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Pathology Research International
Volume 2011 (2011), Article ID 952569, 10 pages
http://dx.doi.org/10.4061/2011/952569
Review Article

Gastrointestinal Mesenchymal Neoplasms other than Gastrointestinal Stromal Tumors: Focusing on Their Molecular Aspects

Cleveland Clinic, 9500 Euclid Avenue, L25, Cleveland, OH 44195, USA

Received 18 October 2010; Accepted 3 January 2011

Academic Editor: Brian Rubin

Copyright © 2011 Thomas P. Plesec. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. S. C. Abraham, “Distinguishing gastrointestinal stromal tumors from their mimics: an update,” Advances in Anatomic Pathology, vol. 14, no. 3, pp. 178–188, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  2. A. R. Latchford, N. J. H. Sturt, K. Neale, P. A. Rogers, and R. K. S. Phillips, “A 10-year review of surgery for desmoid disease associated with familial adenomatous polyposis,” British Journal of Surgery, vol. 93, no. 10, pp. 1258–1264, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  3. J. A. Rodriguez, L. A. Guarda, and J. Rosai, “Mesenteric fibromatosis with involvement of the gastrointestinal tract. A GIST simulator: a study of 25 cases,” American Journal of Clinical Pathology, vol. 121, no. 1, pp. 93–98, 2004. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  4. R. K. Yantiss, I. J. Spiro, C. C. Compton, and A. E. Rosenberg, “Gastrointestinal stromal tumor versus intra-abdominal fibromatosis of the bowel wall: a clinically important differential diagnosis,” American Journal of Surgical Pathology, vol. 24, no. 7, pp. 947–957, 2000. View at Publisher · View at Google Scholar · View at Scopus
  5. T. S. Emory, J. M. Monihan, N. J. Carr, and L. H. Sobin, “Sclerosing mesenteritis, mesenteric panniculitis and mesenteric lipodystrophy: a single entity?” American Journal of Surgical Pathology, vol. 21, no. 4, pp. 392–398, 1997. View at Publisher · View at Google Scholar · View at Scopus
  6. Y. Zen, M. Onodera, D. Inoue et al., “Retroperitoneal fibrosis: a clinicopathologic study with respect to immunoglobulin G4,” American Journal of Surgical Pathology, vol. 33, no. 12, pp. 1833–1839, 2009. View at Publisher · View at Google Scholar · View at Scopus
  7. H. Lamlum, M. Ilyas, A. Rowan et al., “The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's ‘two-hit’ hypothesis,” Nature Medicine, vol. 5, no. 9, pp. 1071–1075, 1999. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  8. R. Caspari, S. Olschwang, W. Friedl et al., “Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444,” Human Molecular Genetics, vol. 4, no. 3, pp. 337–340, 1995. View at Google Scholar · View at Scopus
  9. Y. L. Wallis, D. G. Morton, C. M. McKeown, and F. Macdonald, “Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition,” Journal of Medical Genetics, vol. 36, no. 1, pp. 14–20, 1999. View at Google Scholar · View at Scopus
  10. B. A. Alman, C. Li, M. E. Pajerski, S. Diaz-Cano, and H. J. Wolfe, “Increased β-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors),” American Journal of Pathology, vol. 151, no. 2, pp. 329–334, 1997. View at Google Scholar · View at Scopus
  11. S. Tejpar, F. Nollet, C. Li et al., “Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor),” Oncogene, vol. 18, no. 47, pp. 6615–6620, 1999. View at Google Scholar · View at Scopus
  12. S. Salas, F. Chibon, T. Noguchi et al., “Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors,” Genes Chromosomes and Cancer, vol. 49, no. 6, pp. 560–568, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  13. A. J. F. Lazar, D. Tuvin, S. Hajibashi et al., “Specific mutations in the β-Catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors,” American Journal of Pathology, vol. 173, no. 5, pp. 1518–1527, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  14. J. Dômont, S. Salas, L. Lacroix et al., “High frequency of β-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management,” British Journal of Cancer, vol. 102, no. 6, pp. 1032–1036, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  15. M. C. Heinrich, H. Joensuu, G. D. Demetri et al., “Phase II, open-label study evaluating the activity of imatinib in treating life-threatening malignancies known to be associated with imatinib- sensitivetyrosine kinases,” Clinical Cancer Research, vol. 14, no. 9, pp. 2717–2725, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  16. M. C. Heinrich, G. A. McArthur, G. D. Demetri et al., “Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor),” Journal of Clinical Oncology, vol. 24, no. 7, pp. 1195–1203, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  17. J. K. Greenson, “Gastrointestinal stromal tumors and other mesenchymal lesions of the gut,” Modern Pathology, vol. 16, no. 4, pp. 366–375, 2003. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  18. M. Miettinen, M. Furlong, M. Sarlomo-Rikala, A. Burke, L. H. Sobin, and J. Lasota, “Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the rectum and anus: a clinicopathologic, immunohistochemical, and molecular genetic study of 144 cases,” American Journal of Surgical Pathology, vol. 25, no. 9, pp. 1121–1133, 2001. View at Publisher · View at Google Scholar · View at Scopus
  19. R. Chugh, J. K. Wathen, S. R. Patel et al., “Efficacy of imatinib in aggressive fibromatosis: results of a phase II multicenter Sarcoma Alliance for Research through Collaboration (SARC) trial,” Clinical Cancer Research, vol. 16, no. 19, pp. 4884–4891, 2010. View at Publisher · View at Google Scholar · View at PubMed
  20. V. P. De Camargo, M. L. Keohan, D. R. D'Adamo et al., “Clinical outcomes of systemic therapy for patients with deep fibromatosis (desmoid tumor),” Cancer, vol. 116, no. 9, pp. 2258–2265, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  21. C. M. Coffin, P. A. Humphrey, and L. P. Dehner, “Extrapulmonary inflammatory myofibroblastic tumor: a clinical and pathological survey,” Seminars in Diagnostic Pathology, vol. 15, no. 2, pp. 85–101, 1998. View at Google Scholar · View at Scopus
  22. C. M. Coffin, J. Watterson, J. R. Priest, and L. P. Dehner, “Extrapulmonary inflammatory myofibroblastic tumor (inflammatory pseudotumor): a clinicopathologic and immunohistochemical study of 84 cases,” American Journal of Surgical Pathology, vol. 19, no. 8, pp. 859–872, 1995. View at Google Scholar · View at Scopus
  23. C. M. Coffin, J. L. Hornick, and C. D. M. Fletcher, “Inflammatory myofibroblastic tumor: comparison of clinicopathologic, histologic, and immunohistochemical features including ALK expression in atypical and aggressive cases,” American Journal of Surgical Pathology, vol. 31, no. 4, pp. 509–520, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  24. J. R. Cook, L. P. Dehner, M. H. Collins et al., “Anaplastic lymphoma kinase (ALK) expression in the inflammatory myofibroblastic tumor: a comparative immunohistochemical study,” American Journal of Surgical Pathology, vol. 25, no. 11, pp. 1364–1371, 2001. View at Publisher · View at Google Scholar · View at Scopus
  25. A. Marino-Enriquez, W. L. Wang, A. Roy et al., “Epithelioid inflammatory myofibroblastic sarcoma: an aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK,” American Journal of Surgical Pathology, vol. 35, no. 1, pp. 135–144, 2011. View at Google Scholar
  26. J. E. Butrynski, D. R. D'Adamo, J. L. Hornick et al., “Crizotinib in ALK-rearranged inflammatory myofibroblastic tumor,” New England Journal of Medicine, vol. 363, no. 18, pp. 1727–1733, 2010. View at Publisher · View at Google Scholar · View at PubMed
  27. T. Sasaki, K. Okuda, W. Zheng et al., “The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers,” Cancer Research, vol. 70, no. 24, pp. 10038–10043, 2010. View at Publisher · View at Google Scholar · View at PubMed
  28. C. Fisher, “Soft tissue sarcomas with non-EWS translocations: molecular genetic features and pathologic and clinical correlations,” Virchows Archiv, vol. 456, no. 2, pp. 153–166, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  29. B. P. Rubin, A. J. Lazar, and A. M. Oliviera, “Molecular pathology of bone and soft tissue tumors,” in Cell and Tissue Based Molecular Pathology, R. T. Tubbs and M. H. Stoler, Eds., pp. 325–359, Churchill Livingstone, Philadelphia, Pa, USA, 2009. View at Google Scholar
  30. B. Lawrence, A. Perez-Atayde, M. K. Hibbard et al., “TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors,” American Journal of Pathology, vol. 157, no. 2, pp. 377–384, 2000. View at Google Scholar
  31. J. Cools, I. Wlodarska, R. Somers et al., “Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor,” Genes Chromosomes and Cancer, vol. 34, no. 4, pp. 354–362, 2002. View at Publisher · View at Google Scholar · View at PubMed
  32. M. Debiec-Rychter, P. Marynen, A. Hagemeijer, and P. Pauwels, “ALK-ATIC fusion in urinary bladder inflammatory myofibroblastic tumor,” Genes Chromosomes and Cancer, vol. 38, no. 2, pp. 187–190, 2003. View at Publisher · View at Google Scholar · View at PubMed
  33. I. Panagopoulos, T. Nilsson, H. A. Domanski et al., “Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor,” International Journal of Cancer, vol. 118, no. 5, pp. 1181–1186, 2006. View at Publisher · View at Google Scholar · View at PubMed
  34. Z. Ma, D. A. Hill, M. H. Collins et al., “Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor,” Genes Chromosomes and Cancer, vol. 37, no. 1, pp. 98–105, 2003. View at Publisher · View at Google Scholar · View at PubMed
  35. J. A. Bridge, M. Kanamori, Z. Ma et al., “Fusion of the ALK gene to the clathrin heavy chain gene, CLTC, in inflammatory myofibroblastic tumor,” American Journal of Pathology, vol. 159, no. 2, pp. 411–415, 2001. View at Google Scholar
  36. M. Miettinen, Z. F. Wang, and J. Lasota, “DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases,” American Journal of Surgical Pathology, vol. 33, no. 9, pp. 1401–1408, 2009. View at Publisher · View at Google Scholar · View at PubMed
  37. J. A. Carney and C. A. Stratakis, “Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation,” American Journal of Surgical Pathology, vol. 32, no. 9, pp. 1412–1420, 2008. View at Publisher · View at Google Scholar · View at PubMed
  38. T. de Raedt, J. Cools, M. Debiec-Rychter et al., “Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA,” Gastroenterology, vol. 131, no. 6, pp. 1907–1912, 2006. View at Publisher · View at Google Scholar · View at PubMed
  39. O. Daum, J. Hatlova, V. Mandys et al., “Comparison of morphological, immunohistochemical, and molecular genetic features of inflammatory fibroid polyps (Vanek's tumors),” Virchows Archiv, vol. 456, no. 5, pp. 491–497, 2010. View at Publisher · View at Google Scholar · View at PubMed
  40. H. U. Schildhaus, T. Caviar, E. Binot, R. Büttner, E. Wardelmann, and S. Merkelbach-Bruse, “Inflammatory fibroid polyps harbour mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene,” Journal of Pathology, vol. 216, no. 2, pp. 176–182, 2008. View at Publisher · View at Google Scholar · View at PubMed
  41. J. Lasota, Z. F. Wang, L. H. Sobin, and M. Miettinen, “Gain-of-function PDGFRA mutations, earlier reported in gastrointestinal stromal tumors, are common in small intestinal inflammatory fibroid polyps. A study of 60 cases,” Modern Pathology, vol. 22, no. 8, pp. 1049–1056, 2009. View at Publisher · View at Google Scholar · View at PubMed
  42. J. Andrae, R. Gallini, and C. Betsholtz, “Role of platelet-derived growth factors in physiology and medicine,” Genes and Development, vol. 22, no. 10, pp. 1276–1312, 2008. View at Publisher · View at Google Scholar · View at PubMed
  43. K. Kosemehmetoglu and A. L. Folpe, “Clear cell sarcoma of tendons and aponeuroses, and osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: a review and update,” Journal of Clinical Pathology, vol. 63, no. 5, pp. 416–423, 2010. View at Publisher · View at Google Scholar · View at PubMed
  44. M. Hantschke, T. Mentzel, A. Rütten et al., “Cutaneous clear cell sarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 12 cases emphasizing its distinction from dermal melanoma,” American Journal of Surgical Pathology, vol. 34, no. 2, pp. 216–222, 2010. View at Publisher · View at Google Scholar · View at PubMed
  45. I. Panagopoulos, F. Mertens, M. Dêbiec-Rychter et al., “Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses,” International Journal of Cancer, vol. 99, no. 4, pp. 560–567, 2002. View at Publisher · View at Google Scholar · View at PubMed
  46. C. R. Antonescu, K. Nafa, N. H. Segal, P. Dal Cin, and M. Ladanyi, “EWS-CREB1: a recurrent variant fusion in clear cell sarcoma—association with gastrointestinal location and absence of melanocytic differentiation,” Clinical Cancer Research, vol. 12, no. 18, pp. 5356–5362, 2006. View at Publisher · View at Google Scholar · View at PubMed
  47. M. Hisaoka, T. Ishida, T. T. Kuo et al., “Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases,” American Journal of Surgical Pathology, vol. 32, no. 3, pp. 452–460, 2008. View at Publisher · View at Google Scholar · View at PubMed
  48. W. L. Wang, E. Mayordomo, W. Zhang et al., “Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts),” Modern Pathology, vol. 22, no. 9, pp. 1201–1209, 2009. View at Publisher · View at Google Scholar · View at PubMed
  49. H. R. Makhlouf, W. Ahrens, B. Agarwal et al., “Synovial sarcoma of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 10 cases,” American Journal of Surgical Pathology, vol. 32, no. 2, pp. 275–281, 2008. View at Publisher · View at Google Scholar · View at PubMed
  50. M. R. Tanas and J. R. Goldblum, “Fluorescence in situ hybridization in the diagnosis of soft tissue neoplasms: a review,” Advances in Anatomic Pathology, vol. 16, no. 6, pp. 383–391, 2009. View at Publisher · View at Google Scholar · View at PubMed
  51. A. Agaimy and P. H. Wünsch, “True smooth muscle neoplasms of the gastrointestinal tract: morphological spectrum and classification in a series of 85 cases from a single institute,” Langenbeck's Archives of Surgery, vol. 392, no. 1, pp. 75–81, 2007. View at Publisher · View at Google Scholar · View at PubMed
  52. N. A. C. S. Wong and J. Pawade, “Mast cell-rich leiomyomas should not be mistaken for gastrointestinal stromal tumours,” Histopathology, vol. 51, no. 2, pp. 273–275, 2007. View at Publisher · View at Google Scholar · View at PubMed
  53. M. Miettinen, J. Kopczynski, H. R. Makhlouf et al., “Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the duodenum: a clinicopathologic, immunohistochemical, and molecular genetic study of 167 cases,” American Journal of Surgical Pathology, vol. 27, no. 5, pp. 625–641, 2003. View at Publisher · View at Google Scholar
  54. L. A. Meza-Zepeda, S. H. Kresse, A. H. Barragan-Polania et al., “Array comparative genomic hybridization reveals distinct DNA copy number differences between gastrointestinal stromal tumors and leiomyosarcomas,” Cancer Research, vol. 66, no. 18, pp. 8984–8993, 2006. View at Publisher · View at Google Scholar · View at PubMed
  55. A. Agaimy, B. Märkl, J. Kitz et al., “Peripheral nerve sheath tumors of the gastrointestinal tract: a multicenter study of 58 patients including NF1-associated gastric schwannoma and unusual morphologic variants,” Virchows Archiv, vol. 456, no. 4, pp. 411–422, 2010. View at Publisher · View at Google Scholar · View at PubMed
  56. J. Lasota, B. Wasag, A. Dansonka-Mieszkowska et al., “Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: a study of 20 cases,” Laboratory Investigation, vol. 83, no. 9, pp. 1361–1371, 2003. View at Publisher · View at Google Scholar
  57. M. Miettinen, K. M. Shekitka, and L. H. Sobin, “Schwannomas in the colon and rectum: a clinicopathologic and immunohistochemical study of 20 cases,” American Journal of Surgical Pathology, vol. 25, no. 7, pp. 846–855, 2001. View at Publisher · View at Google Scholar
  58. Y. Y. Hou, Y. S. Tan, J. F. Xu et al., “Schwannoma of the gastrointestinal tract: a clinicopathological, immunohistochemical and ultrastructural study of 33 cases,” Histopathology, vol. 48, no. 5, pp. 536–545, 2006. View at Publisher · View at Google Scholar · View at PubMed
  59. G. M. Groisman and S. Polak-Charcon, “Fibroblastic polyp of the colon and colonic perineurioma: names for a single entity?” American Journal of Surgical Pathology, vol. 32, no. 7, pp. 1088–1094, 2008. View at Publisher · View at Google Scholar · View at PubMed
  60. J. A. Gibson and J. L. Hornick, “Mucosal schwann cell "hamartoma": clinicopathologic study of 26 neural colorectal polyps distinct from neurofibromas and mucosal neuromas,” American Journal of Surgical Pathology, vol. 33, no. 5, pp. 781–787, 2009. View at Publisher · View at Google Scholar · View at PubMed
  61. A. D. Singhi and E. A. Montgomery, “Colorectal granular cell tumor: a clinicopathologic study of 26 cases,” American Journal of Surgical Pathology, vol. 34, no. 8, pp. 1186–1192, 2010. View at Publisher · View at Google Scholar · View at PubMed
  62. C. M. Hobbs, D. M. Burch, and L. H. Sobin, “Elastosis and elastofibromatous change in the gastrointestinal tract: a clinicopathologic study of 13 cases and a review of the literature,” American Journal of Clinical Pathology, vol. 122, no. 2, pp. 232–237, 2004. View at Publisher · View at Google Scholar · View at PubMed
  63. K. M. Shekitka and L. H. Sobin, “Ganglioneuromas of the gastrointestinal tract: relation to von Recklinghausen disease and other multiple tumor syndromes,” American Journal of Surgical Pathology, vol. 18, no. 3, pp. 250–257, 1994. View at Google Scholar
  64. A. Agaimy, R. Stoehr, M. Vieth, and A. Hartmann, “Benign serrated colorectal fibroblastic polyps/intramucosal perineuriomas are true mixed epithelial-stromal polyps (hybrid hyperplastic polyp/mucosal perineurioma) with frequent BRAF mutations,” American Journal of Surgical Pathology, vol. 34, no. 11, pp. 1663–1671, 2010. View at Publisher · View at Google Scholar · View at PubMed
  65. M. A. Murray, V. Kwan, S. J. Williams, and M. J. Bourke, “Detachable nylon loop assisted removal of large clinically significant colonic lipomas,” Gastrointestinal Endoscopy, vol. 61, no. 6, pp. 756–759, 2005. View at Publisher · View at Google Scholar
  66. A. A. Sandberg, “Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: lipoma,” Cancer Genetics and Cytogenetics, vol. 150, no. 2, pp. 93–115, 2004. View at Publisher · View at Google Scholar · View at PubMed
  67. A. A. Sandberg, “Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: liposarcoma,” Cancer Genetics and Cytogenetics, vol. 155, no. 1, pp. 1–24, 2004. View at Publisher · View at Google Scholar · View at PubMed
  68. M. B. N. Binh, X. Sastre-Garau, L. Guillou et al., “MDM2 and CDK4 immunostainings are useful adjuncts in diagnosing well-differentiated and dedifferentiated liposarcoma subtypes: a comparative analysis of 559 soft tissue neoplasms with genetic data,” American Journal of Surgical Pathology, vol. 29, no. 10, pp. 1340–1347, 2005. View at Publisher · View at Google Scholar
  69. J. Weaver, E. Downs-Kelly, J. R. Goldblum et al., “Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms,” Modern Pathology, vol. 21, no. 8, pp. 943–949, 2008. View at Publisher · View at Google Scholar · View at PubMed
  70. M. Miettinen, E. Paal, J. Lasota, and L. H. Sobin, “Gastrointestinal glomus tumors: a clinicopathologic, immunohistochemical, and molecular genetic study of 32 cases,” American Journal of Surgical Pathology, vol. 26, no. 3, pp. 301–311, 2002. View at Publisher · View at Google Scholar