Recent advances in multiple endocrine neoplasia type I

Current Opinion in Endocrinology and Diabetes

Volumn 5, Issue 1, 1998, Pages 35-39

  Teh, Bin Tean ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOHYPOPHYSIS; CANCER GENETICS; CORRELATION FUNCTION; EXON; FAMILIAL CANCER; GENE MUTATION; GENOTYPE; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; PANCREAS CANCER; PARATHYROID CARCINOMA; PHENOTYPE; REVIEW;

EID: 0002410098     PISSN: 10683097     EISSN: None     Source Type: Journal    
DOI: 10.1097/00060793-199802000-00007     Document Type: Review

References (43)

1. Hoff AO, Gagel RF: Multiple endocrine neoplasla types 1 and 2: phenotype, genotype, diagnosis, and therapeutic plan with special reference to children and adolescents. Curr Opin Endocrinol 1997, 4:91-99.
2. Giraud S, Choplin H, Teh BT, Lespinasse J, Jouvet A, Labat-Moleur F, • Lenoir G, Hamon B, Hamon P, Calender A: A large MEN1 family with clinical expression suggestive of anticipation. J Clin Endocrinol Metab 1997, 82:3487-3492. This report describes a unique MEN 1 family in which the earliest generations have very mild disease but subsequent generations develop early-onset, severe disease. It also demonstrates LOH of the wild-type alleles in a large spinal ependymoma in the family.
3. Darling TN, Skarulis MC, Steinberg SM, Marx SJ, Spiegel AM, Turner M: •• Multiple facial angioflbromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol 1997, 133:853-857. The authors described the histopathology and frequency of the cutaneous lesions found in 32 MEN 1 patients.
4. Dong Q, Debelenko LV, Chandrasekharappa SC, Emmert-Buck MR, Zhuang Z, Guru SC, Manickam P, Skarulis M, Lubensky IA, Liotta LA, et al.: Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinolds, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasla type 1. J Clin Endocrinol Metab 1997, 82:1416-1420.
5. Larsson C, Skogseid B, Öberg K, Nakamura Y, Nordenskjöld N: Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988, 332:85-87.
6. Teh BT, Cardinal J, Shepherd JJ, Hayward N, Weber G, Cameron D, Larsson C: Genetic mapping of the multiple endocrine neoplasia type 1 locus in 11q13. J Intern Med 1995, 238:249-253.
7. European Consortium on MEN1 : Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. Genomics 1996, 37:354-365.
8. Weber G, Friedman E, Grimmond S, Hayward N, Phelan C, Skogseid B, Gobi A, Zedenius J, Sandelin K, Teh BT, et al.: The phospholipase C β 3 gene located in the MEN1 region shows loss of expression In endocrine tumors. Hum Mol Genet 1994, 3:1775-1781.
9. Emmert-Buck MR, Lubensky IA, Dong Q, Manickam P, Guru SC, Kester MB, Olufemi SE, Agarwal S, Burns AL, Speigel AM, et al.: Localization of the multiple endocrine neoplasia type 1 (MEN1) gene based on tumor loss of heterozygosity analysis. Cancer Res 1997, 57:1855-1858.
10. Chandrasekharappa SC, Guru SC, Manickam P, Olufemi S-E, Collins F, •• Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, et al.: Positional cloning of the gene for multiple endocrine neoplasia type 1. Science 1997, 276:404-407. The landmark paper about the cloning of the MEN1 gene.
11. European Consortium on MEN1: Identification of the multiple endocrine •• neoplasia type 1 (MEN1) gene. Hum Mol Genet 1997, 6:1177-1183. A confirmative paper on the cloning of the MEN1 gene from a different group.
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13. European Consortium on MEN1: Construction of a 1.2-Mb sequence-• ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. Genomics 1997, 44:94-100. A good transcript map for those interested in the MEN1 region.
14. Agarwal SK, Kestsr MB, Debelenko LV, Heppner C, Emmert-Buck MR, •• Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, et al.: Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 1997, 6:1169-1175. The paper describes the mutations found in MEN 1 and sporadic MEN 1 with good discussions.
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28. Lubensky IA, Debelenko LV, Zhuang Z, Emmert-Buck MR, Dong Q, •• Chandrasekharappa S, Guru SC, Manickam P, Olufemi SE, Marx SJ, et al.: Allelic deletions on chromosome 11q13 in multiple tumors from individual MEN1 patients. Cancer Res 1996, 56:5272-5278. The authors describe different LOH patients from different clones of tumor cells from the same tumor.
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31. Teh BT, Famebo F, Kristoffersson U, Sundelin B, Cardinal J, Axelson R, • Yap A, Epstein M, Heath H III, Cameron D, et al.: Autosomal dominant primary hyperparathyroidism-jaw tumour syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild-type allele in renal hamartomas. J Clin Endocriol Metab 1996, 81:4204-4211. This paper describes the extended clinical features of the hyperparathyroidism-jaw tumor syndrome and first shows that the hyperparathyroidism-jaw tumor gene is a putative TSG.
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41. Zimering MB, Brandi ML, deGrange DA, Mark SJ, Steeten E, Katsumata N, Murphy PR, Sato Y, Friesen HG, Aurbach GP: Circulating fibroblast growth factor-like substance in familial multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 1990, 70:149-154.
42. Zimering MB, Katsumata N, Sato Y, Brandi ML, Aurbach GD, Marx SJ, Friesen HG: Increased basic fibroblast growth factor in plasma from multiple endocrine neoplasia type 1: relation to pituitary tumor. J Clin Endocrinol Metab 1993, 76:1182-1187.
43. Gnarra JR, Zhou SB, Merrill MJ, Wagner JR, Krumm A, Papavassiliou E, Oldfield EH, Klausner RD, Linehan WM: Post-transcriptional regulation of vascular endothelial growth factor mRNA by the product of the VHL tumor suppressor gene. Proc Natl Acad Sci U S A 1996, 88:8405-8409.