Identification of the M541L sequence variation of the transmembrane KIT domain in Merkel cell carcinoma

Anticancer Research

Volumn 31, Issue 3, 2011, Pages 807-811

  Krasagakis, Konstantin ^a   Metaxari, Maria ^a   Zervou, Maria ^a   Stathopoulos, Eustathios N ^a   Eberle, Juergen ^b   Kanitakis, Jean ^c   Georgoulias, Vassilis ^a   Krüger Krasagakis, Sabine ^a   Tavernarakis, Nektarios ^d   Tosca, Androniki D ^a  

^a UNIVERSITY OF CRETE   (Greece)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c EDOUARD HERRIOT HOSPITAL   (France)

^d INSTITUTE OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY   (Greece)

Author keywords

KIT; Merkel cell carcinoma; Mutation; Sequence variation

Indexed keywords

KIT PROTEIN; PARAFFIN; TUMOR MARKER; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; HUMAN; HUMAN CELL; HUMAN TISSUE; MERKEL CELL TUMOR; MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; WILD TYPE;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; BIOPSY; CARCINOMA, MERKEL CELL; CELL LINE, TUMOR; CELL MEMBRANE; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS C-KIT; SKIN NEOPLASMS;

EID: 79956083927     PISSN: 02507005     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Besmer P, Murphy JE, George PC, Qiu FH, Bergold PJ, Lederman L, Snyder HW Jr., Brodeur D, Zuckerman EE and Hardy WD: A new acute transforming feline retrovirus and relationship of its oncogene v-Kit with the protein kinase gene family. Nature 320: 415-421, 1986. (Pubitemid 16097805)
2. Chabot B, Stephenson DA, Chapman VM, Besmer P and Bernstein A: The proto-oncogene c-Kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 335: 88-89, 1988.
3. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K,Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y and Kitamura Y: Gain-of-function mutations of c-KIT in human gastrointestinal stromal tumors. Science 279: 577-580, 1998.
4. Longley BJ Jr., Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, Heitjan D and Ma Y: Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 96: 1609-1614, 1999.
5. Curtin JA, Busam K, Pinkel D and Bastian BC: Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 24: 4340-4346, 2006. (Pubitemid 46630793)
6. Tamborini E, Bonadiman L, Negri T, Greco A, Staurengo S, Bidoli P, Pastorino U, Pierotti MA and Pilotti S: Detection of overexpressed and phosphorylated wild-type KIT receptor in surgical specimens of small cell lung cancer. Clin Cancer Res 10: 8214-8219, 2004. (Pubitemid 40053380)
7. Heinrich MC, Owzar K, Corless CL, Hollis D, Borden EC, Fletcher CD, Ryan CW, von Mehren M, Blanke CD, Rankin C, Benjamin RS, Bramwell VH, Demetri GD, Bertagnolli MM and Fletcher JA: Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncology Group. J Clin Oncol 26: 5360-5367, 2008.
8. Krasagakis K and Tosca AD: Overview of Merkel cell carcinoma and recent advances in research. Int J Dermatol 42: 669-676, 2003.
9. Poulsen M: Merkel cell carcinoma of the skin. Lancet Oncol 5: 593-599, 2004.
10. Su LD, Fullen DR, Lowe L, Uherova P, Schnitzer B and Valdez R: CD117 (KIT receptor) expression in Merkel cell carcinoma. Am J Dermatopathol 24: 289-293, 2002. (Pubitemid 34810303)
11. Kartha RV and Sundram UN: Silent mutations in KIT and PDGFRA and coexpression of receptors with SCF and PDGFA in Merkel cell carcinoma: implications for tyrosine kinase-based tumorigenesis. Mod Pathol 21: 96-104, 2008.
12. Krasagakis K, Kruger-Krasagakis S, Eberle J, Tsatsakis A, Tosca AD and Stathopoulos EN: Co-expression of KIT receptor and its ligand stem cell factor in Merkel cell carcinoma. Dermatology 218: 37-43, 2009.
13. Andea AA, Patel R, Ponnazhagan S, Kumar S, DeVilliers P, Jhala D, Eltoum IE and Siegal GP: Merkel cell carcinoma: correlation of KIT expression with survival and evaluation of KIT gene mutational status. Hum Pathol 41: 1405-1412, 2010.
14. Waltari M, Sihto H, Kukko H, Koljonen V, Sankila R, Böhling T and Joensuu H: Association of Merkel cell Polyomavirus infection with tumor p53, KIT, stem cell factor, PDGFR-alpha and survival in Merkel cell carcinoma. Int J Cancer, 2010 [Epub ahead of print].
15. Swick BL, Ravdel L, Fitzpatrick JE and Robinson WA: Merkel cell carcinoma: evaluation of KIT (CD117) expression and failure to demonstrate activating mutations in the c-KIT protooncogene - implications for treatment with imatinib mesylate. J Cutan Pathol 34: 324-329, 2007.
16. Brunner M, Thurnher D, Pammer J, Geleff S, Heiduschka G, Reinisch CM, Petzelbauer P and Erovic BM: Expression of VEGF-A/C, VEGF-R2, PDGF-alpha/beta, c-KIT, EGFR, HER-2/Neu, MCL-1 and BMI-1 in Merkel cell carcinoma. Mod Pathol 21: 876-884, 2008.
17. Krasagakis K, Almond-Roesler B, Geilen C, Fimmel S, Krengel S, Chatzaki E, Gravanis A and Orfanos CE: Growth and characterization of a cell line from a human primary neuroendocrine carcinoma of the skin (Merkel cell carcinoma) in culture and as xenograft. J Cell Physiol 187: 386-391, 2001. (Pubitemid 32378363)
18. Krasagakis K, Fragiadaki I, Metaxari M, Krüger-Krasagakis S, Tzanakakis G, Stathopoulos E, Eberle J, Tavernarakis N and Tosca AD: KIT receptor activation by autocrine and paracrine stem cell factor stimulates growth of Merkel cell carcinoma in vitro. J Cell Physiol 226: 1099-1109, 2011.
19. Inokuchi K, Yamaguchi H, Tarusawa M, Futaki M, Hanawa H, Tanosaki S and Dan K: Abnormality of c-KIT oncoprotein in certain patients with chronic myelogenous leukemia - potential clinical significance. Leukemia 16: 170-177, 2002. (Pubitemid 34145133)
20. Paquette RL, Hsu NC and Koeffler HP: Analysis of c-KIT gene integrity in aplastic anemia. Blood Cells Mol Dis 22: 159-168, 1996.
21. Nagata H, Worobec AS and Metcalfe DD: Identification of a polymorphism in the transmembrane domain of the protooncogene c-KIT in healthy subjects. Exp Clin Immunogenet 13: 210-214, 1996.
22. Riva P and Larizza L: A novel potentially diagnostic polymorphism (4894 A/C) in exon 10 of the human c-KIT protooncogene. Mol Cell Probes 10: 387-388, 1996. (Pubitemid 26372359)
23. Tayal S, Classen E, Bemis L and Robinson WA: c-KIT expression in dedifferentiated and well-differentiated liposarcomas; immunohistochemistry and genetic analysis. Anticancer Res 25: 2215-2220, 2005.
24. Bodemer C, Hermine O, Palmérini F, Yang Y, Grandpeix-Guyodo C, Leventhal PS, Hadj-Rabia S, Nasca L, Georgin-Lavialle S, Cohen-Akenine A, Launay JM, Barete S, Feger F, Arock M, Catteau B, Sans B, Stalder JF, Skowron F, Thomas L, Lorette G, Plantin P, Bordigoni P, Lortholary O, de Prost Y, Moussy A, Sobol H and Dubreuil P: Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol 130: 804-815, 2010.
25. Bertucci F, Gonçalves A, Viens P, Monges G and Dubreuil P: Desmoid-type fibromatosis. J Neurosurg 107: 473-475, 2007.
26. Dufresne A, Bertucci F, Penel N, Le Cesne A, Bui B, Tubiana-Hulin M,Ray-Coquard I, Cupissol D, Chevreau C, Perol D, Goncalves A, Jimenez M, Bringuier PP and Blay JY: Identification of biological factors predictive of response to imatinib mesylate in aggressive fibromatosis. Br J Cancer 103: 482-485, 2010.
27. Rocha J, Luz Duarte M, Marques H, Torres F, Tavares P, Silva A and Brito C: Association of adult mastocytosis with M541L in the transmembrane domain of KIT. J Eur Acad Dermatol Venereol 24: 1118-1119, 2010.
28. Foster R, Byrnes E, Meldrum C, Griffith R, Ross G, Upjohn E, Braue A, Scott R, Varigos G, Ferrao P and Ashman LK: Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. Br J Dermatol 159: 1160-1169, 2008.