NF2 expression levels of gastrointestinal stromal tumors: A quantitative real-time PCR study

Tumori

Volumn 94, Issue 4, 2008, Pages 551-555

  Taddei, Antonio ^a   Castiglione, Francesca ^a   Degl'Innocenti, Duccio Rossi ^a   Buccoliero, Anna Maria ^a   Garbini, Francesca ^a   Tommasi, Cinzia ^a   Freschi, Giancarlo ^a   Bechi, Paolo ^a   Messerini, Luca ^a   Taddei, Gian Luigi ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Gastrointestinal stromal tumors; Neurofibromatosis 2; Quantitative real time polymerase chain reaction

Indexed keywords

ERYTHROCYTE BAND 4.1 PROTEIN; MERLIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; NF2 GENE; PHENOTYPE; PROTEIN FUNCTION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 54749087897     PISSN: 03008916     EISSN: None     Source Type: Journal    
DOI: 10.1177/030089160809400417     Document Type: Article

References (45)

1. Miettinen M, Lasota J: Gastrointestinal stromal tumors (GISTs): definition, occurrence, pathology, differential diagnosis and molecular genetics. Pol J Pathol, 54: 3-24, 2003.
2. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y: Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science, 279: 577-580, 1998.
3. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD, Fletcher JA: PDGFRA activating mutations in gastrointestinal stromal tumors. Science, 299: 708-710, 2003.
4. Nishida T, Hirota S, Taniguchi M, Hashimoto K, Isozaki K, Nakamura H, Kanakura Y, Tanaka T, Takabayashi A, Matsuda H, Kitamura Y: Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet, 19: 323-324, 1998.
5. Chompret A, Kannengiesser C, Barrois M, Terrier P, Dahan R Tursz T, Lenoir GM, Bressac-De Paillerets B: PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology, 126: 318-321, 2004.
6. Sommer G, Agosti V, Ehlers I, Rossi F, Corbacioglu S, Farkas J, Moore M, Manova K, Antonescu CR, Besmer P: Gastrointestinal stromal tumors in a mouse model by targeted mutation of the KIT receptor tyrosine kinase. Proc Natl Acad Sci USA, 100: 6706-6711, 2003.
7. Dal Cin P, Boghosian J, Sandberg AA: Cytogenetic findings in leiomyosarcoma of the small bowel. Cancer Genet Cytogenet, 30: 285-288, 1988.
8. Bardi G, Johansson B, Pandis N, Heim S, Mandahl N, Bak-Jensen E, Frederiksen H, Andren-Sandberg A, Mitelman F: Recurrent chromosome aberrations in abdominal smooth muscle tumors. Cancer Genet Cytogenet, 62: 43-46, 1992.
9. el-Rifai W, Sarlomo-Rikala M, Miettinen M, Knuutila S, Andersson LC: DNA copy number losses in chromosome 14: An early change in gastrointestinal stromal tumors. Cancer Res, 56: 3230-3233, 1996.
10. Breiner JA, Meis-Kindblom J, Kindblom LG, McComb E, Liu J, Nelson M, Bridge JA: Loss of 14q and 22q in gastrointestinal stromal tumors (pacemaker cell tumors). Cancer Genet Cytogenet, 120: 111-116, 2000.
11. Fukasawa T, Chong JM, Sakurai S, Koshiishi N, Ikeno R, Tanaka A, Matsumoto Y, Hayashi Y, Koike M, Fukayama M: 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, 2000.
12. Kim NG, Kim JJ, Ahn JY, Seong CM, Noh SH, Kim CB, Min JS, Kim H: Putative chromosomal deletions on 9p, 9q and 22q occur preferentially in malignant gastrointestinal stromal tumors. Int J Cancer, 85: 633-638, 2000.
13. Debiec-Rychter M, Lasota J, Sarlomo-Rikala M, Kordek R, Miettinen M: Chromosomal aberrations in malignant gastrointestinal stromal tumors: correlation with c-KIT gene mutation. Cancer Genet Cytogenet, 128: 24-30, 2001.
14. Gunawan B, Bergmann F, Hoer J, Langer C, Schumpelick V, Becker H, Fuzesi L: Biological and clinical significance of cytogenetic abnormalities in low-risk and high-risk gastrointestinal stromal tumors. Human Pathol, 33: 316-321, 2002.
15. Pylkkanen L, Sarlomo-Rikala M, Wessman M, Hamalainen E, Sainio M, Husgafvel-Pursiainen K, Carpen O: Chromosome 22q alterations and expression of the NF2 gene product, merlin, in gastrointestinal stromal tumors. Human Pathol, 34: 872-879, 2003.
16. Debiec-Rychter M, Pauwels P, Lasota J, Franke S, De Vos R, De Wever I, Hagemeijer A, Sciot R: Complex genetic alterations in gastrointestinal stromal tumors with autonomic nerve differentiation (GANTs). Modern Pathol, 15: 692-698, 2002.
17. Miettinen M, El-Rifai W, Sobin L, Lasota J: Evaluation of malignancy and prognosis of gastrointestinal stromal tumors: a review. Hum Pathol, 33: 478-483, 2002.
18. Miettinen M, Kopczynski J, Makhlouf HR, Sarlomo-Rikala M, Gyorffy H, Burke A, Sobin LH, Lasota J: Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in duodenum. Am J Surg Pathol, 27: 625-641, 2003.
19. Lasota J, Jasinski M, Sarlomo-Rikala M, Miettinen M: C-kit mutations occur preferentially in malignant vs. benign gastrointestinal stromal tumors and do not occur in leiomyomas and leiomyosarcomas. Am J Pathol, 154: 53-60, 1999.
20. Canzian F, Salovaara R, Hemminki A, Kristo P, Chadwick RB, Aaltonen LA, de la Chapelle A: Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res, 56: 3331-3337, 1996.
21. Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2 (-Delta Delta C(T)). Methods, 25: 402-408, 2001.
22. Miettinen M, Lasota J: Gastrointestinal stromal tumors definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch, 438: 1-12, 2001.
23. Chan JK: Mesenchymal tumors of the gastrointestinal tract: a paradise for acronyms (STUMR GIST, GANT, and now GIPACT), implication of c-kit in genesis, and yet another of the many emerging roles of the interstitial cell of Cajal in the pathogenesis of gastrointestinal diseases? Adv Anat Pathol, 6: 19-40, 2001.
24. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y: Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science, 279: 577-580, 1998.
25. Nishida T, Hirota S, Taniguchi M, Hashimoto K, Isozaki K, Nakamura H, Kanakura Y, Tanaka T, Takabayashi A, Matsuda H, Kitamura Y: Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet, 19: 323-324, 1998.
26. Nakahara M, Isozaki K, Hirota S, Miyagawal, Hase-Sawada N, Taniguchi M, Nishida T, Kanayama S, Kitamura Y, Shinomura Y, Matsuzawa Y: A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. Gastroenterology, 115: 1090-1095, 1998.
27. Ernst SI, Hubbs AE, Przygodzki RM, Emory TS, Sobin LH, O'Leary TI: KIT mutation portends poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab Invest, 78: 1633-1636, 1998.
28. 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 or leiomyosarcomas. Am J Pathol, 154: 53-60, 1999.
29. Moskaluk CA, 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, 18: 1897-1902, 1999.
30. Breiner JA, Meis-Kindblom J, Kindblom LG, McComb E, Liu J, Nelson M, Bridge JA: Loss of 14q and 22q in gastrointestinal stromal tumors (pacemaker cell tumors). Cancer Genet Cytogenet, 120: 111-116, 2000.
31. El-Rifai W, Sarlomo-Rikala M, Andersson LC, Knuutila S, Miettinen M: DNA sequence copy number changes in gastrointestinal stromal tumors: tumor progression and prognostic significance. Cancer Res, 60: 3899-3903, 2000.
32. El-Rifai W, Sarlomo-Rikala M, Andersson LC, Miettinen M, Knuutila S: High-resolution deletion mapping of chromosome 14 in stromal tumors of the gastrointestinal tract suggests two distinct tumor suppressor loci. Genes Chromosomes Cancer, 27: 387-391, 2000.
33. Fukasawa T, Chong JM, Sakurai S, Koshiishi N, Ikeno R, Tanaka A, Matsumoto Y, Hayashi Y, Koike M, Fukayama M: Allelic loss of 14q and 22q, NF2 mutation, and genetic instability occur independendy of c-kit mutation in gastrointestinal stromal tumor. Jpn J Cancer Res, 91: 1241-1249, 2000.
34. Kim NG, Kim IJ, Ahn JY, Seong CM, Noh SH, Kim CB, Min JS, Kim H: Putative chromosomal deletions on 9P, 9Q and 22Q occur preferentially in malignant gastrointestinal stromal tumors. Int J Cancer, 85: 633-638, 2000.
35. Debiec-Rychter M, Lasota J, Sarlomo-Rikala M, Kordek R, Miettinen M: Chromosomal aberrations in malignant gastrointestinal stromal tumors: correlation with c-KIT gene mutation. Cancer Genet Cytogenet, 128: 24-30, 2000.
36. Taniguchi M, Nishida T, Hirota S, Isozaki K, Ito T, Nomura T, Matsuda H, Kitamura Y: Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res, 59: 4297-4300, 1999.
37. Sozzi G, Carney D: Molecular biology of lung cancer. Curr Opin Pulm Med, 4: 207-212, 1998.
38. Mao L, Lee JS, Kurie JM, Fan YH, Lippman SM, Lee JJ, Ro JY, Broxson A, Yu R, Morice RC, Kemp BL, Khuri FR, Walsh GL, Hittelman WN, and Hong WK: Clonal genetic alterations in the lungs of current and former smokers. J Natl Cancer Inst, 89: 857-862, 1997.
39. Marchetti A, Pellegrini S, Bertacca G, Buttitta F, Gaeta P, Carnicelli V, Nardini V, Griseri R Chella A, Angeletti CA, Bevilacqua G: FHIT and p53 gene abnormalities in bronchioloalveolar carcinomas. Correlations with clinicopathological data and K-ras mutations. J Pathol, 184: 240-246, 1998.
40. Miozzo M, Sozzi G, Musso K, Pilotti S, Incarbone M, Pastorino U, Pierotti MA: Microsatellite alterations in bronchial and sputum specimens of lung cancer patients. Cancer Res, 56: 2285-2288, 1996.
41. Anker P, Mulcahy H, Chen XQ, Stroun M: Detection of circulating tumour DNA in the blood (plasma/serum) of cancer patients. Cancer Metastasis Rev, 18: 65-73, 1999.
42. Chen XQ, Stroun M, Magnenat JL, Nicod LR Kurt AM, Lyautey J, Lederrey C, Anker P: Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat Med, 2: 1033-1035, 1996.
43. Cuda G, Gallelli A, Nisticò A, Tassone P, Barbieri V, Tagliaferri PS, Costanzo FS, Tranfa CM, Venuta S: Detection of microsatellite instability and loss of heterozygosity in serum DNA of small and non-small cell lung cancer patients: a tool for early diagnosis? Lung Cancer, 30: 211-214, 2000.
44. Handel-Fernandez ME, Vincek V: Early cancer detection by microsatellite marker analysis. Med Hypotheses, 53: 114-117, 1999.
45. Sanchez-Cespedes M, Monzo M, Rosell R, Pifarre A, Calvo R, Lopez-Cabrerizo MP, Astudillo J: Detection of chromosome 3p alterations in serum DNA of non-small-cell lung cancer patients. Ann Oncol, 9: 113-116, 1998.