c-KIT mutation analysis for diagnosis of gastrointestinal stromal tumors in fine needle aspiration specimens

Cancer

Volumn 105, Issue 3, 2005, Pages 165-170

  Willmore Payne, Carlynn ^a   Layfield, Lester J ^b   Holden, Joseph A ^b  

^a ARUP LABORATORIES   (United States)

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

Author keywords

c KIT; Fine needle aspiration; GIST; High resolution amplicon melting analysis

Indexed keywords

STEM CELL FACTOR;

AMPLICON; ARTICLE; ASPIRATION BIOPSY; CANCER CYTODIAGNOSIS; CLINICAL ARTICLE; CYTOPATHOLOGY; DNA ISOLATION; DNA SEQUENCE; EXON; GASTROINTESTINAL STROMAL TUMOR; GASTROINTESTINAL TRACT; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPINDLE CELL CARCINOMA; ZYGOSITY;

BASE SEQUENCE; BIOPSY, FINE-NEEDLE; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GASTROINTESTINAL STROMAL TUMORS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-KIT; RETROSPECTIVE STUDIES; SAMPLING STUDIES; SENSITIVITY AND SPECIFICITY;

EID: 20944449595     PISSN: 0008543X     EISSN: None     Source Type: Journal    
DOI: 10.1002/cncr.21064     Document Type: Article

References (22)

1. Huizinga JD, Thuneberg L, Kluppel M, et al. W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity. Nature. 1995;373:347-349.
2. 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.
3. Tuveson DA, Willis NA, Jack T, et al. STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications. Oncogene. 2001;20:5054-5058.
4. Fletcher CD, Berman JJ, Corless C, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol. 2002;33:459-465.
5. Medeiros F, Corless CL, Duensing A, Hornick JL, et al. KIT-negative gastrointestinal stromal tumors. Proof of concept and therapeutic implications. Am J Surg Pathol. 2004;28:889-894.
6. Montgomery E, Torbenson MS, Kaushal M, Fisher C, Abraham SC. B-catenin immunohistochemistry separates mesenteric fibromatosis from gastrointestinal stromal tumor and sclerosing mesenteritis. Am J Surg Pathol. 2002;26:1296-1301.
7. Miettinen M, Virolainen M, Maarit Sarlomo R. Gastrointestinal stromal tumors: value of CD34 antigen in their identification and separation from true leiomyomas and schwannomas. Am J Surg Pathol. 1995;19:207-216.
8. Rubin BP, Singer S, Tsao C, et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res. 2001;61:8118-8121.
9. Heinrich MC, Rubin BP, Langley BJ, et al. Biology and genetic aspects of gastrointestinal stromal tumors: KIT activation and cytogenetic alterations. Hum Pathol. 2002;33:484-495.
10. 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.
11. Dodd LG, Nelson RC, Mooney EE, Gottfried M. Fine-needle aspiration of gastrointestinal stromal tumors. Am J Clin Pathol. 1998;109:439-443.
12. Gu M, Ghafari S, Nguyen PT, Lin F. Cytologic diagnosis of gastrointestinal stromal tumors of the stomach by endoscopic ultrasound-guided fine-needle aspiration biopsy: cytomorphologic and immunohistochemical study of 12 cases. Diagn Cytopathol. 2001;25:343-350.
13. Rader AE, Avery A, Wait CL, McGreevey LS, Faigel D, Heinrich MC. Pine-needle aspiration biopsy diagnosis of gastrointestinal stromal tumors using morphology, immunocytochemistry, and mutational analysis of c-KIT. Cancer (Cancer Cytopathol). 2001;93:269-275.
14. Seidal T, Edvardsson H. Diagnosis of gastrointestinal stromal tumor by fine-needle aspiration biopsy: a cytological and immunocytochemical study. Diagn Cytopathol. 2000;23:397-401.
15. Wieczorek TJ, Faquin WC, Rubin BP, Cibas ES. Cytologic diagnosis of gastrointestinal stromal tumor with emphasis on the differential diagnosis with leiomyosarcoma. Cancer (Cancer Cytopathol). 2001;93:276-287.
16. Dong Q, McKee G, Pitman M, Geisinger K, Tambouret R. Epithelioid variant of gastrointestinal stromal tumor: diagnosis by fine-needle aspiration. Diagn Cytopathol. 2003;29:55-60.
17. Li SQ, O'Leary TJ, Buchner SB, Przygodzki RM, Sobin LH, Erozan YS, Rosenthal DL. Fine needle aspiration of gastrointestinal stromal tumors. Acta Cytologica. 2001;45:9-17.
18. Demetri GD, Titton RL, Ryan DP, Fletcher CDM. Case 32-2004: A 68-year-old man with a large retroperitoneal mass. N Eng J Med. 2004;351:1779-1787.
19. Willmore C, Holden JA, Zhou L, Tripp S, Wittwer CT, Layfield LJ. Detection of C-KIT activating mutations in gastrointestinal stromal tumors by high resolution amlicon melting analysis. AJCP. 2004;122:206-216.
20. Sarlomo-Rikala M, Kovatich AJ, Barusevicius A, Miettinen M. CD117: a sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol. 1998;11:728-734.
21. Sicar K, Hewlett BR, Huizinga JD, Choreyko K, Berezin I, Riddell RH. Interstitial cells of Cajal as precursor of gastrointestinal stromal tumors. Am J Surg Pathol. 1999;23:377-389.
22. Li SQ, O'Leary TJ, Buchner SB, et al. Fine-needle aspiration of gastrointestinal stromal tumors. ACTA Cytol. 2001;45:9-17.