Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma

Journal of Cutaneous Pathology

Volumn 40, Issue 7, 2013, Pages 623-630

  Swick, Brian L ^a,b   Srikantha, Rupasree ^a   Messingham, Kelly N ^a  

^a UNIVERSITY OF IOWA   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

cancer research; cutaneous neoplasm; laser capture microdissection; Merkel cell carcinoma

Indexed keywords

ANTINEOPLASTIC AGENT; BENZAMIDE DERIVATIVE; CODON; IMATINIB; PIPERAZINE DERIVATIVE; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PYRIMIDINE DERIVATIVE; STEM CELL FACTOR RECEPTOR;

ADULT; AGED; AMINO ACID SUBSTITUTION; BIOSYNTHESIS; CLINICAL TRIAL; CODON; EXON; FEMALE; GASTROINTESTINAL NEOPLASMS; GENE EXPRESSION REGULATION; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MERKEL CELL TUMOR; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; SECONDARY; SKIN TUMOR; VERY ELDERLY; ARTICLE; GASTROINTESTINAL TUMOR; METASTASIS;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; ANTINEOPLASTIC AGENTS; BENZAMIDES; CARCINOMA, MERKEL CELL; CODON; EXONS; FEMALE; GASTROINTESTINAL NEOPLASMS; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PIPERAZINES; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; RETROSPECTIVE STUDIES; SKIN NEOPLASMS;

EID: 84879142758     PISSN: 03036987     EISSN: 16000560     Source Type: Journal    
DOI: 10.1111/cup.12160     Document Type: Article

References (42)

1. Su LD, Fullen DR, Lowe L, Uherova P, Schnitzer B, Valdez R,. CD117 (KIT receptor) expression in Merkel cell carcinoma. Am J Dermatopathol 2002; 24: 289.
2. Strong S, Shalders K, Carr R, Snead DR,. KIT receptor (CD117) expression in Merkel cell carcinoma. Br J Dermatol 2004; 150: 384.
3. Yang DT, Holden JA, Florell SR,. CD117, CK20, TTF-1, and DNA topoisomerase II-alpha antigen expression in small cell tumors. J Cutan Pathol 2004; 31: 254.
4. Feinmesser M, Halpern M, Kaganovsky E, et al. c-kit expression in primary and metastatic merkel cell carcinoma. Am J Dermatopathol 2004; 26: 458.
5. Llombart B, Monteagudo C, Lopez-Guerrero JA, et al. Clinicopathological and immunohistochemical analysis of 20 cases of Merkel cell carcinoma in search of prognostic markers. Histopathology 2005; 46: 622.
6. Swick BL, Ravdel L, Fitzpatrick JE, Robinson WA,. Merkel cell carcinoma: evaluation of KIT (CD117) expression and failure to demonstrate activating mutations in the C-KIT proto-oncogene-implications for treatment with imatinib mesylate. J Cutan Pathol 2007; 34: 329.
7. Kartha RV, 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 2008; 21: 96.
8. Krasagakis K, Kruger-Krasagakis S, Eberle J, Tsatsakis A, Tosca AD, Stathopoulos EN,. Co-expression of KIT receptor and its ligand stem cell factor in Merkel cell carcinoma. Dermatology 2009; 218: 37.
9. Andea AA, Patel R, Ponnazhagan S, et al. Merkel cell carcinoma: correlation of KIT expression with survival and evaluation of KIT gene mutational status. Hum Pathol 2010; 41: 1405.
10. Swick BL, Ravdel L, Fitzpatrick JE, Robinson WA,. Platelet-derived growth factor receptor alpha mutational status and immunohistochemical expression in Merkel cell carcinoma: implications for treatment with imatinib mesylate. J Cutan Pathol 2008; 35: 197.
11. Pauls K, Merkelbach-Bruse S, Thal D, Buttner R, Wardelmann E,. PDGFR-alpha and c-kit mutated gastrointestinal stromal tumours (GISTs) are characterized by distinctive histological and immunohistochemical features. Histopathology 2005; 46: 166.
12. Corless CL, Fletcher JA, Heinrich MC,. Biology of gastrointestinal stromal tumors. J Clin Oncol 2004; 22: 3813.
13. Davids M, Charlton A, Ng SS, et al. Response to a novel multitargeted tyrosine kinase inhibitor pazopanib in metastatic Merkel cell carcinoma. J Clin Oncol 2009; 27: e97.
14. Waltari M, Sihto H, Kukko H, et al. Association of Merkel cell polyomavirus infection with tumor p53, KIT, stem cell factor, PDGFR-alpha and survival in Merkel cell carcinoma. Int J Cancer 2011; 129: 619.
15. Curran S, McKay JA, McLeod HL, Murray GI,. Laser capture microscopy. Mod Pathol 2000; 53: 64.
16. DAKO polyclonal rabbit anti-human CD117, c-kit A4502, package insert. URL http://www.dako.com/us/download.pdf?objectid=115156001 [accessed on 12 November 2011].
17. Brunner M, Thurnher D, Pammer J, et al. 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 2008; 21: 876.
18. Yang Q, Hornick JL, Granter SR, Wang LC,. Merkel cell carcinoma Lack of KIT positivity and implications for the use of imatinib mesylate. Appl Immunohistochem Mol Morphol 2009; 17: 276.
19. Bobos M, Hytiroglou P, Kostopoulos I, Karkavelas G, Papadimitriou CS,. Immunohistochemical distinction between Merkel cell carcinoma and small cell carcinoma of the lung. Am J Dermatopathol 2006; 28: 99.
20. Fleischman RA,. Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. J Clin Invest 1992; 89: 1713.
21. Krasagaski K, Metaxari M, Zervou M, et al. Identification of the M541L sequence variation of the transmembrane KIT domain in Merkel cell carcinoma. Anticancer Res 2011; 31: 807.
22. Longley BJ, Reguera MJ, Ma Y,. Classes of c-kit activating mutations: proposed mechanisms of actions and implications for disease classification and therapy. Leuk Res 2001; 25: 571.
23. Nishida T, Takahashi T, Miyazaki Y,. Gatro-intestinal stromal tumor: a bridge between bench and bedside. Gastric Cancer 2009; 12: 175.
24. Miettinen M, Lasota J,. Gastrointestinal stromal tumors. Review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch Pathol Lab Med 2006; 130: 1466.
25. Iesalnieks I, Rummele P, Dietmaier W, et al. Factors associated with disease progression in patients with gastrointestinal stromal tumors in the pre-imatinib era. Am J Clin Pathol 2005; 124: 740.
26. Ni S, Huang D, Chen X, et al. c-kit gene mutation and CD117 expression in human anorectal melanomas. Hum Pathol 2012; 43: 801.
27. Spiritz RA, Giebel LB, Holmes SA,. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet 1992; 50: 261.
28. Syrris P, Malik NM, Murday VA,. Three novel mutations of the proto-oncogene KIT causes human piebaldism. Am J Med Genet 2000; 95: 79.
29. Hodi FS, Friedlander P, Corless CL, et al. Major response to imatinib mesylate in KIT-mutated melanoma. J Clin Oncol 2008; 26: 2046.
30. Beadling C, Jacobson-Dunlop E, Hodi FS, et al. KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res 2008; 14: 6821.
31. Hirota S, Ohashi A, Nishida T, et al. Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology 2003; 125: 660.
32. Holtkamp N, Okuducu AF, Mucha J, et al. Mutation and expression of PDGFRA and KIT in malignant peripheral nerve sheath tumors, and its implications for imatinib sensitivity. Carcinogenesis 2006; 27: 664.
33. Hartmann C, Xu X, Bartels G, et al. Pdgfr-alpha in 1p/19q LOH oligodendrogliomas. Int J Cancer 2004; 112: 1081.
34. Feng H, Shuda M, Chang Y, Moore PS,. Clonal integration of a polyomavirus in human Merkel cell carcinoma. Science 2008; 319: 1096.
35. Houben R, Shuda M, Weinkam R, et al. Merkel cell polyomavirus-infected Merkel cell carcinoma cells require expression of viral T antigens. J Virol 2010; 84: 7064.
36. Houben R, Adam C, Baeurle A, et al. An intact retinoblastoma protein binding site in Merkel cell polyomavirus large T antigen is required for promoting growth of Merkel cell carcinoma cells. Int J Cancer 2012; 130: 847.
37. Bhatia K, Goedert JJ, Modali R, Preiss L, Ayers LW,. Merkel cell carcinoma subgroups by Merkel cell polyomavirus DNA relative abundance and oncogene expression. Int J Cancer 2010; 126: 2240.
38. Touzé A, Le Bidre E, Laude H, et al. High level of antibodies against Merkel cell polyomavirus identify a subset of patients with Merkel cell carcinoma with better clinical outcomes. J Clin Oncol 2011; 29: 1612.
39. Houben R, Grimm J, Willmes C, Weinkam R, Becker JC, Schrama D,. Merkel cell carcinoma and Merkel cell polyomavirus: evidence for hit-and-run oncogenesis. J Invest Dermatol 2012; 132: 254.
40. Samlowski WE, Moon J, Tuthill RJ, et al. A phase II trial of imatinib mesylate in Merkel cell carcinoma (neuroendocrine carcinoma of the skin). A Southwest Oncology Group study (S0331). Am J Clin Oncol 2010; 33: 495.
41. Longley BJ, Metcalfe DD, Tharp M, et al. Activatingand dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci 1999; 96: 1609.
42. Larue L, Dougherty N, Porter S, Minitz B,. Spontaneous malignant transformation of melanocytes explanted from Wf/Wf mice with a Kit kinase-domain mutation. Proc Natl Acad Sci U S A 1992; 89: 7816.