CDKN1B V109G polymorphism a new prognostic factor in sporadic medullary thyroid carcinoma

European Journal of Endocrinology

Volumn 164, Issue 3, 2011, Pages 397-404

  Pasquali, Daniela ^a   Circelli, Luisa ^b,c   Faggiano, Antongiulio ^d   Pancione, Massimo ^b   Renzullo, Andrea ^a   Elisei, Rossella ^e   Romei, Cristina ^e   Accardo, Giacomo ^a   Coppola, Viviana Raffaella ^a   De Palma, Maurizio ^f   Ferolla, Piero ^g   Grimaldi, Franco ^h   Colao, Annamaria ⁱ   Colantuoni, Vittorio ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b UNIVERSITY OF SANNIO   (Italy)

^c CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^d IRCCS SDN   (Italy)

^e UNIVERSITY OF PISA   (Italy)

^f VI Chirurgia   (Italy)

^g UNIVERSITY OF PERUGIA   (Italy)

^h SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

ⁱ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; CYCLIN DEPENDENT KINASE INHIBITOR 1B; PROTEIN RET; CDKN1B PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADULT; AMPLICON; ARTICLE; CALCITONIN BLOOD LEVEL; CANCER GROWTH; CANCER REGRESSION; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISTANT METASTASIS; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; RECURRENCE RISK; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID MEDULLARY CARCINOMA; ULTRASOUND; WILD TYPE; BLOOD; GENETICS; MIDDLE AGED; MULTIVARIATE ANALYSIS; PROPORTIONAL HAZARDS MODEL; THYROID TUMOR; CANCER RECURRENCE; CANCER STAGING; DNA POLYMORPHISM; ECHOGRAPHY; EXON; GENOTYPE; NUCLEIC ACID BASE SUBSTITUTION;

ADULT; CALCITONIN; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; THYROID NEOPLASMS;

EID: 79951963825     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0929     Document Type: Article

References (32)

1. Polyak K, Lee MH, Erdjument-Bromage H, Koff A, Roberts JM, Tempst P & Massague J. Cloning of p27Kip1 a cyclin dependent kinase inhibitor and a potential mediator of extracellular antimitogenic signals. Cell 1994 78 59-66. (doi:10.1016/0092-8674(94)90572-X)
2. Toyoshima H & Hunter T. p27Kip1, a novel inhibitor of G1 cyclin- Cdk protein kinase activity, is related to p21. Cell 1994 78 67-74. (doi:10.1016/0092-8674(94)90573-8)
3. Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Höfler H, Fend F, Graw J & Atkinson MJ. Germline mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. PNAS 2006 103 15558-15563. (doi:10.1073/pnas.0603877103)
4. Agarwal SK, Mateo CM & Marx SJ. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. Journal of Clinical Endocrinology and Metabolism 2009 94 1826-1834. (doi:10.1210/jc.2008-2083)
5. Alevizaki M & Stratakis CA. Multiple endocrine neoplasias: advances and challenges for the future. Journal of Internal Medicine 2009 266 1-4. (doi:10.1111/j.1365-2796.2009.02108.x)
6. Ozawa A, Agarwal SK, Mateo CM, Burns AL, Rice TS, Kennedy PA, Quigley CM, Simonds WF, Weinstein LS, Chandrasekharappa SC, Collins FS, Spiegel AM & Marx SJ. The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. Journal of Clinical Endocrinology and Metabolism 2007 92 1948-1951. (doi:10.1210/jc.2006-2563)
7. Molatore S, Marinoni I, Lee M, Pulz E, Ambrosio MR, degli Uberti EC, Zatelli MC & Pellegata NS. A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. Human Mutation 2010 31 1825-1835. (doi:10.1002/humu.21354)
8. Igreja S, Chahal HS, Akker SA, Gueorguiev M, Popovic V, Damjanovic S, Burman P, Wass JA, Quinton R, Grossman AB & Korbonits M. Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and AIP (aryl hydrocarbon receptor-interacting protein) genes in MEN 1 syndrome patients without any detectable MEN 1 gene mutations. Clinical Endocrinology 2008 70 259-264. (doi:10.1111/j.1365-2265.2008.03379.x)
9. Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Mäkinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gündogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Launonen V, Vahteristo P & Aaltonen LA. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. Journal of Clinical Endocrinology and Metabolism 2007 92 3321-3325. (doi:10.1210/jc.2006-2843)
10. Cavé H, Martin E, Devaux I & Grandchamp B. Identification of a polymorphism in the coding region of the p27Kip1 gene. Annales de Genetique 1995 38 108.
11. Kibel AS, Suarez BK, Belani J, Oh J, Webster R, Brophy-Ebbers M, Guo C, Catalona WJ, Picus J & Goodfellow PJ. CDKN1A and CDKN1B polymorphisms and risk of advanced prostate carcinoma. Cancer Research 2003 63 2033-2036. (Pubitemid 36538603)
12. Chang BL, Zheng SL, Isaacs SD, Wiley KE, Turner A, Li G, Walsh PC, Meyers DA, Isaacs WB & Xu J. A polymorphism in the CDKN1B gene is associated with increased risk of hereditary prostate cancer. Cancer Research 2004 64 1997-1999. (doi:10.1158/0008-5472.CAN-03-2340)
13. Ma H, Jin G, Hu Z, Zhai X, Chen W, Wang S, Wang X, Qin J, Gao J, Liu J, Wang X, Wei Q & Shen H. Variant genotypes of CDKN1A and CDKN1B are associated with an increased risk of breast cancer in Chinese women. International Journal of Cancer 2006 119 2173-2178. (doi:10.1002/ijc.22094)
14. Figueiredo JC, Knight JA, Cho S, Savas S, Onay UV, Briollais L, Goodwin PJ, McLaughlin JR, Andrulis IL & Ozcelik H. Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosis. BMC Cancer 2007 7 99-106. (doi:10.1186/1471-2407-7-99)
15. Li G, Sturgis EM, Wang LE, Chamberlain RM, Spitz MR, El-Naggar AK, Hong WK & Wei Q. Association between the V109G polymorphism of the p27 gene and the risk and progression of oral squamous cell carcinoma. Clinical Cancer Research 2004 10 3996-4002. (doi:10.1158/1078-0432.CCR-04-0089)
16. Chen J, Li D, Killary AM, Sen S, Amos CI, Evans DB, Abbruzzese JL & Frazier ML. Polymorphisms of p16, p27, p73, and MDM2 modulate response and survival of pancreatic cancer patients treated with preoperative chemoradiation. Annals of Surgical Oncology 2009 16 431-439. (doi:10.1245/s10434-008-0220-8)
17. Jiménez C, Hu MIN & Gagel RF. In thyroid tumors: management of medullary thyroid carcinoma. Endocrinology and Metabolism Clinics of North America 2008 37 481-496. (doi:10.1016/j.ecl.2008.03.001)
18. Schlumberger M, Carlomagno F, Baudin E, Bidart JM & Santoro M. New therapeutic approaches to treat medullary thyroid carcinoma. Nature Clinical Practice. Endocrinology and Metabolism 2008 4 22-32. (doi:10.1038/ncpendmet0717)
19. Cote GJ & Gagel RF. Lessons learned from the management of a rare genetic cancer. New England Journal of Medicine 2003 349 1566-1568. (doi:10.1056/NEJMe038148)
20. Zbuk KM & Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nature Reviews. Cancer 2007 7 35-45. (doi:10.1038/nrc2037)
21. Elisei R, Romei C, Cosci B, Agate L, Bottici V, Molinaro E, Sculli M, Miccoli P, Basolo F, Grasso L, Pacini F & Pinchera A. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. Journal of Clinical Endocrinology and Metabolism 2007 92 4725-4729. (doi:10.1210/jc.2007-1005)
22. Cerrato A, De Falco V & Santoro M. Molecular genetics of medullary thyroid carcinoma: the quest for novel therapeutic targets. Journal of Molecular Endocrinology 2009 43 143-155. (doi:10.1677/JME-09-0024)
23. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, More JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A & Ponder BAJ. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993 363 458-460. (doi:10.1038/363458a0)
24. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P & Wells SA Jr. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Human Molecular Genetics 1993 2 851-856. (doi:10.1093/hmg/2.7.851)
25. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M & Wells SA Jr. Medullary thyroid cancer: management guidelines of the American Thyroid Association the American Thyroid Association Guidelines Task Force*. Thyroid 2009 19 565-612. (doi:10.1089/thy.2008.0403)
26. Faggiano A, Milone F, Ramundo V, Chiofalo MG, Ventre I, Giannattasio R, Severino R, Lombardi G, Colao A & Pezzullo L. A decrease of calcitonin serum concentrations less than 50 percent 30 minutes after thyroid surgery suggests incomplete C-cell tumor tissue removal. Journal of Clinical Endocrinology and Metabolism 2010 95 32-36. (doi:10.1210/jc.2010-0045)
27. Elisei R, Cosci B, Romei C, Bottici V, Renzini G, Molinaro E, Agate L, Vivaldi A, Faviana P, Basolo F, Miccoli P, Berti P, Pacini F & Pinchera A. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year followup study. Journal of Clinical Endocrinology and Metabolism 2008 93 682-687. (doi:10.1210/jc.2007-1714)
28. Scurini C, Quadro L, Fattoruso O, Verga U, Libroia A, Lupoli G, Cascone E, Marzano L, Paracchi S, Busnardo B, Girelli ME, Bellastella A & Colantuoni V. Germ-line and somatic mutations of the RET proto-oncogene in apparently sporadic medullary thyroid carcinomas. Molecular and Cellular Endocrinology 1998 137 51-57. (doi:10.1016/S0303-7207(97)00234-7)
29. Russo AA, Jeffrey PD, Patten AK, Massagué J & Pavletich NP. Crystal structure of the p27Kip1 cyclin-dependent-kinase inhibitor bound to the cyclin A-Cdk2 complex. Nature 1996 382 325-331. (doi:10.1038/382325a0)
30. Hao B, Zheng N, Schulman BA, Wu G, Miller JJ, Pagano M & Pavletich NP. Structural basis of the Cks1-dependent recognition of p27(Kip1) by the SCF(Skp2) ubiquitin ligase. Molecular Cell 2005 20 9-19. (doi:10.1016/j.molcel. 2005.09.003)
31. Tomoda K, Kubota Y, Arata Y, Mori S, Maeda M, Tanaka T, Yoshida M, Yoneda-Kato N & Kato JY. The cytoplasmic shuttling and subsequent degradation of p27Kip1 mediated by Jab1/CSN5 and the COP9 signalosome complex. Journal of Biological Chemistry 2002 277 2302-2310. (doi:10.1074/jbc.M104431200)
32. Chu IM, Hengst L & Slingerland JM. The Cdk inhibitor p27 in human cancer: prognostic potential and relevance to anticancer therapy. Nature Reviews. Cancer 2008 8 253-267. (doi:10.1038/nrc2347)