Diagnostic Histopathology
Volume 14, Issue 11 , Pages 546-551 , November 2008

Desmoid-type fibromatosis: from morphology to molecular genetics

References 

  1. Ramsey RH. The pathology, diagnosis, and treatment of extra-abdominal desmoid tumors. J Bone Joint Surg Am. 1955;37-A:1012–1018
  2. Enzinger FM, Shiraki M. Musculo-aponeurotic fibromatosis of the shoulder girdle (extra-abdominal desmoid). Analysis of thirty cases followed up for ten or more years. Cancer. 1967;20:1131–1140
  3. Gronchi A, Casali PG, Mariani L, et al. Quality of surgery and outcome in extra-abdominal aggressive fibromatosis: a series of patients surgically treated at a single institution. J Clin Oncol. 2003;21:1390–1397
  4. Gardner EJ. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet. 1951;3:167–176
  5. Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, et al. Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am J Surg Pathol. 2005;29:653–659
  6. Carlson JW, Fletcher CDM. Immunohistochemistry for β-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology. 2007;51:509–514
  7. Evans HL. Low-grade fibromyxoid sarcoma. A report of 12 cases. Am J Surg Pathol. 1993;17:595–600
  8. Panagopoulos I, Storlazzi CT, Fletcher CDM, et al. The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. Genes Chromosomes Cancer. 2004;40:218–228
  9. Matsuyama A, Hisaoka M, Shimajiri S, et al. Molecular detection of FUS-CREB3L2 fusion transcripts in low-grade fibromyxoid sarcoma using formalin-fixed, paraffin-embedded tissue specimens. Am J Surg Pathol. 2006;30:1077–1084
  10. Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet. 2007;369:1731–1741
  11. Gleason BC, Hornick JL. Inflammatory myofibroblastic tumours: where are we now?. J Clin Pathol. 2008;61:428–437
  12. Giarola M, Wells D, Mondini P, et al. Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. Br J Cancer. 1998;78:582–587
  13. Tejpar S, Nollet F, Li C, et al. Predominance of β-catenin mutations and β-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene. 1999;18:6615–6620
  14. Alman BA, Li C, Pajerski ME, Diaz-Cano S, Wolfe HJ. Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997;151:329–334
  15. Clevers H. Wnt/beta-catenin signaling in development and disease. Cell. 2006;127:469–480
  16. Amary MFC, Pauwels P, Meulemans ELS, et al. Detection of β-catenin mutations in paraffin embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. Am J Surg Pathol. 2007;31:1299–1309
  17. Miyoshi Y, Iwao K, Nawa G, Yoshikawa H, Ochi T, Nakamura Y. Frequent mutations in the β-catenin gene in desmoid tumors from patients without familial adenomatous polyposis. Oncol Res. 1998;10:591–594
  18. Abraham SC, Reynolds C, Lee JH, et al. Fibromatosis of the breast and mutations involving the APC/ß-catenin pathway. Hum Pathol. 2002;33:39–46
  19. Mirabelli-Primdahl L, Gryfe R, Kim H, et al. β-Catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res. 1999;59:3346–3351
  20. Morin PJ, Sparks AB, Korinek V, et al. Activation of β-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science. 1997;275:1787–1790
  21. Chan EF, Gat U, McNiff JM, Fuchs E. A common human skin tumour is caused by activating mutations in β-catenin. Nat Genet. 1999;21:410–413
  22. Tejpar S, Li C, Yu C, et al. Tcf-3 expression and βcatenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour). Br J Cancer. 2001;85:98–101
  23. Clark SK, Neale KF, Landgrebe JC, Phillips RK. Desmoid tumours complicating familial adenomatous polyposis. Br J Surg. 1999;86:1185–1189
  24. Gurbuz AK, Giardiello FM, Petersen GM, et al. Desmoid tumours in familial adenomatous polyposis. Gut. 1994;35:377–381
  25. Sturt NJ, Gallagher MC, Bassett P, et al. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut. 2004;53:1832–1836
  26. Palmirotta R, Curia MC, Esposito DL, et al. Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors. Hum Mol Genet. 1995;4:1979–1981
  27. Latchford A, Volikos E, Johnson V, et al. APC mutations in FAP-associated desmoid tumours are non-random but not ‘just right’. Hum Mol Genet. 2007;16:78–82
  28. Mace J, Sybil Biermann J, Sondak V, et al. Response of extraabdominal desmoid tumors to therapy with imatinib mesylate. Cancer. 2002;95:2373–2379
  29. Heinrich MC, McArthur GA, Demetri GD, et al. Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). J Clin Oncol. 2006;24:1195–1203
  30. Alman BA, Naber SP, Terek RM, Jiranek WA, Goldberg MJ, Wolfe HJ. Platelet-derived growth factor in fibrous musculoskeletal disorders: a study of pathologic tissue sections and in vitro primary cell cultures. J Orthop Res. 1995;13:67–77
  31. Signoroni S, Frattini M, Negri T, et al. Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. Clin Cancer Res. 2007;13:5034–5040
  32. Liegl B, Leithner A, Bauernhofer T, et al. Immunohistochemical and mutational analysis of PDGF and PDGFR in desmoid tumours: is there a role for tyrosine kinase inhibitors in c-kit negative desmoid tumours?. Histopathology. 2006;49:576–581
  33. Poon R, Smits R, Li C, et al. Cyclooxygenase-two (COX-2) modulates proliferation in aggressive fibromatosis (desmoid tumor). Oncogene. 2001;20:451–460
  34. Hsi LC, Angerman-Stewart J, Eling TE. Introduction of full-length APC modulates cyclooxygenase-2 expression in HT-29 human colorectal carcinoma cells at the translational level. Carcinogenesis. 1999;20:2045–2049
  35. Hansmann A, Adolph C, Vogel T, Unger A, Moeslein G. High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors. Cancer. 2004;100:612–620
  36. Picariello L, Tonelli F, Brandi ML. Selective oestrogen receptor modulators in desmoid tumours. Expert Opin Investig Drugs. 2004;13:1457–1468
  37. Deyrup AT, Tretikova M, Montag AG. Estrogen receptor-β expression in extraabdominal fibromatoses: an analysis of 40 cases. Cancer. 2006;106:208–213
  38. Leithner A, Gapp M, Radl R, et al. Immunohistochemical analysis of desmoid tumours. J Clin Pathol. 2005;58:1152–1156
  39. Ishizuka M, Hatori M, Dohi O, et al. Expression profiles of sex steroid receptors in desmoid tumors. Tohoku J Exp Med. 2006;210:189–198
  40. Kotiligam D, Lazar AJ, Pollock RE, Lev D. Desmoid tumor: a disease opportune for molecular insights. Histol Histopathol. 2008;23:117–126

PII: S1756-2317(08)00152-7

doi: 10.1016/j.mpdhp.2008.08.004

Diagnostic Histopathology
Volume 14, Issue 11 , Pages 546-551 , November 2008

Article Tools

* Image Usage & Resolution