KIT expression in angiosarcomas and fetal endothelial cells: Lack of mutations of Exon 11 and Exon 17 of C-kit

Modern Pathology

Volumn 13, Issue 5, 2000, Pages 536-541

  Miettinen, Markku ^a   Sarlomo Rikala, Maarit ^b   Lasota, Jerzy ^a  

^a ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Genetics; KIT; Vascular tumors

Indexed keywords

PROTEIN TYROSINE KINASE; STEM CELL FACTOR;

ANGIOSARCOMA; ANTIGEN EXPRESSION; ARTICLE; EMBRYO DEVELOPMENT; ENDOTHELIUM CELL; EPITHELIUM CELL; EXON; FETUS CELL; GENE MUTATION; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN TISSUE; NEOVASCULARIZATION (PATHOLOGY); POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTO ONCOGENE; STEM CELL;

EID: 0034083341     PISSN: 08933952     EISSN: None     Source Type: Journal    
DOI: 10.1038/modpathol.3880093     Document Type: Article

References (28)

1. Yarden Y, Kuang WS, Yang-Fend T, Coussens L, Munemitsas S, Dull TJ. Human proto-oncogene kit, a new cell surface-receptor tyrosine kinase for an unidentified ligand. EMBO J 1987;6:3341-51.
2. Williams DE, Eisenman J, Baird A, Rauch C, van Ness K, March CJ, et al. Identification of a ligand for the c-kit proto-oncogene. Cell 1990;63:167-74.
3. Zsebo KM, Williams DA, Geissler EN, Broudy WL, Martin FH, Atkins HL, et al. Stem cell factor is encoded at the SI locus of the mouse and is ligand for the c-kit tyrosine kinase receptor. Cell 1990;63:214-24.
4. Vliagoftis H, Worobec AS, Metcalfe DD. The proto-oncogene c-kit and c-kit ligand in human disease. J Allergy Clin Immunol 1997;100:435-40.
5. Tsuura Y, Hiraki H, Watanabe K, Igarashi S, Shimamura K, Fukuda T. Preferential localization of c-kit product in tissue mast cells, basal cells of skin, epithelial cells of breast, small cell lung carcinoma and seminoma/dysgerminoma in human: immunohistochemical study of formalin-fixed, paraffin-embedded tissues. Virchows Arch 1994;424:135-41.
6. Maeda H, Yamagata A, Nishikawa S, Yoshinaga K, Kobayshy S, Nishi K, et al Requirement of c-kit for development of intestinal pacemaker system. Development 1992;116:369-75.
7. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998;279:577-80.
8. Kindblom LG, Remotti HE, Aldenborg F, Meis-Kindblom JM. Gastrointestinal pacemaker cell tumor (GIPACT). Gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 1998; 152:1259-69.
9. Sarlomo-Rikala M, Kovatich A, Barusevicius A, Miettinen M. CD117: a sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol 1998;11: 728-34.
10. Sircar K, Hewlett BR, Huizinga JD, Chorneyko K, Berezin I, Riddell RH. Interstitial cells of Cajal as precursors for gastrointestinal stromal tumors. Am J Surg Pathol 1999;23:377-89.
11. Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, et al. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest 1993;92:1736-44.
12. Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, et al. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat Genet 1996;12:312-4.
13. Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, et al. Identification of a point mutation in the catalytic domain of the proto-oncogene 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;92:10560-5.
14. Nakahara M, Isozaki K, Hirota S, Miyagawa J-I, Hase-Sawada N, Taniguchi M, et al. A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. Gastroenterology 1998;115:1090-5.
15. Kitamura Y, Hirota S, Nishida T. Molecular pathology of c-kit proto-oncogen and development of gastrointestinal stromal tumors. Ann Chir Gynecol 1998;87:282-6.
16. Lasota J, Jasinski M, Sarlomo-Rikala M, Miettinen M. Mutations in exon 11 of c-kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas and leiomyosarcomas. Am J Pathol 1999;154:53-60.
17. Ernst SI, Hubbs AE, Przygodzki RM, Emory TS, Sobin LH, O'Leary TJ. KIT mutation portends poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab Invest 1998; 78:1633-6.
18. Moskaluk CR, Tian Q, Marshall CR, Rumpel CA, Franquemont DW, Frierson HF. Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors. Oncogene 1999;18:1897-902.
19. Tian Q, Frierson HF, Kruystal GW, Moskaluk CR. Activating c-kit gene mutations in human germ cell tumors. Am J Pathol 1999;154:1643-7.
20. Miettinen M, Virolainen M, Sarlomo-Rikala M. Gastrointestinal stromal tumors - value of CD34 antigen in their identification and separation from true leiomyomas and schwannomas. Am J Surg Pathol 1995;19:207-16.
21. Lammie A, Drobnjak M, Gerald W, Saad A, Cote R, Cordon-Cardo C. Expression of c-kit and kit ligand proteins in normal human tissues. J Histochem Cytochem 1994;42:1417-25.
22. Natali PG, Nicotra MR, Nicotra R, Sures I, Santora E, Bigotti E, et al. Expression of c-kit receptor in normal and transformed human nonlymphoid tissues. Cancer Res 1992;6139-43.
23. Arber DA, Tamayo R, Weiss LM. Paraffin section detection of the c-kit gene product (CD117) in human tissues: value in the diagnosis of mast cell disorders. Hum Pathol 1998;29: 498-504.
24. Yoshida H, Takakura N, Hirashima M, Kataoka H, Tsuchida K, Nishikawa S. Hematopoietic tissues, as a playground of receptor tyrosine kinases of the PDGF-receptor family. Dev Comp Immunol 1998;22:321-32.
25. Bernex F, De Sepulveda P, Kress C, Elbaz C, Delouis C, Panthier JJ. Spatial and temporal patterns of c-kit expressing cells in WlacZ/+ and WlacZ/WlacZ mouse embryos. Development 1996;122:3023-33.
26. Yamaguchi H, Ishii E, Saito S, Tashiro K, Fujita I, Yoshidomi S, et al. Umbilical vein endothelial cells are an important source of c-kit and stem cell factor which regulate the proliferation of hemopoietic progenitor cells. Br J Haematol 1996;94:606-11.
27. Doneda L, Bulfamante G, Grimoldi MG, Volpi L, Larizza L. Localization of fos, jun, kit and SCF mRNA in human placenta throughout gestation using in situ RT-PCR. Early Pregnancy 1997;3:265-71.
28. Holst VA, Marshall CE, Moskaluk CA, Frierson HF. KIT protein expression and analysis of c-kit gene mutation in adenoid cystic carcinoma. Mod Pathol 1999;12:956-60.