Detection of c-kit-activating mutations in gastrointestinal stromal tumors by high-resolution amplicon melting analysis

American Journal of Clinical Pathology

Volumn 122, Issue 2, 2004, Pages 206-216

  Willmore, Carlynn ^a   Holden, Joseph A ^a   Zhou, Luming ^a   Tripp, Sheryl ^a   Wittwer, Carl T ^a   Layfield, Lester J ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

c kit activating mutation; Gastrointestinal stromal tumor; High resolution amplicon melting analysis; Polymerase chain reaction

Indexed keywords

IMATINIB; STEM CELL FACTOR RECEPTOR;

AMPLICON; ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DNA SEQUENCE; DRUG INDICATION; EXON; GASTROINTESTINAL STROMAL TUMOR; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; HIGH RESOLUTION AMPLICON MELTING ANALYSIS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MELTING POINT; METASTASIS; MUSCLE TUMOR; POINT MUTATION; PRIORITY JOURNAL; TUMOR RECURRENCE;

EID: 3242794909     PISSN: 00029173     EISSN: None     Source Type: Journal    
DOI: 10.1309/4E6UYBY62N2FCA6N     Document Type: Article

References (56)

1. Ullrich A, Schlessinger J. Signal transduction by receptors with tyrosine kinase activity. Cell. 1990;61:203-212.
2. Lemmon MA, Pinchasi D, Zhou M, et al. Kit receptor dimerization is driven by bivalent binding of stem cell factor. J Biol Chem. 1997;272:6311-6317.
3. Price DJ, Rivnay B, Fu Y, et al. Direct association of Csk homologous kinase (CHK) with the diphosphorylated site Tyr568/570 of the activated c-kit in megakaryocytes. J Biol Chem. 1997;272:5915-5920.
4. Thommes K, Lennartsson J, Carlberg M, et al. Identification of Tyr-703 and Tyr-936 as the primary association sites for Grb2 and Grb7 in the c-kit/stem cell factor receptor. Biochem J. 1999;341(pt 1):211-216.
5. Mol CD, Lim KB, Sridhar V, et al. Structure of a c-kit product complex reveals the basis for kinase transactivation. J Biol Chem. 2003;278:31461-31464.
6. Brizzi MF, Dentelli P, Rosso A, et al. STAT protein recruitment and activation in c-kit deletion mutants. J Biol Chem. 1999;274:16965-16972.
7. Chabot B, Stephenson DA, Chapman VM, et al. The protooncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature. 1988;335:88-89.
8. Tan JC, Nocka K, Ray P, et al. The dominant W42 spotting phenotype results from a missense mutation in the c-kit receptor kinase. Science. 1990;247:209-212.
9. Nocka K, Tan JC, Chiu E, et al. Molecular basis of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41, and W. EMBO J. 1990;9:1805-1813.
10. Sakuma Y, Sakurai S, Oguni S, et al. Alterations of the c-kit gene in testicular germ cell tumors. Cancer Sci. 2003;94:486-491.
11. Nagata H, Worobec AS, Oh CK, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A. 1995;92:10560-10564.
12. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279:577-580.
13. Corless CL, McGreevey L, Haley A, et al. kit mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol. 2002;160:1567-1572.
14. Nishida T, Hirota S, Taniguchi M, et al. Familial gastrointestinal stromal tumours with germline mutation of the kit gene [letter]. Nat Genet. 1998;19:323-324.
15. Isozaki K, Terris B, Bleghiti J, et al. Germline-activating mutation in the kinase domain of kit gene in familial gastrointestinal stromal tumors. Am J Pathol. 2000;157:1581-1585.
16. Joensuu H, Roberts PJ, Sarlomo-Rikala M, et al. Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. N Engl J Med. 2001;344:1052-1056.
17. Verweij J, van Oosterom A, Blay JY, et al. Imatinib mesylate (STI-571, Glivec, Gleevec) is an active agent for gastrointestinal stromal tumours, but does not yield responses in other soft-tissue sarcomas that are unselected for a molecular target: results from an EORTC Soft Tissue and Bone Sarcoma Group phase II study. Eur J Cancer. 2003;39:2006-2011.
18. Demetri GD, von Mehren M, Blanke CD, et al. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med. 2002;347:472-480.
19. Croom KF, Perry CM. Imatinib mesylate: in the treatment of gastrointestinal stromal tumours. Drugs. 2003;63:513-524.
20. Fletcher C, Berman JJ, Corless C, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol. 2002;33:459-465.
21. Sabah M, Leader M, Kay E. The problem with kit: clinical implications and practical difficulties with CD117 immunostaining. Appl Immunohistochem Mol Morphol. 2003;11:56-61.
22. Horvai AE, Li L, Xu Z, et al. c-kit is not expressed in malignant mesothelioma. Mod Pathol. 2003;16:818-822.
23. Hornick JL, Fletcher CD. Immunohistochemical staining for KIT (CD117) in soft tissue sarcomas is very limited in distribution. Am J Clin Pathol. 2002;117:188-193.
24. Yamazaki K, Sakamoto M, Ohta T, et al. Overexpression of kit in chromophobe renal cell carcinoma. Oncogene. 2003;22:847-852.
25. Bar-Sela G, Kuten A, Ben-Eliezer S, et al. Expression of HER2 and c-kit in nasopharyngeal carcinoma: implications for a new therapeutic approach. Mod Pathol. 2003;16:1035-1040.
26. Rushing RS, Shajahan S, Chendil D, et al. Uterine sarcomas express kit protein but lack mutation(s) in exon 11 or 17 of c-kit. Gynecol Oncol. 2003;91:9-14.
27. Wang L, Felix JC, Lee JL, et al. The proto-oncogene c-kit is expressed in leiomyosarcomas of the uterus. Gynecol Oncol. 2003;90:402-406.
28. Sawyer EJ, Poulsom R, Hunt FT, et al. Malignant phylloides tumours show stromal overexpression of c-myc and c-kit. J Pathol. 2003;200:59-64.
29. Wittwer CT, Reed GH, Gundry CN, et al. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem. 2003;49(6 pt 1):853-860.
30. Singer S, Rubin BP, Lux ML, et al. Prognostic value of kit mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors. J Clin Oncol. 2002;18:3898-3905.
31. Heinrich MC, Corless CL, Demetri GD, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol. 2003;21:4342-4349.
32. Antonescu CR, Sommer G, Sarran L, et al. Association of kit exon 9 mutations with nongastric primary site and aggressive behavior: kit mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res. 2003;9:3329-3337.
33. Holden JA, Perkins SL, Snow GW, et al. Immunohistochemical staining for DNA topoisomerase 11 in non-Hodgkin's lymphomas. Am J Clin Pathol. 1995;104:54-59.
34. Hornick JL, Fletcher CD. Validating immunohistochemical staining for KIT (CD117) [editorial]. Am J Clin Pathol. 2003;119:325-327.
35. Miettinen M, Lasota J. Gastrointestinal stromal tumors: definition, clinical, histological, immunohistochemical, and molecular features and differential diagnosis. Virchows Arch. 2001;438:1-12.
36. Holden JA. DNA topoisomerases as anticancer drug targets: from the laboratory to the clinic. Curr Med Chem Anti-Canc Agents. 2001;1:1-25.
37. Miettinen M, El-Rifai W, Sobin L, et al. Evaluation of malignancy and prognosis of gastrointestinal stromal tumors: a review. Hum Pathol. 2002;33:478-483.
38. Heinrich M, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science. 2003;299:708-710.
39. Rubin BP, Singer S, Tsao C, et al. kit activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res. 2001;61:8118-8121.
40. Taniguchi M, Nishida T, Hirota S, et al. Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res. 1999;59:4297-4300.
41. Lasota J, Jasinski M, Sarlomo-Rikala M, et al. Mutations in exon 11 of c-kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. Am J Pathol. 1999;154:53-60.
42. Allander SV, Nupponen NN, Ringner M, et al. Gastrointestinal stromal tumors with kit mutations exhibit a remarkably homogeneous gene expression profile. Cancer Res. 2001;61:8624-8628.
43. Rader AE, Avery A, Wait CL, et al. Fine-needle aspiration biopsy diagnosis of gastrointestinal stromal tumors using morphology, immunocytochemistry, and mutational analysis of c-kit. Cancer. 2001;93:269-275.
44. Wardelmann E, Neidt I, Bierhoff E, et al. c-kit mutations in gastrointestinal stromal tumors occur preferentially in the spindle rather than in the epithelioid cell variant. Mod Pathol. 2002;15:125-136.
45. Andersson J, Sjogren H, Meis-Kindblom JM, et al. The complexity of kit gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors. Am J Pathol. 2002;160:15-22.
46. Fletcher JA, Fletcher CD, Rubin BP, et al. kit gene mutations in gastrointestinal stromal tumors: more complex than previously recognized [letter]? Am J Pathol. 2002;161:737-738.
47. Lasota J, Wozniak A, Sarlomo-Rikala M, et al. Mutations in exons 9 and 13 of kit gene are rare events in gastrointestinal stromal tumors. Am J Pathol. 2000;157:1091-1095.
48. Lux ML, Rubin BP, Biase TL, et al. kit extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol. 2000;156:791-795.
49. Kinoshita K, Isozaki K, Hirota S, et al. Gene mutation and gastrointestinal tumors: c-kit gene mutation at exon 17 or 13 is very rare in sporadic gastrointestinal stromal tumors. J Gastroenterol Hepatol. 2003;118:147-150.
50. Sheng ZM, Przygodzki RM, O'Leary TJ. Rapid screening for kit mutations by capillary electrophoresis [letter]. Clin Chem. 2001;47:1325-1326.
51. Emile JF, Lemoine A, Bienfait N, et al. Length analysis of polymerase chain reaction products: a sensitive and reliable technique for the detection of mutations in kit exon 11 in gastrointestinal stromal tumors. Diagn Mol Pathol. 2002;11:107-112.
52. Ma Y, Cunningham ME, Wang X, et al. Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the kit intracellular juxtamembrane region. J Biol Chem. 1999;274:13399-13402.
53. Kitamura Y, Hirota S, Nishida T. Gastrointestinal stromal tumors (GIST): a model for molecule-based diagnosis and treatment of solid tumors. Cancer Sci. 2003;94:315-320.
54. Hirota S, Nishida T, Isozaki K, et al. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of kit gene. Gastroenterology. 2002;122:1493-1499.
55. Yantiss RK, Spiro IJ, Compton CC, et al. Gastrointestinal stromal tumor versus intra-abdominal fibromatosis of the bowel wall. Am J Surg Pathol. 2000;24:947-957.
56. 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;125:660-667.