Familial medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma (Sipple's syndrome)Study of a kindred

Catàlona, William J.; Engelman, Karl; Ketcham, Alfred S.; Hammond, William G.

doi:10.1002/1097-0142(1971)28:5<1245::aid-cncr2820280523>3.0.co;2-e

Cited by 32 publications

(4 citation statements)

References 44 publications

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“…Until now it ' h a been commonly accepted that in its familial form MCT is inherited as an autosomal dominant trait with a relatively high degree of penetrance (3, 6,8,19,20,23,24,31,32). In the present study, at least one family (of probands nos 46 and 54) and possible one other (of proband no 12) fit in with such a pattern.…”

Section: Discussionsupporting

confidence: 58%

Medullary Thyroid Carcinoma in Norway

Normann

1977

Acta Pathologica Microbiologica Scandinavica Section A Patholog

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Fifty‐four primary cases of medullary carcinoma of the thyroid (MCT) traced in Norway, 1960–74, were studied. The mean annual incidence rate was 0.1 per 100,000; the frequency of the tumour among all thyroid carcinomas registered in Norway was 3.4 per cent. The study of the geographical distribution of cases revealed a significantly higher proportion in rural than in urban areas, and in coastal as compared with inland counties. There was also an unexpected accumulation of cases in a few sparsely inhabited valleys in the southern and western part of the country. The familial occurrence of the disease was investigated by means of the family history, pedigree studies and measurement of immuno‐reactive calcitonin (iCT) in serum of relatives. The family history was found to be of limited value in discriminating between familial and sporadic cases. Family screening with serum calcitonin measurements revealed hypercalcitoninemia in relatives of 4 probands, 2 of which were apparently sporadic. Through pedigree studies it became evident that 15 probands were distantly releated to one or two of the others, and the study of grandparents' origin revealed that 16 additional probands had one or more grandparents originating in the same rural municipality as the grandparents of at least one of the others. The high degree of inbreeding in these areas makes it possible that some, if not all, of these 16 probands in fact are genetically related. The pattern of inheritance was in one, possibly in two kindreds, consistent with autosomal dominance. In three other kindreds an autosomal recessive trait is discussed. The familial and also the geographical relationships demonstrated in the other probands may also be an expression of genetic etiology. The nature of this is not clear, but it does not fit in with simple Mendelian inheritance.

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Section: Discussionsupporting

confidence: 58%

Medullary Thyroid Carcinoma in Norway

Normann

1977

Acta Pathologica Microbiologica Scandinavica Section A Patholog

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“…Other investigators have reported frequent simultaneous occurrence of these two endocrine tumors in adult bulls [22]. Sipple's syndrome of multiple endocrine neoplasms in man includes the coincidental occurrence of medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia or adenoma [4,12,15,161, possibly from a basic defect in the development or regulation of neuroectodermal derivatives [7]. The bulls with pheochromocytomas and C-cell neoplasms in this study did not have parathyroid disease like that reported in Sipple's syndrome.…”

Section: Discussionmentioning

confidence: 99%

Ultrastructural and Biochemical Evaluation of Adrenal Medullary Hyperplasia and Pheochromocytoma in Aged Bulls

Yarrington

Capen

1981

Vet Pathol

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Abstract. Pheochromocytomas and adrenal medullary hyperplasia were investigated ultrastructurally and by assaying catecholamines in tissue and urine. Three of seven bulls had concomitant thyroid C-cell neoplasms and normal parathyroid glands. Pheochromocytomas were either bilateral or unilateral, and were composed of large chromaffi cells predominantly in the storage phase of the secretory cycle. Two pheochromocytomas were composed of cells with ultrastructural characteristics of the epinephrine-secreting type and contained round secretory granules of low electron density. The norepinephrine-secreting type of chromaffi cell predominated in one pheochromocytoma and had storage granules with an electrondense, eccentric core and a wide submembranous space. Two pheochromocytomas were composed of a mixture of epinephrine-and norepinephrine-secreting cells. Adrenal medullary hyperplasia in four bulls consisted of multinodular or diffuse areas of hyperchromatic chromaffi cells that were non-encapsulated, and compressed adjacent cortical tissue. Tissue and urinary concentrations of norepinephrine were increased in bulls with adrenal medullary hyperplasia or pheochromocytoma, but urinary vanillylmandelic acid and unconjugated epinephrine levels were not different from those of control bulls with a normal adrenal medulla.An extensive survey of cattle at an abattoir showed that tumors of the adrenal gland usually occur in older cattle, and that pheochromocytomas are the second most common type of adrenal neoplasm [23]. A 6% incidence of pheochromocytomas was reported in 402 bulls, with no breed predilection [22] but with a significant coincidental occurrence of ultimobranchial (C-cell) tumors in the thyroid gland [ 1 11. It has been suggested that the simultaneous occurrence of medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia or adenoma in man represents a multicentric neoplastic transformation of cells of neural crest origin [4, 12,15, 161. During the development of certain familial syndromes of multiple endocrine neoplasms in man, the adrenal medulla undergoes nodular or diffuse hyperplasia before pheochromocytoma develops [3,7]. There have been few reports correlating ultrastructural findings with catecholamine assay of the proliferative lesions in the adrenal medulla that often develop in aged bulls. The objective of our study was to determine 316

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“…The current view on the patho-physiological relation between these two lesions is that of a secondary hyperparathyroidism developing to counteract the hypocalcaemic effect of excessive calcitonin production by the thyroid neoplasm (Schimke et al Steiner ut al. 1968;Bartlett et al 1971;Catalona et al 1971). Since an inverse feedback relationship exists between the serum calcium level and parathyroid hormone production, this may result in normocalcaemia, which is the most frequent finding in patients with medullary thyroid carcinoma.…”

Section: Discussionmentioning

confidence: 99%

Pathogenesis of C‐cell Neoplasia in Thyroid Gland

Ljungberg

Dymling

1972

Acta Pathologica Microbiologica Scandinavica Section A Patholog

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Hypertrophy and focal nodular hyperplasia with tumour‐like proliferation of the C‐cells was observed in thyroid tissue removed from a 64‐year‐old male with non‐toxic adenomatous goitre and primary hyperparathyroidism. The patient was found to have an enlarged parathyroid gland consisting exclusively of waterclear cells. It appeared likely that chronic hypercalcaemia had been responsible for the C‐cell proliferation. Morphological similarities between the thyroid change of the present case and the early stages of some forms of medullary thyroid carcinoma suggest that this neoplasm could arise from hyperplastic foci of C‐cells. It is emphasized that chronic hypercalcaemia may be one aetiological factor in human C‐cell neoplasia, including some types of medullary carcinoma. This implies that medullary carcinoma might have been secondarily induced by the parathyroid adenoma in some of those patients in whom both of these manifestations have been encountered.

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Familial medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma (Sipple's syndrome)Study of a kindred

Cited by 32 publications

References 44 publications

Medullary Thyroid Carcinoma in Norway

Medullary Thyroid Carcinoma in Norway

Ultrastructural and Biochemical Evaluation of Adrenal Medullary Hyperplasia and Pheochromocytoma in Aged Bulls

Pathogenesis of C‐cell Neoplasia in Thyroid Gland

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