Molecular and clinicopathologic characterization of gastrointestinal stromal tumors (GISTs) of small size

American Journal of Surgical Pathology

Volumn 34, Issue 10, 2010, Pages 1480-1491

  Rossi, Sabrina ^a   Gasparotto, Daniela ^b   Toffolatti, Luisa ^a   Pastrello, Chiara ^b   Gallina, Giovanna ^a   Marzotto, Alessandra ^b   Sartor, Chiara ^a   Barbareschi, Mattia ^c   Cantaloni, Chiara ^c   Messerini, Luca ^d   Bearzi, Italo ^e   Arrigoni, Giannantonio ^f   Mazzoleni, Guido ^g   Fletcher, Jonathan A ^h   Casali, Paolo G ⁱ   Talamini, Renato ^b   Maestro, Roberta ^b   Dei Tos, Angelo Paolo ^a  

^a Treviso General Hospital   (Italy)

^b CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^c Trento General Hospital   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^f Neurological Unit   (Italy)

^g CENTRAL HOSPITAL OF BOLZANO   (Italy)

^h NATIONAL CANCER INSTITUTE   (Italy)

ⁱ BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

microGISTs; novel KIT PDGFRA mutations; small GISTs

Indexed keywords

DNA; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; STEM CELL FACTOR RECEPTOR; TUMOR MARKER;

ADULT; AGED; ARTICLE; CELL PROLIFERATION; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENETICS; HUMAN; INCIDENTAL FINDING; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETROSPECTIVE STUDY;

ADULT; AGED; AGED, 80 AND OVER; CELL PROLIFERATION; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GASTROINTESTINAL STROMAL TUMORS; HUMANS; INCIDENTAL FINDINGS; MALE; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; RETROSPECTIVE STUDIES; TUMOR MARKERS, BIOLOGICAL; YOUNG ADULT;

EID: 77957969688     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e3181ef7431     Document Type: Article

References (58)

1. Abraham SC, Krasinskas AM, Hofstetter WL, et al. "Seedling" mesenchymal tumors (gastrointestinal stromal tumors and leiomyo-mas) are common incidental tumors of the esophagogastric junction. Am J Surg Pathol. 2007;31:1629-1635.
2. Agaimy A, Wunsch PH. Sporadic Cajal cell hyperplasia is common in resection specimens for distal oesophageal carcinoma. A retrospective review of 77 consecutive surgical resection specimens. Virchows Arch. 2006;448:288-294.
3. Agaimy A, Wunsch PH, Hofstaedter F, et al. Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c-KIT mutations. Am J Surg Pathol. 2007;31: 113-120.
4. Agaimy A, Dirnhofer S, Wunsch PH, et al. Multiple sporadic gastrointestinal stromal tumors (GISTs) of the proximal stomach are caused by different somatic KIT mutations suggesting a field effect. Am J Surg Pathol. 2008;32:1553-1559.
5. Agaimy A, Wunsch PH, Dirnhofer S, et al. Microscopic gastrointestinal stromal tumors in esophageal and intestinal surgical resection specimens: a clinicopathologic, Immunohistochemical, and molecular study of 19 lesions. Am J Surg Pathol. 2008;32:867-873.
6. Agaimy A, Markl B, Arnholdt H, et al. Multiple sporadic gastrointestinal stromal tumours arising at different gastrointestinal sites: pattern of involvement of the muscularis propria as a clue to independent primary GISTs. Virchows Arch. 2009;455:101-108.
7. Agaram NP, Wong GC, Guo T, et al. Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer. 2008;47:853-859.
8. Andersson J, Sihto H, Meis-Kindblom JM, et al. NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol. 2005;29:1170-1176.
9. Andersson J, Bumming P, Meis-Kindblom JM, et al. Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis. Gastroenterology. 2006;130:1573-1581.
10. Antonescu CR, Viale A, Sarran L, et al. Gene expression in gastrointestinal stromal tumors is distinguished by KIT genotype and anatomic site. Clin Cancer Res. 2004;10:3282-3290.
11. Armitage P, Berry G, Matthews JNS. In: Statistical Methods in Medical Research. Blackwell Sc. Publication; 2002.
12. 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.
13. Chen LL, Holden JA, Choi H, et al. Evolution from heterozygous to homozygous KIT mutation in gastrointestinal stromal tumor correlates with the mechanism of mitotic nondisjunction and significant tumor progression. Mod Pathol. 2008;21:826-836.
14. Chen Y, Tzeng CC, Liou CP, et al. Biological significance of chromosomal imbalance aberrations in gastrointestinal stromal tumors. J Biomed Sci. 2004;11:65-71.
15. Chompret A, Kannengiesser C, Barrois M, et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology. 2004;126:318-321.
16. Corless CL, McGreevey L, Haley A, et al. KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol. 2002;160:1567-1572.
17. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumors. J Clin Oncol. 2004;22:3813-3825.
18. DeMatteo RP, Gold JS, Saran L, et al. Tumor mitotic rate, size, and location independently predict recurrence after resection of primary gastrointestinal stromal tumor (GIST). Cancer. 2008;112:608-615.
19. Dong C, Jun-Hui C, Xiao-Jun Y, et al. Gastrointestinal stromal tumors of the rectum: clinical, pathologic, Immunohistochemical characteristics and prognostic analysis. Scand J Gastroenterol. 2007; 42:1221-1229.
20. Emile JF, Bachet JB, Tabone-Eglinger S, et al. GIST with homozygous KIT exon 11 mutations. Lab Invest. 2008;88:456-457.
21. Espinosa I, Lee CH, Kim MK, et al. A novel monoclonal antibody against DOG1 is a sensitive and specific marker for gastrointestinal stromal tumors. Am J Surg Pathol. 2008;32:210-218.
22. Fletcher CD, Berman JJ, Corless C, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol. 2002; 33:459-465. (Pubitemid 34747864)
23. Gasparotto D, Rossi S, Bearzi I, et al. Multiple primary sporadic gastrointestinal stromal tumors in the adult: an underestimated entity. Clin Cancer Res. 2008;14:5715-5721.
24. Goettsch WG, Bos SD, Breekveldt-Postma N, et al. Incidence of gastrointestinal stromal tumours (GIST) is underrestimated: results of a nation-wide study. Eur J Cancer. 2005;18:2868-2872.
25. Gold JS, Gonen M, Gutierrez A, et al. Development and validation of a prognostic nomogram for recurrence-free survival after complete surgical resection of localised primary gastrointestinal stromal tumour: a retrospective analysis. Lancet Oncol. 2009;10: 1045-1052.
26. Gunawan B, Schulten HJ, von HA, et al. Site-independent prognostic value of chromosome 9q loss in primary gastrointestinal stromal tumours. J Pathol. 2004;202:421-429.
27. Haller F, Schulten HJ, Armbrust T, et al. Multicentric sporadic gastrointestinal stromal tumors (GISTs) of the stomach with distinct clonal origin: differential diagnosis to familial and syndromal GIST variants and peritoneal metastasis. Am J Surg Pathol. 2007;31: 933-937.
28. Handra-Luca A, Flejou JF, Molas G, et al. Familial multiple gastrointestinal stromal tumours with associated abnormalities of the myenteric plexus layer and skeinoid fibres. Histopathology. 2001; 39:359-363.
29. Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science. 2003;299: 708-710.
30. Heinrich MC, Corless CL, Blanke CD, et al. Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. J Clin Oncol. 2006;24:4764-4774.
31. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations in c-kit in human gastrointestinal stromal tumors. Science. 1998;279: 577-580. (Pubitemid 28067289)
32. Hirota S, Okazaki T, Kitamura Y, et al. 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.
33. Hostein I, Faur N, Primois C, et al. BRAF mutation status in gastrointestinal stromal tumors. Am J Clin Pathol. 2010;133: 141-148.
34. Kawanowa K, Sakuma Y, Sakurai S, et al. High incidence of microscopic gastrointestinal stromal tumors in the stomach. Hum Pathol. 2006;37:1527-1535.
35. Kinoshita K, Hirota S, Isozaki K, et al. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibroma-tosis type 1 patients. J Pathol. 2004;202:80-85.
36. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histo-pathology. 2008;53:245-266.
37. Lasota J, Corless CL, Heinrich MC, et al. Clinicopathologic profile of gastrointestinal stromal tumors (GISTs) with primary KIT exon 13 or exon 17 mutations: a multicenter study on 54 cases. Mod Pathol. 2008;21:476-484.
38. Lasota J, Kuban W, Wardelmann E, et al. KIT codon 558 insertions in gastrointestinal stromal tumors. Analysis of 17 rare KIT mutants. Hum Pathol. 2008;39:1728-1736.
39. Lasota J, nsonka-Mieszkowska A, Sobin LH, et al. A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Invest. 2004;84:874-883.
40. Lasota J, Stachura J, Miettinen M. GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology. Lab Invest. 2006;86:94-100.
41. Lasota J, vel Dobosz AJ, Wasag B, et al. Presence of homozygous KIT exon 11 mutations is strongly associated with malignant clinical behavior in gastrointestinal stromal tumors. Lab Invest. 2007;87: 1029-1041.
42. Liegl B, Hornick JL, Corless CL, et al. Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes. Am J Surg Pathol. 2009;33:437-446.
43. Longley BJ Jr, Metcalfe DD, Tharp M, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci \USA. 1999;96:1609-1614.
44. Martin J, Poveda A, Llombart-Bosch A, et al. Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol. 2005;23:6190-6198.
45. Miettinen M, Lasota J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol. 2006;23:70-83.
46. Miettinen M, Furlong M, Sarlomo-Rikala M, et al. Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the rectum and anus: a clinicopathologic, Immunohistochemical, and molecular genetic study of 144 cases. Am J Surg Pathol. 2001; 25:1121-1133. (Pubitemid 32777711)
47. Miettinen M, Makhlouf H, Sobin LH, et al. Gastrointestinal stromal tumors of the jejunum and ileum: a clinicopathologic, Immunohistochemical, and molecular genetic study of 906 cases before imatinib with long-term follow-up. Am J Surg Pathol. 2006; 30:477-489.
48. Negri T, Pavan GM, Virdis E, et al. T670X KIT mutations in gastrointestinal stromal tumors: making sense of missense. J Natl Cancer Inst. 2009;101:194-204.
49. Nilsson B, Bumming P, Meis-Kindblom JM, et al. Gastrointestinal stromal tumors: the incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate eraFa population-based study in western Sweden. Cancer. 2005;103:821-829.
50. Rink L, Godwin AK. Clinical and molecular characteristics of gastrointestinal stromal tumors in the pediatric and young adult population. Curr Oncol Rep. 2009;11:314-321.
51. Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet. 2007;369:1731-1741.
52. Singer S, Rubin BP, Lux ML, et al. Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors. J Clin Oncol. 2002;20:3898-3905.
53. Steigen SE, Eide TJ, Wasag B, et al. Mutations in gastrointestinal stromal tumorsFa population-based study from Northern Norway. APMIS. 2007;115:289-298.
54. Takazawa Y, Sakurai S, Sakuma Y, et al. Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease). Am J Surg Pathol. 2005;29:755-763.
55. Tang X, Boxer M, Drummond A, et al. A germline mutation in KIT in familial diffuse cutaneous mastocytosis. J Med Genet. 2004; 41:e88.
56. Vu HA, Xinh PT, Kikushima M, et al. A recurrent duodenal gastrointestinal stromal tumor with a frameshift mutation resulting in a stop codon in KIT exon 13. Genes Chromosomes Cancer. 2005; 42:179-183.
57. Wozniak A, Sciot R, Guillou L, et al. Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status. Genes Chromosomes Cancer. 2007;46: 261-276.
58. Zhang LY, Smith ML, Schultheis B, et al. A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. Leuk Res. 2006;30: 373-378.