Neurofibromatosis type 1-related gastrointestinal stromal tumors: A special reference to loss of heterozygosity at 14q and 22q

Journal of Cancer Research and Clinical Oncology

Volumn 135, Issue 6, 2009, Pages 791-798

  Yamamoto, Hidetaka ^a   Tobo, Taro ^a   Nakamori, Mari ^a   Imamura, Masakazu ^a   Kojima, Aya ^a   Oda, Yoshinao ^a   Nakamura, Norimoto ^a   Takahira, Tomonari ^a   Yao, Takashi ^a   Tsuneyoshi, Masazumi ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

Gastrointestinal stromal tumor; KIT; Loss of heterozygosity; MAPK; Neurofibromatosis type 1

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; NEUROFIBROMIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; STEM CELL FACTOR;

ADULT; ARTICLE; CANCER PATIENT; CARCINOGENESIS; CELL HYPERPLASIA; CELL PROLIFERATION; CHROMOSOME 14Q; CHROMOSOME 22Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVATION; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTERSTITIAL CELL OF CAJAL; MALE; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; TUMOR VOLUME;

ADULT; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 22; DNA MUTATIONAL ANALYSIS; DUODENUM; FEMALE; GASTROINTESTINAL STROMAL TUMORS; HUMANS; IMMUNOHISTOCHEMISTRY; INTESTINE, SMALL; JEJUNUM; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MITOGEN-ACTIVATED PROTEIN KINASE 1; MITOGEN-ACTIVATED PROTEIN KINASE 3; MUTATION; NEUROFIBROMATOSIS 1; PHOSPHOPROTEINS; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 67349281927     PISSN: 01715216     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00432-008-0514-z     Document Type: Article

References (37)

1. J Andersson H Sihto JM Meis-Kindblom H Joensuu N Nupponen LG Kindblom 2005 NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics Am J Surg Pathol 29 1170 1176 10.1097/01.pas.0000159775.77912.15
2. CR Antonescu G Sommer L Sarran SJ Tschernyavsky E Riedel JM Woodruff M Robson R Maki MF Brennan M Ladanyi RP DeMatteo P Besmer 2003 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 9 3329 3337
3. JA Breiner J Meis-Kindblom LG Kindblom E McComb J Liu M Nelson JA Bridge 2000 Loss of 14q and 22q in gastrointestinal stromal tumors (pacemaker cell tumors) Cancer Genet Cytogenet 120 111 116 10.1016/S0165-4608(00)00212-0
4. H Chen S Hirota K Isozaki H Sun A Ohashi K Kinoshita P O'Brien L Kapusta I Dardick T Obayashi T Okazaki Y Shinomura Y Matsuzawa Y Kitamura 2002 Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours Gut 51 793 796 10.1136/gut.51.6.793
5. A Chompret C Kannengiesser M Barrois P Terrier P Dahan T Tursz GM Lenoir B Bressac-De Paillerets 2004 PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor Gastroenterology 126 318 321 10.1053/j.gastro.2003.10.079
6. A Duensing F Medeiros B McConarty NE Joseph D Panigrahy S Singer CD Fletcher GD Demetri JA Fletcher 2004 Mechanisms of oncogenic KIT signal transduction in primary gastrointestinal stromal tumors (GISTs) Oncogene 23 3999 4006 10.1038/sj.onc.1207525
7. W El-Rifai M Sarlomo-Rikala LC Andersson S Knuutila M Miettinen 2000 DNA sequence copy number changes in gastrointestinal stromal tumors: tumor progression and prognostic significance Cancer Res 60 3899 3903
8. CD Fletcher JJ Berman C Corless F Gorstein J Lasota BJ Longley M Miettinen TJ O'Leary H Remotti BP Rubin B Shmookler LH Sobin SW Weiss 2002 Diagnosis of gastrointestinal stromal tumors: a consensus approach Hum Pathol 33 459 465 10.1053/hupa.2002.123545
9. T Fukasawa JM Chong S Sakurai N Koshiishi R Ikeno A Tanaka Y Matsumoto Y Hayashi M Koike M Fukayama 2000 Allelic loss of 14q and 22q, NF2 mutation, and genetic instability occur independently of c-kit mutation in gastrointestinal stromal tumor Jpn J Cancer Res 91 1241 1249
10. B Gunawan HJ Schulten A von Heydebreck B Schmidt C Enders J Höer C Langer P Schüler CG Schindler J Kuhlgatz L Füzesi 2004 Site-independent prognostic value of chromosome 9q loss in primary gastrointestinal stromal tumours J Pathol 202 421 429 10.1002/path.1537
11. A Handra-Luca H Bilal JC Bertrand P Fouret 2003 Extra-cellular signal-regulated ERK-1/ERK-2 pathway activation in human salivary gland mucoepidermoid carcinoma: association to aggressive tumor behavior and tumor cell proliferation Am J Pathol 163 957 967
12. MC Heinrich CL Corless A Duensing L McGreevey CJ Chen N Joseph S Singer DJ Griffith A Haley A Town GD Demetri CD Fletcher JA Fletcher 2003 PDGFRA activating mutations in gastrointestinal stromal tumors Science 299 708 710 10.1126/science.1079666
13. MC Heinrich CL Corless GD Demetri CD Blanke M von Mehren H Joensuu LS McGreevey CJ Chen AD Van den Abbeele BJ Druker B Kiese B Eisenberg PJ Roberts S Singer CD Fletcher S Silberman S Dimitrijevic JA Fletcher 2003 Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor J Clin Oncol 21 4342 4349 10.1200/JCO.2003.04.190
14. S Hirota K Isozaki Y Moriyama K Hashimoto T Nishida S Ishiguro K Kawano M Hanada A Kurata M Takeda G Muhammad Tunio Y Matsuzawa Y Kanakura Y Shinomura Y Kitamura 1998 Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors Science 279 577 580 10.1126/science.279.5350.577
15. S Hirota A Ohashi T Nishida K Isozaki K Kinoshita Y Shinomura Y Kitamura 2003 Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors Gastroenterology 125 660 667 10.1016/S0016-5085(03)01046-1
16. DA Ingram FC Yang JB Travers MJ Wenning K Hiatt S New A Hood K Shannon DA Williams DW Clapp 2000 Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo J Exp Med 191 181 188 10.1084/jem.191.1.181
17. H Joensuu PJ Roberts M Sarlomo-Rikala LC Andersson P Tervahartiala D Tuveson S Silberman R Capdeville S Dimitrijevic B Druker GD Demetri 2001 Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor N Engl J Med 344 1052 1056 10.1056/ NEJM200104053441404
18. K Kinoshita S Hirota K Isozaki A Ohashi T Nishida Y Kitamura Y Shinomura Y Matsuzawa 2004 Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients J Pathol 202 80 85 10.1002/path.1487
19. DA Largaespada CI Brannan NA Jenkins NG Copeland 1996 Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia Nat Genet 12 137 143 10.1038/ng0296-137
20. J Lasota A Wozniak J Kopczynski A Dansonka-Mieszkowska B Wasag T Mitsuhashi M Sarlomo-Rikala JR Lee R Schneider-Stock J Stachura J Limon M Miettinen 2005 Loss of heterozygosity on chromosome 22q in gastrointestinal stromal tumors (GISTs): a study on 50 cases Lab Invest 85 237 247 10.1038/labinvest.3700218
21. JL Lee JY Kim MH Ryu HJ Kang HM Chang TW Kim H Lee JH Park HC Kim JS Kim YK Kang 2006 Response to imatinib in KIT- and PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1 Dig Dis Sci 51 1043 1046 10.1007/s10620-006-8003-1
22. Y Li G Bollag R Clark J Stevens L Conroy D Fults K Ward E Friedman W Samowitz M Robertson P Bradley F McCormick R White R Cawthon 1992 Somatic mutations in the neurofibromatosis 1 gene in human tumors Cell 69 275 281 10.1016/0092-8674(92)90408-5
23. O Maertens H Prenen M Debiec-Rychter A Wozniak R Sciot P Pauwels I De Wever JR Vermeesch T de Raedt A De Paepe F Speleman A van Oosterom L Messiaen E Legius 2006 Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients Hum Mol Genet 15 1015 1023 10.1093/hmg/ddl016
24. SN Malik M Brattain PM Ghosh DA Troyer T Prihoda R Bedolla JI Kreisberg 2002 Immunohistochemical demonstration of phospho-Akt in high Gleason grade prostate cancer Clin Cancer Res 8 1168 1171
25. GA Martin D Viskochil G Bollag PC McCabe WJ Crosier H Haubruck L Conroy R Clark P O'Connell RM Cawthon MA Innis F McCormick 1990 The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21 Cell 63 843 849 10.1016/0092-8674(90)90150-D
26. H Maruta AW Burgess 1994 Regulation of the Ras signalling network Bioessays 16 489 496 10.1002/bies.950160708
27. DB Mendel AD Laird X Xin SG Louie JG Christensen G Li RE Schreck TJ Abrams TJ Ngai LB Lee LJ Murray J Carver E Chan KG Moss JO Haznedar J Sukbuntherng RA Blake L Sun C Tang T Miller S Shirazian G McMahon JM Cherrington 2003 In vivo antitumor activity of SU11248, a novel tyrosine kinase inhibitor targeting vascular endothelial growth factor and platelet-derived growth factor receptors: Determination of a pharmacokinetic/pharmacodynamic relationship Clin Cancer Res 9 327 337
28. M Miettinen JF Fetsch LH Sobin J Lasota 2006 Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases Am J Surg Pathol 30 90 96 10.1097/01.pas.0000176433. 81079.bd
29. N Nakamura H Yamamoto T Yao Y Oda K Nishiyama M Imamura T Yamada H Nawata M Tsuneyoshi 2005 Prognostic significance of abnormalities of cell-cycle regulatory proteins in gastrointestinal stromal tumor and relevance of the risk-grading system Hum Pathol 36 828 837 10.1016/j.humpath.2005.03.012
30. T Nishida S Hirota M Taniguchi K Hashimoto K Isozaki H Nakamura Y Kanakura T Tanaka A Takabayashi H Matsuda Y Kitamura 1998 Familial gastrointestinal stromal tumours with germline mutation of the KIT gene Nat Genet 19 323 324 10.1038/1209
31. H Prenen J Cools N Mentens C Folens R Sciot P Schöffski A Van Oosterom P Marynen M Debiec-Rychter 2006 Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate Clin Cancer Res 12 2622 2627 10.1158/1078-0432.CCR-05-2275
32. L Pylkkänen M Sarlomo-Rikala M Wessman E Hämäläinen M Sainio K Husgafvel-Pursiainen O Carpén 2003 Chromosome 22q alterations and expression of the NF2 gene product, merlin, in gastrointestinal stromal tumors Hum Pathol 34 872 879 10.1016/S0046-8177(03)00349-6
33. BP Rubin S Singer C Tsao A Duensing ML Lux R Ruiz MK Hibbard CJ Chen S Xiao DA Tuveson GD Demetri CD Fletcher JA Fletcher 2001 KIT activation is a ubiquitous feature of gastrointestinal stromal tumors Cancer Res 61 8118 8121
34. Y Takazawa S Sakurai Y Sakuma T Ikeda J Yamaguchi Y Hashizume S Yokoyama A Motegi M Fukayama 2005 Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's Disease) Am J Surg Pathol 29 755 763 10.1097/01.pas.0000163359.32734.f9
35. GF Xu P O'Connell D Viskochil R Cawthon M Robertson M Culver D Dunn J Stevens R Gesteland R White R Weiss 1990 The neurofibromatosis type 1 gene encodes a protein related to GAP Cell 62 599 608 10.1016/0092-8674(90)90024-9
36. H Yamamoto Y Oda K Kawaguchi N Nakamura T Takahira S Tamiya T Saito Y Oshiro M Ohta T Yao M Tsuneyoshi 2004 c-kit and PDGFRA mutations in extragastrointestinal stromal tumor (gastrointestinal stromal tumor of the soft tissue) Am J Surg Pathol 28 479 488 10.1097/00000478-200404000-00007
37. RK Yantiss AE Rosenberg L Sarran P Besmer CR Antonescu 2005 Multiple gastrointestinal stromal tumors in type I neurofibromatosis: a pathologic and molecular study Mod Pathol 18 475 484 10.1038/modpathol.3800334