|
1
|
Chandrasekharappa SC, Guru SC, Manickam P,
Olufemi SE, Collins FS, 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. 276:404–407. 1997.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Wermer P: Genetic aspects of adenomatosis
of endocrine glands. Am J Med. 16:363–371. 1954. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Trump D, Farren B, Wooding C, Pang JT,
Besser GM, Buchanan K, Edwards CR, Heath DA, Jackson CE, Jansen S,
et al: Clinical studies of multiple endocrine neoplasia type 1
(MEN1). QJM. 89:653–669. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Agarwal SK, Guru SC, Heppner C, Erdos MR,
Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS,
Spiegel AM, et al: Menin interacts with the AP1 transcription
factor JunD and represses JunD-activated transcription. Cell.
96:143–152. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Heppner C, Bilimoria KY, Agarwal SK,
Kester M, Whitty LJ, Guru SC, Chandrasekharappa SC, Collins FS,
Spiegel AM, Marx SJ and Burns AL: The tumor suppressor protein
menin interacts with NF-kappaB proteins and inhibits
NF-kappaB-mediated transactivation. Oncogene. 20:4917–4925. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Kaji H, Canaff L, Lebrun JJ, Goltzman D
and Hendy GN: Inactivation of menin, a Smad3-interacting protein,
blocks transforming growth factor type beta signaling. Proc Natl
Acad Sci USA. 98:pp. 3837–3842. 2001; View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Ospina N Singh, Sebo TJ, Thompson GB,
Clarke BL and Young WF Jr: Prevalence of parathyroid carcinoma in
348 patients with multiple endocrine neoplasia type 1-case report
and review of the literature. Clin Endocrinol (Oxf). Dec
31–2014.(Epub ahead of print).
|
|
8
|
Christakis IA, Busaidy NL, Cote GJ,
Williams MD, Hyde SM, Figueroa AM Silva, Kwatampora LJ, Clarke CN,
Qiu W, Lee JE and Perrier ND: Parathyroid carcinoma and atypical
parathyroid neoplasms in MEN1 patients; A clinico-pathologic
challenge. The MD Anderson case series and review of the
literature. Int J Surg. 31:10–16. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Marcocci C, Cetani F, Rubin MR, Silverberg
SJ, Pinchera A and Bilezikian JP: Parathyroid carcinoma. J Bone
Miner Res. 23:1869–1880. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Campennì A, Ruggeri RM, Sindoni A,
Giovinazzo S, Calbo L, Ieni A, Monaco M, Tuccari G, Benvenga S and
Baldari S: Parathyroid carcinoma as a challenging diagnosis: Report
of three cases. Hormones (Athens). 11:368–376. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Guarnieri V, Battista C, Muscarella LA,
Bisceglia M, De Martino D, Baorda F, Maiello E, D'Agruma L,
Chiodini I, Clemente C, et al: CDC73 mutations and parafibromin
immunohistochemistry in parathyroid tumors: Clinical correlations
in a single-centre patient cohort. Cell Oncol (Dordr). 35:411–422.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Carpten JD, Robbins CM, Villablanca A,
Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders
EM, Kennedy AM, Chen JD, et al: HRPT2, encoding parafibromin, is
mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet.
32:676–680. 2002. View
Article : Google Scholar : PubMed/NCBI
|
|
13
|
Newey PJ, Bowl MR and Thakker RV:
Parafibromin-functional insights. J Int Med. 266:84–98. 2009.
View Article : Google Scholar
|
|
14
|
Burgess JR, Nord B, David R, Greenaway TM,
Parameswaran V, Larsson C, Shepherd JJ and Teh BT: Phenotype and
phenocopy: The relationship between genotype and clinical phenotype
in a single large family with multiple endocrine neoplasia type 1
(MEN 1). Clin Endocrinol (Oxf). 53:205–211. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Cardinal JW, Bergman L, Hayward N, Sweet
A, Warner J, Marks L, Learoyd D, Dwight T, Robinson B, Epstein M,
et al: A report of a national mutation testing service for the MEN1
gene: Clinical presentations and implications for mutation testing.
J Med Genet. 42:69–74. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Teh BT, Zedenius J, Kytölä S, Skogseid B,
Trotter J, Choplin H, Twigg S, Farnebo F, Giraud S, Cameron D, et
al: Thymic carcinoids in multiple endocrine neoplasia type 1. Ann
Surg. 228:99–105. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Mastroianno S, Torlontano M, Scillitani A,
D'Aloiso L, Verrienti A, Bonfitto N, De Bonis A, D'Agruma L,
Muscarella LA, Guarnieri V, et al: Coexistence of multiple
endocrine neoplasia type 1 and type 2 in a large Italian family.
Endocrine. 40:481–485. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Cetani F, Pardi E, Giovannetti A, Cerrai
P, Borsari S, Vignali E, Picone A, Cianferotti L, Miccoli P,
Pinchera A and Marcocci C: Six novel MEN1 gene mutations in
sporadic parathyroid tumors. Hum Mut. 16:4452000. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Canaff L, Vanbellinghen JF, Kaji H,
Goltzman D and Hendy GN: Impaired transforming growth factor-β
(TGF-β) transcriptional activity and cell proliferation control of
a menin in-frame deletion mutant associated with multiple endocrine
neoplasia type 1 (MEN1). J Biol Chem. 287:8584–8597. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Kelley LA, Mezulis S, Yates CM, Wass MN
and Sternberg MJ: The Phyre2 web portal for protein modelling,
prediction and analysis. Nat Protoc. 10:845–858. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Feldman AT and Wolfe D: Tissue processing
and hematoxylin and eosin staining. Methods Mol Biol. 1180:31–43.
2014. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Lemos MC and Thakker RV: Multiple
endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations
reported in the first decade following identification of the gene.
Hum Mut. 29:22–32. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Concolino P, Costella A and Capoluongo E:
Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new
germline variants reported in the last nine years. Cancer Genet.
209:36–41. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
World Health Organization Classification
of Tumours, . Pathology and Genetics of Tumours of Endocrine
Organs. 3rd. IARC press; 2004
|
|
25
|
Schantz A and Castleman B: Parathyroid
carcinoma. A study of 70 cases. Cancer. 31:600–605. 1973.
View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Canaff L, Vanbellinghen JF, Kanazawa I,
Kwak H, Garfield N, Vautour L and Hendy GN: Menin missense mutants
encoded by the MEN1 gene that are targeted to the proteasome:
Restoration of expression and activity by CHIP siRNA. J Clin
Endocrinol Metab. 97:E282–E291. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Yokoyama A, Wang Z, Wysocka J, Sanyal M,
Aufiero DJ, Kitabayashi I, Herr W and Cleary ML: Leukemia
proto-oncoprotein MLL forms a SET1-like histone methyltransferase
complex with Menin to regulate Hox gene expression. Mol Cell Biol.
24:5639–5649. 2014. View Article : Google Scholar
|
|
28
|
Campennì A, Giovinazzo S, Pignata SA, Di
Mauro F, Santoro D, Curtò L, Trimarchi F, Ruggeri RM and Baldari S:
Association of parathyroid carcinoma and thyroid disorders: A
clinical review. Endocrine. Oct 15–2016.(Epub ahead of print).
|
|
29
|
Thakker RV, Newey PJ, Walls GV, Bilezikian
J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F and Brandi
ML: Endocrine Society: Clinical practice guidelines for multiple
endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab.
97:2990–3011. 2012. View Article : Google Scholar : PubMed/NCBI
|
