c-kit gene mutation: Common and widely distributed in intracranial germinomas

Journal of Neurosurgery

Volumn 104 PEDIATRICS, Issue SUPPL. 3, 2006, Pages 173-180

  Kamakura, Yayoi ^b   Hasegawa, Mitsuhiro ^b   Minamoto, Toshinari ^b   Yamashita, Junkoh ^b   Fujisawa, Hironori ^a  

^a Fujii Neurosurgical Hospital   (Japan)

^b NONE

Author keywords

c kit mutation; CD34; Germinoma; Immunohistochemistry; KIT; Pediatric neurosurgery

Indexed keywords

CD34 ANTIGEN; STEM CELL FACTOR; STEM CELL FACTOR RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CHORIOCARCINOMA; CLINICAL ARTICLE; DEMOGRAPHY; FEMALE; GERM CELL TUMOR; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; SCHOOL CHILD; TERATOMA; YOLK SAC TUMOR; BIOSYNTHESIS; BRAIN TUMOR; CHILD; GENE EXPRESSION PROFILING; GENETICS; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADOLESCENT; ADULT; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GERMINOMA; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-KIT;

EID: 33645740589     PISSN: 00223085     EISSN: 00223085     Source Type: Journal    
DOI: 10.3171/ped.2006.104.3.173     Document Type: Article

References (59)

1. -, colony-forming cell. J Immunol 151:4221-4227, 1993
2. Aoyama H, Shirato H, Ikeda J, Fujieda K, Miyasaka K, Sawamura Y: Induction chemotherapy followed by low-dose involved-field radiotherapy for intracranial germ cell tumors. J Clin Oncol 20:857-865, 2002
3. Beghini A, Cairoli R, Morra E, Larizza L: In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent c-kit mutation. Blood Cells Mol Dis 24:262-270, 1998
4. Ben Amor S, Siddiqui K, Baessa S: Primary midbrain germinoma. Br J Neurosurg 18:310-313, 2004
5. Bentley AJ, Parkinson MC, Harding BN, Bains RM, Lantos PL: A comparative morphological and immunohistochemical study of testicular seminomas and intracranial germinomas. Histopathology 17:443-449, 1990
6. Bleyer WA: Epidemiologic impact of children with brain tumors. Childs Nerv Syst 15:758-763, 1999
7. Buttner C, Henz BM, Welker P, Sepp NT, Grabbe J: Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behavior. J Invest Dermatol 111:1227-1231, 1998
8. Colosimo C, di Lella GM, Tartaglione T, Riccardi R: Neuroimaging of thalamic tumors in children. Childs Nerv Syst 18: 426-439, 2002
9. Committee of Brain Tumor Registry of Japan: Report of Brain Tumor Registry of Japan (1969-1996). Neurol Med Chir 43 (Suppl):1-111, 2003
10. Corless CL, Fletcher JA, Heinrich MC: Biology of gastrointestinal stromal tumors. J Clin Oncol 22:3813-3825, 2004
11. Duensing A, Heinrich MC, Fletcher CD, Fletcher JA: Biology of gastrointestinal stromal tumors: KIT mutations and beyond. Cancer Invest 22:106-116, 2004
12. 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 78: 1633-1636, 1998
13. Féger F, Ribadeau Dumas A, Leriche L, Valent P, Arock M: Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts. Int Arch Allergy Immunol 127:110-114, 2002
14. Frost MJ, Ferrao PT, Hughes TP, Ashman LK: Juxtamembrane mutant V560GKit is more sensitive to Imatinib (STI571) compared with wild-type c-kit whereas the kinase domain mutant D816VKit is resistant. Mol Cancer Ther 1:1115-1124, 2002
15. Fujisawa H, Kurrer M, Reis RM, Yonekawa Y, Kleihues P, Ohgaki H: Acquisition of the glioblastoma phenotype during astrocytoma progression is associated with loss of heterozygosity on 10q25-qter. Am J Pathol 155:387-394, 1999
16. Fujisawa H, Marukawa K, Hasegawa M, Tohma Y, Hayashi Y, Uchiyama N, et al: Genetic differences between neurocytoma and dysembryoplastic neuroepithelial tumor and oligodendroglial tumors. J Neurosurg 97:1350-1355, 2002
17. Gari M, Goodeve A, Wilson G, Winship P, Langabeer S, Linch D, et al: c-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia. Br J Haematol 105:894-900, 1999
18. Gokden M, Roth KA, Carroll SL, Wick MR, Schmidt RE: Clear cell neoplasms and pseudoneoplastic lesions of the central nervous system. Semin Diagn Pathol 14:253-269, 1997
19. Hamazaki S, Okada S: Expression of CD34 antigen in testicular mixed germ cell tumor. Pathol Int 53:853-857, 2003
20. Heinrich MC, Blanke CD, Druker BJ, Corless CL: Inhibition of KIT tyrosine kinase activity: a novel molecular approach to the treatment of KIT-positive malignancies. J Clin Oncol 20: 1692-1703, 2002
21. Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, et al: Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 21:4342-4349, 2003
22. Hibi K, Takahashi T, Sekido Y, Ueda R, Hida T, Ariyoshi Y, et al: Coexpression of the stem cell factor and the c-kit genes in small-cell lung cancer. Oncogene 6:2291-2296, 1991
23. 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 279:577-580, 1998
24. Horie K, Fujita J, Takakura K, Kanzaki H, Suginami H, Iwai M, et al: The expression of c-kit protein in human adult and fetal tissues. Hum Reprod 8:1955-1962, 1993
25. Hou YY, Tan YS, Sun MH, Wei YK, Xu JF, Lu SH, et al: C-kit gene mutation in human gastrointestinal stromal tumors. World J Gastroenterol 10:1310-1314, 2004
26. Huang JH, Tsui I, Judkins AR, Simon E, Birknes JK, Sutton LN: Intramedullary cervical spine germinoma: case report. Neurosurgery 55:1432, 2004
27. Iwato M, Tachibana O, Tohma Y, Arakawa Y, Nitta H, Hasegawa M, et al: Alterations of the INK4a/ARF locus in human intracranial germ cell tumors. Cancer Res 60:2113-2115, 2000
28. Iwato M, Tachibana O, Tohma Y, Nitta H, Hayashi Y, Yamashita J: Molecular analysis for p53 and mdm2 in intracranial germ cell tumors. Acta Neuropathol 99:21-25, 2000
29. Izquierdo MA, Van der Valk P, Van Ark-Otte J, Rubio G, Germa-Lluch JR, Ueda R, et al: Differential expression of the ckit proto-oncogene in germ cell tumours. J Pathol 177:253-258, 1995
30. Kemmer K, Corless CL, Fletcher JA, McGreevey L, Haley A, Griffith D, et al: KIT mutations are common in testicular seminomas. Am J Pathol 164:305-313, 2004
31. Kimura A, Nakata Y, Katoh O, Hyodo H: c-kit point mutation in patients with myeloproliferative disorders. Leuk Lymphoma 25:281-287, 1997
32. Kleihues P, Cavenee W: World Health Organization Classification of Tumours: Pathology and Genetics: Tumours of the Nervous System. Lyon: IARC Press, 2000
33. Kochi M, Itoyama Y, Shiraishi S, Kitamura I, Marubayashi T, Ushio Y: Successful treatment of intracranial nongerminomatous malignant germ cell tumors by administering neoadjuvant chemotherapy and radiotherapy before excision of residual tumors. J Neurosurg 99:106-114, 2003
34. Krause DS, Fackler MJ, Civin CI, May WS: CD34: structure, biology, and clinical utility. Blood 87:1-13, 1996
35. 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 42:1417-1425, 1994
36. 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 12:312-314, 1996
37. Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, et al: Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci U S A 96:1609-1614, 1999
38. Looijenga LH, de Leeuw H, van Oorschot M, van Gurp RJHLM, Stoop H, Gillis AJM, et al: Stem cell factor receptor (c-KIT) codon 816 mutations predict development of bilateral testicular germ-cell tumors. Cancer Res 63:7674-7678, 2003
39. Ma Y, Zeng S, Metcalfe DD, Akin C, Dimitrijevic S, Butterfield JH, et al: The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. Blood 99:1741-1744, 2002
40. Mechtersheimer G, Egerer G, Hensel M, Rieker RJ, Libicher M, Lehnert T, et al: Gastrointestinal stromal tumours and their response to treatment with the tyrosine kinase inhibitor imatinib. Virchows Arch 444:108-118, 2004
41. Miyanohara O, Takeshima H, Kaji M, Hirano H, Sawamura Y, Kochi M, et al: Diagnostic significance of soluble c-kit in the cerebrospinal fluid of patients with germ cell tumors. J Neurosurg 97:177-183, 2002
42. Miyashita K, Hayashi Y, Fujisawa H, Hasegawa M, Yamashita J: Recurrent intracranial solitary fibrous tumor with cerebrospinal fluid dissemination. Case report. J Neurosurg 101:1045-1048, 2004
43. 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 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 92:10560-10564, 1995
44. Nakata Y, Kimura A, Katoh O, Kawaishi K, Hyodo H, Abe K, et al: c-kit point mutation of extracellular domain in patients with myeloproliferative disorders. Br J Haematol 91:661-663, 1995
45. Okada Y, Nishikawa R, Matsutani M, Louis DN: Hypomethylated X chromosome gain and rare isochromosome 12p in diverse intracranial germ cell tumors. J Neuropathol Exp Neurol 61:531-538, 2002
46. Okai T, Minamoto T, Ohtsubo K, Minato H, Kurumaya H, Oda Y, et al: Endosonographic evaluation of c-kit-positive gastrointestinal stromal tumor. Abdom Imaging 28:301-307, 2003
47. Packer RJ, Cohen BH, Cooney K: Intracranial germ cell tumors. Oncologist 5:312-320, 2000
48. Pardanani A, Elliott M, Reeder T, Li CY, Baxter EJ, Cross NC, et al: Imatinib for systemic mast-cell disease. Lancet 362: 535-536, 2003
49. Przygodzki RM, Hubbs AE, Zhao FQ, O'Leary TJ: Primary mediastinal seminomas: evidence of single and multiple KIT mutations. Lab Invest 82:1369-1375, 2002
50. Robinson TL, Sircar K, Hewlett BR, Chorneyko K, Riddell RH, Huizinga JD: Gastrointestinal stromal tumors may originate from a subset of CD34-positive interstitial cells of Cajal. Am J Pathol 156:1157-1163, 2000
51. Rubin BP, Singer S, Tsao C, Duensing A, Lux ML, Ruiz R, et al: KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 61:8118-8121, 2001
52. Sakuma Y, Sakurai S, Oguni S, Hironaka M, Saito K: Alterations of the c-kit gene in testicular germ cell tumors. Cancer Sci 94:486-491, 2003
53. Sakuma Y, Sakurai S, Oguni S, Satoh M, Hironaka M, Saito K: c-kit gene mutations in intracranial germinomas. Cancer Sci 95:716-720, 2004
54. Simon R, Panussis S, Maurer R, Spichtin H, Glatz K, Tapia C, et al: KIT (CD117)-positive breast cancers are infrequent and lack KIT gene mutations. Clin Cancer Res 10:178-183, 2004
55. Singer S, Rubin BP, Lux ML, Chen CJ, Demetri GD, Fletcher CDM, et al: Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors. J Clin Oncol 20:3898-3905, 2002
56. Spritz 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 50:261-269, 1992
57. Taniguchi M, Nishida T, Hirota S, Isozaki K, Ito T, Nomura T, et al: Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res 59:4297-4300, 1999
58. Tian Q, Frierson HF Jr, Krystal GW, Moskaluk CA: Activating c-kit gene mutations in human germ cell tumors. Am J Pathol 154:1643-1647, 1999
59. Yen PS, Chou AS, Chen CJ, Jung SM, Chuang HL, Scott RM: Primary medulla oblongata germinoma: a case report and review of the literature. J Neurooncol 62:339-342, 2003