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Volumn 202, Issue 1, 2004, Pages 80-85

Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type I patients

Author keywords

c kit gene mutation; Gastrointestinal stromal tumour; Neurofibromatosis type 1; NF1 gene mutation

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; NEUROFIBROMIN; STEM CELL FACTOR;

EID: 0346025449     PISSN: 00223417     EISSN: None     Source Type: Journal    
DOI: 10.1002/path.1487     Document Type: Article
Times cited : (172)

References (43)
  • 1
    • 0000179986 scopus 로고    scopus 로고
    • Gastrointestinal tract
    • (8th edn), Rosai J (ed). Mosby: St Louis
    • Fishman AP. Gastrointestinal tract. In Ackerman's Surgical Pathology (8th edn), Rosai J (ed). Mosby: St Louis, 1996; 645-647.
    • (1996) Ackerman's Surgical Pathology , pp. 645-647
    • Fishman, A.P.1
  • 2
    • 15644363454 scopus 로고    scopus 로고
    • Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors
    • 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.
    • (1998) Science , vol.279 , pp. 577-580
    • Hirota, S.1    Isozaki, K.2    Moriyama, Y.3
  • 3
    • 0031947592 scopus 로고    scopus 로고
    • Gastrointestinal pacemaker cell tumor (GIPACT): Gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal
    • 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: 1259-1269.
    • (1998) Am. J. Pathol. , vol.152 , pp. 1259-1269
    • Kindblom, L.G.1    Remotti, H.E.2    Aldenborg, F.3    Meis-Kindblom, J.M.4
  • 5
    • 0022626874 scopus 로고
    • A new acute transforming feline retrovirus and relationship of its oncogene v-kit with the protein kinase gene family
    • Besmer P, Murphy JE, George PC, et al. A new acute transforming feline retrovirus and relationship of its oncogene v-kit with the protein kinase gene family. Nature 1986; 320: 415-421.
    • (1986) Nature , vol.320 , pp. 415-421
    • Besmer, P.1    Murphy, J.E.2    George, P.C.3
  • 6
    • 0023694835 scopus 로고
    • The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus
    • Chabot B, Stephenson DA, Chapman VM, Besmer P, Bernstein A. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 1988; 335: 88-89.
    • (1988) Nature , vol.335 , pp. 88-89
    • Chabot, B.1    Stephenson, D.A.2    Chapman, V.M.3    Besmer, P.4    Bernstein, A.5
  • 7
    • 0024280901 scopus 로고
    • The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene
    • Geissler EN, Ryan MA, Housman DE. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell 1988; 55: 185-192.
    • (1988) Cell , vol.55 , pp. 185-192
    • Geissler, E.N.1    Ryan, M.A.2    Housman, D.E.3
  • 8
    • 0025013548 scopus 로고
    • Identification of a ligand for the c-kit proto-oncogene
    • Williams DE, Eisenman J, Baird A, et al. Identification of a ligand for the c-kit proto-oncogene. Cell 1990; 63: 167-174.
    • (1990) Cell , vol.63 , pp. 167-174
    • Williams, D.E.1    Eisenman, J.2    Baird, A.3
  • 9
    • 0033199890 scopus 로고    scopus 로고
    • Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors
    • 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.
    • (1999) Cancer Res. , vol.59 , pp. 4297-4300
    • Taniguchi, M.1    Nishida, T.2    Hirota, S.3
  • 10
    • 0036240932 scopus 로고    scopus 로고
    • Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene
    • 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.
    • (2002) Gastroenterology , vol.122 , pp. 1493-1499
    • Hirota, S.1    Nishida, T.2    Isozaki, K.3
  • 11
    • 0037298918 scopus 로고    scopus 로고
    • c-kit gene mutation at exon 17 or 13 is very rare in sporadic gastrointestinal stromal tumors
    • Kinoshita K, Isozaki K, Hirota S, et al. c-kit gene mutation at exon 17 or 13 is very rare in sporadic gastrointestinal stromal tumors. J Gastroenterol Hepatol 2003; 18: 147-151.
    • (2003) J. Gastroenterol. Hepatol. , vol.18 , pp. 147-151
    • Kinoshita, K.1    Isozaki, K.2    Hirota, S.3
  • 12
    • 0031848146 scopus 로고    scopus 로고
    • Familial gastrointestinal stromal tumours with germline mutation of the KIT gene
    • Nishida T, Hirota S, Taniguchi M, et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nature Genet 1998; 19: 323-324.
    • (1998) Nature Genet. , vol.19 , pp. 323-324
    • Nishida, T.1    Hirota, S.2    Taniguchi, M.3
  • 13
    • 0033971263 scopus 로고    scopus 로고
    • Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene
    • Hirota S, Okazaki T, Kitamura Y, O'Brien P, Kapusta L, Dardick I. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am J Surg Pathol 2000; 24: 326-327.
    • (2000) Am. J. Surg. Pathol. , vol.24 , pp. 326-327
    • Hirota, S.1    Okazaki, T.2    Kitamura, Y.3    O'Brien, P.4    Kapusta, L.5    Dardick, I.6
  • 14
    • 0033678402 scopus 로고    scopus 로고
    • Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors
    • Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am J Pathol 2000; 157: 1581-1585.
    • (2000) Am. J. Pathol. , vol.157 , pp. 1581-1585
    • Isozaki, K.1    Terris, B.2    Belghiti, J.3    Schiffmann, S.4    Hirota, S.5    Vanderwinden, J.M.6
  • 15
    • 0036240932 scopus 로고    scopus 로고
    • Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene
    • 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.
    • (2002) Gastroenterology , vol.122 , pp. 1493-1499
    • Hirota, S.1    Nishida, T.2    Isozaki, K.3
  • 16
    • 0025326726 scopus 로고
    • A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
    • Cawthon RM, Weiss R, Xu GF, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990; 62: 193-201.
    • (1990) Cell , vol.62 , pp. 193-201
    • Cawthon, R.M.1    Weiss, R.2    Xu, G.F.3
  • 17
    • 0025369709 scopus 로고
    • Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
    • Viskochil D, Buchberg AM, Xu G, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62: 187-192.
    • (1990) Cell , vol.62 , pp. 187-192
    • Viskochil, D.1    Buchberg, A.M.2    Xu, G.3
  • 18
    • 0025297599 scopus 로고
    • Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
    • Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990; 249: 181-186.
    • (1990) Science , vol.249 , pp. 181-186
    • Wallace, M.R.1    Marchuk, D.A.2    Andersen, L.B.3
  • 19
    • 0025091465 scopus 로고
    • The neurofibromatosis type 1 gene encodes a protein related to GAP
    • Xu GF, O'Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62: 599-608.
    • (1990) Cell , vol.62 , pp. 599-608
    • Xu, G.F.1    O'Connell, P.2    Viskochil, D.3
  • 21
    • 0023885121 scopus 로고
    • National Institute of Health Consensus Development Conference: Neurofibromatosis conference statement
    • National Institute of Health Consensus Development Conference: Neurofibromatosis conference statement. Arch Neurol 1988; 45: 575-578.
    • (1988) Arch. Neurol. , vol.45 , pp. 575-578
  • 22
    • 0036688764 scopus 로고    scopus 로고
    • NF1 mutations and molecular testing
    • discussion 571-572, 646-651
    • Thomson SA, Fishbein L, Wallace MR. NF1 mutations and molecular testing. J Child Neurol 2002; 17: 555-561; discussion 571-572, 646-651.
    • (2002) J. Child. Neurol. , vol.17 , pp. 555-561
    • Thomson, S.A.1    Fishbein, L.2    Wallace, M.R.3
  • 23
    • 0024205878 scopus 로고
    • Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
    • Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988; 111: 1355-1381.
    • (1988) Brain , vol.111 , pp. 1355-1381
    • Huson, S.M.1    Harper, P.S.2    Compston, D.A.3
  • 24
    • 0019834061 scopus 로고
    • Von Recklinghausen neurofibromatosis
    • Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981; 305: 1617-1627.
    • (1981) N. Engl. J. Med. , vol.305 , pp. 1617-1627
    • Riccardi, V.M.1
  • 25
    • 0025740382 scopus 로고
    • Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease)
    • Fuller CE, Williams GT. Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 1991; 19: 1-11.
    • (1991) Histopathology , vol.19 , pp. 1-11
    • Fuller, C.E.1    Williams, G.T.2
  • 26
  • 27
    • 0030960182 scopus 로고    scopus 로고
    • Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population
    • Zoller ME, Rembeck B, Oden A, Samuelsson M, Angervall L. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 1997; 79: 2125-2131.
    • (1997) Cancer , vol.79 , pp. 2125-2131
    • Zoller, M.E.1    Rembeck, B.2    Oden, A.3    Samuelsson, M.4    Angervall, L.5
  • 28
    • 0027484957 scopus 로고
    • Small intestinal stromal tumors with skeinoid fibers in neurofibromatosis: Report of four cases with ultrastructural study of skeinoid fibers from paraffin blocks
    • Min KW, Balaton AJ. Small intestinal stromal tumors with skeinoid fibers in neurofibromatosis: report of four cases with ultrastructural study of skeinoid fibers from paraffin blocks. Ultrastruct Pathol 1993; 17: 307-314.
    • (1993) Ultrastruct. Pathol. , vol.17 , pp. 307-314
    • Min, K.W.1    Balaton, A.J.2
  • 29
    • 0029760223 scopus 로고    scopus 로고
    • Multiple small intestinal stromal tumors with skeinoid fibers in association with neurofibromatosis 1 (von Recklinghausen's disease)
    • Ishida T, Wada I, Horiuchi H, Oka T, Machinami R. Multiple small intestinal stromal tumors with skeinoid fibers in association with neurofibromatosis 1 (von Recklinghausen's disease). Pathol Int 1996; 46: 689-695.
    • (1996) Pathol. Int. , vol.46 , pp. 689-695
    • Ishida, T.1    Wada, I.2    Horiuchi, H.3    Oka, T.4    Machinami, R.5
  • 30
    • 0026505197 scopus 로고
    • Somatic mutations in the neurofibromatosis 1 gene in human tumors
    • Li Y, Bollag G, Clark R, et al. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 1992; 69: 275-281.
    • (1992) Cell , vol.69 , pp. 275-281
    • Li, Y.1    Bollag, G.2    Clark, R.3
  • 31
    • 0028843443 scopus 로고
    • Expression of bone matrix protein messenger ribonucleic acids in human breast cancers. Possible involvement of osteopontin in development of calcifying foci
    • Hirota S, Ito A, Nagoshi J, et al. Expression of bone matrix protein messenger ribonucleic acids in human breast cancers. Possible involvement of osteopontin in development of calcifying foci. Lab Invest 1995; 72: 64-69.
    • (1995) Lab. Invest. , vol.72 , pp. 64-69
    • Hirota, S.1    Ito, A.2    Nagoshi, J.3
  • 32
    • 0018639079 scopus 로고
    • Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
    • Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 1979; 18: 5294-5299.
    • (1979) Biochemistry , vol.18 , pp. 5294-5299
    • Chirgwin, J.M.1    Przybyla, A.E.2    MacDonald, R.J.3    Rutter, W.J.4
  • 33
    • 0036895022 scopus 로고    scopus 로고
    • Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours
    • Chen H, Hirota S, Isozaki K, et al. Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours. Gut 2002; 51: 793-796.
    • (2002) Gut , vol.51 , pp. 793-796
    • Chen, H.1    Hirota, S.2    Isozaki, K.3
  • 34
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000; 15: 541-555.
    • (2000) Hum. Mutat. , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3
  • 35
    • 0027732538 scopus 로고
    • Proteins regulating Ras and its relatives
    • Boguski MS, McCormick F. Proteins regulating Ras and its relatives. Nature 1993; 366: 643-654.
    • (1993) Nature , vol.366 , pp. 643-654
    • Boguski, M.S.1    McCormick, F.2
  • 36
    • 0027468594 scopus 로고
    • Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis
    • Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genet 1993; 3: 122-126.
    • (1993) Nature Genet. , vol.3 , pp. 122-126
    • Legius, E.1    Marchuk, D.A.2    Collins, F.S.3    Glover, T.W.4
  • 37
    • 0028464349 scopus 로고
    • Regulation of the Ras signalling network
    • Maruta H, Burgess AW. Regulation of the Ras signalling network. Bioessays 1994; 16: 489-496.
    • (1994) Bioessays , vol.16 , pp. 489-496
    • Maruta, H.1    Burgess, A.W.2
  • 38
    • 0032828882 scopus 로고    scopus 로고
    • Early signaling pathways activated by c-Kit in hematopoietic cells
    • Linnekin D. Early signaling pathways activated by c-Kit in hematopoietic cells. Int J Biochem Cell Biol 1999; 31: 1053-1074.
    • (1999) Int. J. Biochem. Cell Biol. , vol.31 , pp. 1053-1074
    • Linnekin, D.1
  • 39
    • 0035383812 scopus 로고    scopus 로고
    • Signal transducer and activator of transcription 3 activation is required for Asp(816) mutant c-Kit-mediated cytokine-independent survival and proliferation in human leukemia cells
    • Ning ZQ, Li J, Arceci RJ. Signal transducer and activator of transcription 3 activation is required for Asp(816) mutant c-Kit-mediated cytokine-independent survival and proliferation in human leukemia cells. Blood 2001; 97: 3559-3567.
    • (2001) Blood , vol.97 , pp. 3559-3567
    • Ning, Z.Q.1    Li, J.2    Arceci, R.J.3
  • 40
    • 0036493872 scopus 로고    scopus 로고
    • 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
    • Ma Y, Zeng S, Metcalfe DD, 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 2002; 99: 1741-1744.
    • (2002) Blood , vol.99 , pp. 1741-1744
    • Ma, Y.1    Zeng, S.2    Metcalfe, D.D.3
  • 41
    • 0035810148 scopus 로고    scopus 로고
    • Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor
    • 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.
    • (2001) N. Engl. J. Med. , vol.344 , pp. 1052-1056
    • Joensuu, H.1    Roberts, P.J.2    Sarlomo-Rikala, M.3
  • 42
    • 0037103424 scopus 로고    scopus 로고
    • Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors
    • 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.
    • (2002) N. Engl. J. Med. , vol.347 , pp. 472-480
    • Demetri, G.D.1    von Mehren, M.2    Blanke, C.D.3
  • 43
    • 0036305274 scopus 로고    scopus 로고
    • Clinical management of gastrointestinal stromal tumors: Before and after STI-571
    • Dematteo RP, Heinrich MC, El-Rifai WM, Demetri G. Clinical management of gastrointestinal stromal tumors: before and after STI-571. Hum Pathol 2002; 33: 466-477.
    • (2002) Hum. Pathol. , vol.33 , pp. 466-477
    • Dematteo, R.P.1    Heinrich, M.C.2    El-Rifai, W.M.3    Demetri, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.