Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism

Surgery

Volumn 142, Issue 6, 2007, Pages 984-991

  Iacobone, Maurizio ^a   Barzon, Luisa ^a   Porzionato, Andrea ^a   Masi, Giulia ^a   Macchi, Veronica ^a   Marino, Filippo ^a   Viel, Giovanni ^a   Favia, Gennaro ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PARAFIBROMIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE FREE SURVIVAL; DISEASE MARKER; FEMALE; FOLLOW UP; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; PARATHYROID ADENOMA; PARATHYROID GLAND; PARATHYROIDECTOMY; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT DISEASE; REOPERATION; SURGICAL PATIENT; SURGICAL TECHNIQUE; SURVIVAL RATE; SURVIVAL TIME; TISSUE SECTION;

ADENOMA; ADOLESCENT; ADULT; BIOPSY; FEMALE; HUMANS; HYPERPARATHYROIDISM; MALE; MIDDLE AGED; PARATHYROID GLANDS; PARATHYROID NEOPLASMS; PARATHYROIDECTOMY; TUMOR MARKERS, BIOLOGICAL; TUMOR SUPPRESSOR PROTEINS;

EID: 36549013099     PISSN: 00396060     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.surg.2007.09.029     Document Type: Article

References (26)

1. Carling T., and Udelsman R. Parathyroid surgery in familial hyperparathyroid disorders. J Intern Med 257 (2005) 27-37
2. Cetani F., Pardi E., Borsari S., Viacava P., Dipollina G., Cianferotti L., et al. Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. J Clin Endocrinol Metab 89 (2004) 5583-5591
3. Carpten J.D., Robbins C.M., Villablanca A., Forsberg L., Presciuttini S., Bailey-Wilson J., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32 (2002) 676-680
4. Bradley K.J., Hobbs M.R., Buley I.D., Carpten J.D., Cavaco B.M., Fares J.E., et al. Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med 257 (2005) 18-26
5. Jackson C.E., Norum R.A., Boyd S.B., Talpos G.B., Wilson S.D., Taggart R.T., et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 108 (1990) 1006-1012
6. Howell V.M., Haven C.J., Kahnoski K., Khoo S.K., Petillo D., Chen J., et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 40 (2003) 657-663
7. Shattuck T.M., Valimaki S., Obara T., Gaz R.D., Clark O.H., Shoback D., et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 349 (2003) 1722-1729
8. Gill A.J., Clarkson A., Gimm O., Keil J., Dralle H., Howell V.M., et al. Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. Am J Surg Pathol 30 (2006) 1140-1149
9. Juhlin C., Larsson C., Yakoleva T., Leibiger I., Leibiger B., Alimov A., et al. Loss of parafibromin expression in a subset of parathyroid adenomas. Endocr Relat Cancer 13 (2006) 509-523
10. Bradley K.J., Cavaco B.M., Bowl M.R., Harding B., Cranston T., Fratter C., et al. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf) 64 (2006) 299-306
11. Barry M.K., van Heerden J.A., Grant C.S., Thompson G.B., and Khosla S. Is familial hyperparathyroidism a unique disease?. Surgery 122 (1997) 1028-1033
12. Huang S.M., Duh Q.Y., Shaver J., Siperstein A.E., Kraimps J.L., and Clark O.H. Familial hyperparathyroidism without multiple endocrine neoplasia. World J Surg 21 (1997) 22-28
13. Carneiro D.M., Irvin G.L., and Inabnet W.B. Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism. Surgery 132 (2002) 1050-1054
14. DeLellis R.A., Lloyd R.V., Heitz P.U., and Heng C. World Health Organization classification of tumours pathology and genetics: Tumours of endocrine organs (2004), IARC Press, Lyon (France)
15. Porzionato A., Macchi V., Barzon L., Masi G., Iacobone M., Parenti A., et al. Immunohistochemical assessment of parafibromin in mouse and human tissues. J Anat 209 (2006) 817-827
16. Iacobone M., Lumachi F., and Favia G. Up-to-date on parathyroid carcinoma: analysis of an experience of 19 cases. J Surg Oncol 88 (2004) 223-228
17. Iacobone M., Ruffolo C., Lumachi F., and Favia G. Results of iterative surgery for persistent and recurrent parathyroid carcinoma. Langenbecks Arch Surg 390 (2005) 385-390
18. Gimm O., Lorenz K., Nguyen Thanh P., Schneyer U., Bloching M., Howell V.M., et al. Das Familiäre Nebenschilddrüsenkarzinom. Indikation zur prophylaktischen Parathyreoidektomie?. Chirurg 77 (2006) 15-24
19. Evans D.B., Rich T.A., and Cote G.J. Surgical management of familial hyperparathyroidism. Ann Surg Oncol 14 (2007) 1525-1527
20. Guarnieri V., Scillitani A., Muscarella L.A., Battista C., Bonfitto N., Bisceglia M., et al. Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. J Clin Endocrinol Metab 91 (2006) 2827-2832
21. Kelly T.G., Shattuck T.M., Reyes-Mugica M., Stewart A.F., Simonds W.F., Udelsman R., et al. Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. J Bone Miner Res 21 (2006) 1666-1671
22. Mizusawa N., Uchino S., Iwata T., Tsuyuguchi M., Suzuki Y., Mizukoshi T., et al. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol (Oxf) 65 (2006) 9-16
23. Yamashita Y., Akiyama T., Mizusawa N., Yoshimoto K., and Goto M. A case of hyperparathyroidism-jaw tumour syndrome found in the treatment of an ossifying fibroma in the maxillary bone. Int J Oral Maxillofac Surg 36 (2007) 365-369
24. Villablanca A., Calender A., Forsberg L., Hoog A., Cheng J.D., Petillo D., et al. Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet 41 (2004) e32
25. Aldred M.J., Talacko A.A., Savarirayan R., Murdolo V., Mills A.E., Radden B.G., et al. Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 101 (2006) 212-218
26. Hellman P., Skogseid B., Juhlin C., Akerstrom G., and Rastad J. Findings and long-term results of parathyroid surgery in multiple endocrine neoplasia type 1. World J Surg 16 (1992) 718-722