Atypical MEN Type 2B Associated with Two Germline RET Mutations on the Same Allele Not Involving Codon 918
Fred H. Menko,
Rob B. van der Luijt,
Irene A. J. de Valk,
Arno W. F. T. Toorians,
Jan M. Sepers,
Paul J. van Diest and
Cornelis J. M. Lips
Departments of Clinical Genetics and Human Genetics (F.H.M.), Pathology (P.J.v.D.), and Internal Medicine (A.W.F.T.T.), Vrije Universiteit Medical Center, 1007 MB Amsterdam, The Netherlands; Department of Internal Medicine (J.M.S.), Medical Center Alkmaar, Alkmaar, The Netherlands; and Departments of Medical Genetics (R.B.v.d.L., I.A.J.d.V.) and Internal Medicine (C.J.M.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands
Address all correspondence and requests for reprints to: Fred H. Menko, M.D., Ph.D., Department of Clinical Genetics and Human Genetics, Vrije Universiteit Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands. E-mail: fh.menko.humgen{at}med.vu.nl
A kindred was diagnosed with atypical MEN type 2B characterizedby medullary thyroid cancer and mucosal neurilemmomas in multiplefamily members. Mutation analysis revealed a double RET germlinemutation, Val804Met and Ser904Cys, in affected individuals.The clinical phenotype, the functional effect of the mutations,and the clinical implications of our findings are discussed.
Abbreviations: FMTC, Familial MTC; MEN 2, MEN type 2; MTC, medullarythyroid cancer.
This article has been cited by other articles:
S. A. Wells Jr. and M. Santoro Targeting the RET Pathway in Thyroid Cancer
Clin. Cancer Res.,
December 1, 2009;
15(23):
7119 - 7123.
[Abstract][Full Text][PDF]
A. N. Cranston, C. Carniti, K. Oakhill, E. Radzio-Andzelm, E. A. Stone, A. S. McCallion, S. Hodgson, S. Clarke, P. Mondellini, J. Leyland, et al. RET Is Constitutively Activated by Novel Tandem Mutations that Alter the Active Site Resulting in Multiple Endocrine Neoplasia Type 2B.
Cancer Res.,
October 15, 2006;
66(20):
10179 - 10187.
[Abstract][Full Text][PDF]
J. W. B. de Groot, T. P. Links, J. T. M. Plukker, C. J. M. Lips, and R. M. W. Hofstra RET as a Diagnostic and Therapeutic Target in Sporadic and Hereditary Endocrine Tumors
Endocr. Rev.,
August 1, 2006;
27(5):
535 - 560.
[Abstract][Full Text][PDF]
F. Carlomagno, S. Anaganti, T. Guida, G. Salvatore, G. Troncone, S. M. Wilhelm, and M. Santoro BAY 43-9006 inhibition of oncogenic RET mutants.
J Natl Cancer Inst,
March 1, 2006;
98(5):
326 - 334.
[Abstract][Full Text][PDF]
R. D. Read, P. J. Goodfellow, E. R. Mardis, N. Novak, J. R. Armstrong, and R. L. Cagan A Drosophila Model of Multiple Endocrine Neoplasia Type 2
Genetics,
November 1, 2005;
171(3):
1057 - 1081.
[Abstract][Full Text][PDF]
F. Lesueur, A. Cebrian, A. Cranston, J. Leyland, T. M. Faid, M. R. Clements, M. Robledo, J. Whittaker, and B. A. J. Ponder Germline Homozygous Mutations at Codon 804 in the RET Protooncogene in Medullary Thyroid Carcinoma/Multiple Endocrine Neoplasia Type 2A Patients
J. Clin. Endocrinol. Metab.,
June 1, 2005;
90(6):
3454 - 3457.
[Abstract][Full Text][PDF]
S Jindrichova, J Vcelak, P Vlcek, M Neradilova, J Nemec, and B Bendlova Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic
J. Endocrinol.,
November 1, 2004;
183(2):
257 - 265.
[Abstract][Full Text][PDF]
