Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity

J. R. Farndon, G. S. Leight, W. G. Dilley, S. B. Baylin, Robert Christian Smallridge, T. S. Harrison, S. A. Wells

Research output: Contribution to journalArticle

239 Citations (Scopus)

Abstract

In an evaluation of 213 patients from 15 kindreds with familial medullary thyroid carcinoma (MTC), we detected 41 subjects from two kindreds (L and O) who had MTC but no extra-thyroidal manifestations (hyperparathyroidism, phaeochromocytomas or mucosal neuromas) of multiple endocrine neoplasia (MEN) type IIa or IIb. In screening 178 members of the L and O kindreds, we found no evidence that any of them had died from MTC. To assess whether the malignancy was relatively indolent in these families, 20 selected subjects from the two kindreds were compared with 33 MEN IIa subjects. Both groups had clinically occult disease which was diagnosed biochemically by documenting elevated plasma calcitonin (CT) levels following stimulation with intravenous calcium and pentagastrin. There were no differences in the peak stimulated plasma CT levels at the time of diagnosis (1055 ± 236 pg/ml versus 1096 ± 191 pg/ml) or the incidence of regional lymph node metastases (0/20 versus 1/33) in the two groups. The mean age at diagnosis, however, was significantly higher in patients of the L and O kindreds than in patients with MEN IIa (43.1 ± 3.4 years versus 21.1 ± 2.2 years; P < 0.001) indicating that in the two kindreds the MTC either developed at a later age or grew more slowly. This study demonstrates that MTC may occur in a familial pattern distinct from its presentation as MEN IIa or MEN IIb. In this setting it appears to be the least aggressive form of MTC yet described.

Original languageEnglish (US)
Pages (from-to)278-281
Number of pages4
JournalBritish Journal of Surgery
Volume73
Issue number4
StatePublished - 1986
Externally publishedYes

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Multiple Endocrine Neoplasia
Calcitonin
Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2a
Neuroma
Pentagastrin
Hyperparathyroidism
Pheochromocytoma
Lymph Nodes
Medullary Thyroid cancer
Familial medullary thyroid carcinoma
Neoplasm Metastasis
Calcium
Incidence
Neoplasms

ASJC Scopus subject areas

  • Surgery

Cite this

Farndon, J. R., Leight, G. S., Dilley, W. G., Baylin, S. B., Smallridge, R. C., Harrison, T. S., & Wells, S. A. (1986). Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity. British Journal of Surgery, 73(4), 278-281.

Familial medullary thyroid carcinoma without associated endocrinopathies : A distinct clinical entity. / Farndon, J. R.; Leight, G. S.; Dilley, W. G.; Baylin, S. B.; Smallridge, Robert Christian; Harrison, T. S.; Wells, S. A.

In: British Journal of Surgery, Vol. 73, No. 4, 1986, p. 278-281.

Research output: Contribution to journalArticle

Farndon, JR, Leight, GS, Dilley, WG, Baylin, SB, Smallridge, RC, Harrison, TS & Wells, SA 1986, 'Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity', British Journal of Surgery, vol. 73, no. 4, pp. 278-281.
Farndon, J. R. ; Leight, G. S. ; Dilley, W. G. ; Baylin, S. B. ; Smallridge, Robert Christian ; Harrison, T. S. ; Wells, S. A. / Familial medullary thyroid carcinoma without associated endocrinopathies : A distinct clinical entity. In: British Journal of Surgery. 1986 ; Vol. 73, No. 4. pp. 278-281.
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