Abstract
This report describes the clinical and cytogenetic analysis of a kindred with multiple endocrine neoplasia type 2 (MEN-2 or Sipple's syndrome) in two generations. Medullary thyroid carcinoma was present in five members either as a large or as an occult tumour. Phaeochromocytoma was demonstrated in one severely hypertensive relative and urine vanillylmandelic acid (VMA) was increased in one normotensive member. Serum parathormone (PTH) was normal in all but one normocalcaemic patient of this family who did not have a history of nephrolithiasis. Prometaphase banding failed to detect a 20p12.2 deletion or chromosome instability as observed in some MEN-2 families.
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- Arnaud C. D., Tsao H. S., Littledike T. Radioimmunoassay of human parathyroid hormone in serum. J Clin Invest. 1971 Jan;50(1):21–34. doi: 10.1172/JCI106476. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Chong G. C., Beahrs O. H., Sizemore G. W., Woolner L. H. Medullary carcinoma of the thyroid gland. Cancer. 1975 Mar;35(3):695–704. doi: 10.1002/1097-0142(197503)35:3<695::aid-cncr2820350323>3.0.co;2-w. [DOI] [PubMed] [Google Scholar]
- Egan M. L., Lautenschleger J. T., Coligan J. E., Todd C. W. Radioimmune assay of carcinoembryonic antigen. Immunochemistry. 1972 Mar;9(3):289–299. doi: 10.1016/0019-2791(72)90093-6. [DOI] [PubMed] [Google Scholar]
- Francke U., Holmes L. B., Atkins L., Riccardi V. M. Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet. 1979;24(3):185–192. doi: 10.1159/000131375. [DOI] [PubMed] [Google Scholar]
- Francke U., Oliver N. Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet. 1978 Dec 18;45(2):137–165. doi: 10.1007/BF00286957. [DOI] [PubMed] [Google Scholar]
- Heath H., 3rd, Sizemore G. W. Plasma calcitonin in normal man. Differences between men and women. J Clin Invest. 1977 Nov;60(5):1135–1140. doi: 10.1172/JCI108865. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hsu T. C., Pathak S., Samaan N., Hickey R. C. Chromosome instability in patients with medullary carcinoma of the thyroid. JAMA. 1981 Nov 6;246(18):2046–2048. [PubMed] [Google Scholar]
- Jackson C. E., Conneally P. M., Sizemore G. W., Tashjian A. H. Possible linear order of genes for endocrine neoplasia type 2, the P red cell antigen and HL-A on chromosome 6. Birth Defects Orig Artic Ser. 1976;12(1):159–164. [PubMed] [Google Scholar]
- Khairi M. R., Dexter R. N., Burzynski N. J., Johnston C. C., Jr Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3. Medicine (Baltimore) 1975 Mar;54(2):89–112. [PubMed] [Google Scholar]
- Melvin K. E., Tashjian A. H., Jr, Miller H. H. Studies in familial (medullary) thyroid carcinoma. Recent Prog Horm Res. 1972;28:399–470. [PubMed] [Google Scholar]
- PISANO J. J., CROUT J. R., ABRAHAM D. Determination of 3-methoxy-4-hydroxymandelic acid in urine. Clin Chim Acta. 1962 Mar;7:285–291. doi: 10.1016/0009-8981(62)90022-0. [DOI] [PubMed] [Google Scholar]
- Simpson N. E., Falk J. Exclusion of linkage between the loci for multiple endocrine neoplasia type-2 (MEN-2) and HLA. Hum Genet. 1982;60(2):157–157. doi: 10.1007/BF00569703. [DOI] [PubMed] [Google Scholar]
- Steiner A. L., Goodman A. D., Powers S. R. Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: multiple endocrine neoplasia, type 2. Medicine (Baltimore) 1968 Sep;47(5):371–409. doi: 10.1097/00005792-196809000-00001. [DOI] [PubMed] [Google Scholar]
- Wilson M. G., Ebbin A. J., Towner J. W., Spencer W. H. Chromosomal anomalies in patients with retinoblastoma. Clin Genet. 1977 Jul;12(1):1–8. doi: 10.1111/j.1399-0004.1977.tb00894.x. [DOI] [PubMed] [Google Scholar]