease, although prognosis and clinical management in both affected and unaffected familial members are quite different. We studied a family with hereditary MTC, whose proband was referred to us because of enlarged cervical nodes and increased calcitonin serum levels 28 years after the total thyroidectomy for MTC. Cervical node dissection was carried out and subsequently the presence of MTC metastasis was histologically confirmed. A RET genomic mutation at codon 634 (TGC-->TTC) was identified in the proband and in seven out of 19 familial members studied. Accordingly, a hereditary disease was suggested. However, the strong association of RET mutation at codon 634 with the presence of pheochromocytoma in men 2 disease suggested a more rigorous management in all gene carriers. Indeed, during the follow-up pheochromocytoma was subsequently identified in the proband. This finding suggests that all families with a pedigree suggestive of FMTC should be regarded at risk from men 2A disease, at least when a critical mutation in the RET cysteine domain is detected. ( info)

20/91. Bilateral pheochromocytoma in pregnancy heralding multiple endocrine neoplasia syndrome IIA. A case report.

    BACKGROUND: Multiple endocrine neoplasia syndrome type IIA (men IIA) has rarely been encountered in pregnancy. CASE: A 22-year-old, nulliparous woman developed bilateral pheochromocytomas during pregnancy. This finding aroused suspicion for men IIA, and close endocrinologic follow-up was arranged. Four years later, hyperparathyroidism developed, and the diagnosis was established. The patient underwent prophylactic total thyroidectomy with parathyroid exploration. CONCLUSION: This was the first case of men IIA in pregnancy in which the diagnosis was established prior to the development of medullary thyroid cancer, thereby allowing prophylactic thyroidectomy. The presence of bilateral neoplastic disease in young patients may be indicative of a hereditary predisposition to malignancy. ( info)
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