Gastrointestinal Stromal tumors with kit Exon 9 mutations: Update on genotype-phenotype correlation and validation of a high-resolution melting assay for mutational testing

American Journal of Surgical Pathology

Volumn 37, Issue 11, 2013, Pages 1648-1659

  Künstlinger, Helen ^a   Huss, Sebastian ^a,b   Merkelbach Bruse, Sabine ^a   Binot, Elke ^a   Kleine, Michaela Angelika ^a   Loeser, Heike ^d   Mittler, Jens ^c   Hartmann, Wolfgang ^a   Hohenberger, Peter ^e   Reichardt, Peter ^a   Büttner, Reinhard ^a   Wardelmann, Eva ^a   Schildhaus, Hans Ulrich ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e Oncology and Palliative Care   (Germany)

Author keywords

exon 9; gastrointestinal stromal tumor; high resolution melting assay; KIT

Indexed keywords

ANTINEOPLASTIC AGENT; BENZAMIDE DERIVATIVE; IMATINIB; PIPERAZINE DERIVATIVE; PROTEIN KINASE INHIBITOR; PYRIMIDINE DERIVATIVE; STEM CELL FACTOR RECEPTOR;

AGED; ARTICLE; CHI SQUARE DISTRIBUTION; DNA DENATURATION; EXON; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GASTROINTESTINAL TUMOR; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; METHODOLOGY; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PREDICTIVE VALUE; REGISTER; REPRODUCIBILITY; TREATMENT OUTCOME; VALIDATION STUDY;

AGED; ANTINEOPLASTIC AGENTS; BENZAMIDES; CHI-SQUARE DISTRIBUTION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID DENATURATION; PHENOTYPE; PIPERAZINES; PREDICTIVE VALUE OF TESTS; PROTEIN KINASE INHIBITORS; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; REGISTRIES; REPRODUCIBILITY OF RESULTS; TREATMENT OUTCOME;

EID: 84886425965     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e3182986b88     Document Type: Article

References (37)

1. Wardelmann E, Losen I, Hans V, et al. Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer. 2003;106:887-895.
2. Corless CL, Schroeder A, Griffith D, et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol. 2005;23:5357-5364.
3. Debiec-Rychter M, Sciot R, Le Cesne A, et al. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer. 2006;42:1093-1103.
4. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology. 2008;53:245-266.
5. Lasota J, Kopczynski J, Sarlomo-Rikala M, et al. KIT 1530ins6 mutation defines a subset of predominantly malignant gastrointestinal stromal tumors of intestinal origin. Hum Pathol. 2003;34: 1306-1312.
6. 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.
7. Miettinen M, Makhlouf H, Sobin LH, et al. Gastrointestinal stromal tumors of the jejunum and ileum: a clinicopathologic, immunohistochemical, and molecular genetic study of 906 cases before imatinib with long-term follow-up. Am J Surg Pathol. 2006;30:477-489.
8. Miettinen M, Sobin LH, Lasota J. Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 1765 cases with long-term follow-up. Am J Surg Pathol. 2005;29:52-68.
9. Huss S, Wardelmann E, Goltz D, et al. Activating PDGFRA mutations in inflammatory fibroid polyps occur in exons 12, 14 and 18 and are associated with tumour localization. Histopathology. 2012;61:59-68.
10. Merkelbach-Bruse S, Dietmaier W, Fuzesi L, et al. Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors. BMC Med Genet. 2010;11:106.
11. Lasota J, Corless CL, Heinrich MC, et al. Clinicopathologic profile of gastrointestinal stromal tumors (GISTs) with primary KIT exon 13 or exon 17 mutations: a multicenter study on 54 cases. Mod Pathol. 2008;21:476-484.
12. Miettinen M, Lasota J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol. 2006;23: 70-83.
13. Price VE, Zielenska M, Chilton-MacNeill S, et al. Clinical and molecular characteristics of pediatric gastrointestinal stromal tumors (GISTs). Pediatr Blood Cancer. 2005;45:20-24.
14. Kwon JE, Kang HJ, Kim SH, et al. Pathological characteristics of gastrointestinal stromal tumours with PDGFRA mutations. Pathology. 2009;41:544-554.
15. Gomes AL, Gouveia A, Capelinha AF, et al. Molecular alterations of KIT and PDGFRA in GISTs: evaluation of a Portuguese series. J Clin Pathol. 2008;61:203-208.
16. Mazzola P, Spitale A, Banfi S, et al. Epidemiology and molecular biology of gastrointestinal stromal tumors (GISTs): a populationbased study in the South of Switzerland, 1999-2005. Histol Histopathol. 2008;23:1379-1386.
17. Gasparotto D, Rossi S, Bearzi I, et al. Multiple primary sporadic gastrointestinal stromal tumors in the adult: an underestimated entity. Clin Cancer Res. 2008;14:5715-5721.
18. Haller F, Gunawan B, von Heydebreck A, et al. Prognostic role of E2F1 and members of the CDKN2A network in gastrointestinal stromal tumors. Clin Cancer Res. 2005;11:6589-6597.
19. Martin J, Poveda A, Llombart-Bosch A, et al. Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol. 2005;23:6190-6198.
20. Lasota J, Miettinen M. KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diagn Pathol. 2006;23:91-102.
21. Hostein I, Longy M, Gastaldello B, et al. Detection of a new mutation in KIT exon 9 in a gastrointestinal stromal tumor. Int J Cancer. 2006;118:2089-2091.
22. Kontogianni-Katsarou K, Dimitriadis E, Lariou C, et al. KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential. World J Gastroenterol. 2008;14:1891-1897.
23. 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. A study of 200 cases. Am J Pathol. 2000;157:1091-1095.
24. Hirota S, Nishida T, Isozaki K, et al. Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. J Pathol. 2001;193:505-510.
25. Choi HJ, Lee H, Kim H, et al. MicroRNA expression profile of gastrointestinal stromal tumors is distinguished by 14q loss and anatomic site. Int J Cancer. 2010;126:1640-1650.
26. Rossi S, Gasparotto D, Toffolatti L, et al. Molecular and clinicopathologic characterization of gastrointestinal stromal tumors (GISTs) of small size. Am J Surg Pathol. 2010;34:1480-1491.
27. 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.
28. Forbes SA, Bhamra G, Bamford S, et al. The Catalogue of Somatic Mutations in Cancer (COSMIC). Current Protocols in Human Genetics/Editorial Board, Jonathan L Haines [et al]. 2008; Chapter 10: Unit 10 11.
29. Joensuu H, Vehtari A, Riihimaki J, et al. Risk of recurrence of gastrointestinal stromal tumour after surgery: an analysis of pooled population-based cohorts. Lancet Oncol. 2012;13:265-274.
30. Monzon FA, Ogino S, Hammond ME, et al. The role of KRAS mutation testing in the management of patients with metastatic colorectal cancer. Arch Pathol Lab Med. 2009;133:1600-1606.
31. Yuzawa S, Opatowsky Y, Zhang Z, et al. Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor. Cell. 2007;130:323-334.
32. Huss S, Ku nstlinger H, Wardelmann E, et al. A subset of gastrointestinal stromal tumors previously regarded as wild type tumors carries somatic activating mutations in KIT exon 8 (p.D419del). Mod Pathol. 2013 Apr 19 doi: 10.1038/modpathol. 2013.47. [Epub ahead of print].
33. Neuhann TM, Mansmann V, Merkelbach-Bruse S, et al. A novel germline KIT mutation (L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. Am J Surg Pathol. 2013; 37:898-905.
34. Lasota J, vel Dobosz AJ, Wasag B, et al. Presence of homozygous KIT exon 11 mutations is strongly associated with malignant clinical behavior in gastrointestinal stromal tumors. Lab Invest. 2007;87: 1029-1041.
35. Sakurai S, Oguni S, Hironaka M, et al. Mutations in c-kit gene exons 9 and 13 in gastrointestinal stromal tumors among Japanese. Jpn J Cancer Res. 2001;92:494-498.
36. Gastrointestinal stromal tumors. ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2012; 23(suppl 7):vii49-vii55.
37. von Mehren M, Benjamin RS, Bui MM, et al. Soft tissue sarcoma, version 2.2012: featured updates to the NCCN guidelines. J Natl Compr Canc Netw. 2012;10:951-960.