Skip to main content
Log in

Fibromatoses desmoïdes: étude immunohistochimique de 14 cas sur tissue microarray (TMA)

Desmoid fibromatosis: immunohistochemical analysis of 14 cases on tissue microarray (TMA)

  • Article Original
  • Published:
Bio tribune magazine

Résumé

Introduction

Les fibromatoses desmoïdes sont des tumeurs bénignes rares, localement agressives, ayant tendance à récidiver mais ne disséminant pas à distance. Le diagnostic histologique peut être difficile. Un complément immunohistochimique est alors utile.

Notre objectif a été d’étudier le profil immunohistochimique de ces tumeurs pour évaluer l’aide diagnostique que peut apporter cette technique.

Matériels et méthodes

14 cas de fibromatoses extra-abdominales sporadiques ont été étudiés. Ces cas ont été re grou - pés sur 1 bloc de tissue-microarray, et des immunomarquages utilisant les marqueurs β caténine, APC (antigène de la polypose adénomateuse colique), WT1, CD117, récepteurs oestrogéniques et progestéroniques ont été réalisés.

Résultats

Une expression nucléaire de la β-caténine est retrouvée dans tous les cas testés (100%). La protéine APC est exprimée dans 11 cas sur 14 (78,6 %). Par contre, les récepteurs oestrogéniques et progestéroniques, le CD117 et le WT1 sont négatifs.

Nos résultats confirment le rôle de la voie de signalisation Wnt/β-catenine/APC, dont la dérégulation joue un rôle crucial dans le développement des tumeurs desmoïdes.

Abstract

Background/aim

Desmoid fibromatosis are rare, benign but locally aggressive tumors, characterized by an infiltrative growth and a tendency towards local recurrence, but an inability to metastasise. The morphological diagnosis may be difficult, requiring immunohistochemistry.

The aim of our study is to determine the im munohistochemical phenotypes of these tumours to evaluate if they are helpful and to define a diagnostic strategy.

Methods

Immunohistochemistry was used to examine the expression of β-catenin, APC protein, in archival material derived from fourteen cases of extraabdominal desmoid tumors.

Desmoids specimens were assembled into a clinical data-linked tissue micro — array. Nuclear β-catenin expression was observed in 100% of the specimens. Positive cytoplasmic staining for APC protein was found in 11 of 14 (78,6%). But all samples were negative for oestrogen and progesterone receptors, c-KIT and WT1.

Results

Our results regarding β-catenin and APC confirm the previous findings that those proteins play a crucial role in the pathogenesis of sporadic aggressive fibromatosis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Références

  1. Fletcher CDM, Unni KK, Mertens F and al. World Health Organization. Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue

  2. Couture J, Mitri A, Lagace R, Smits R, Berk T, Bouchard HL, Fodde R, Alman B, Bapat B. A germline mutation at the extreme 3′; end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin Genet 2000 Mar; 57(3): 205–212.

    Article  PubMed  CAS  Google Scholar 

  3. 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 Aug; 151(2): 329–334.

    PubMed  CAS  Google Scholar 

  4. Kikushi A. Regulation of beta-catenin signaling in the Wnt pathway. Biochem Biophys Res Commun 2000 Feb 16; 268(2): 243–248.

    Article  CAS  Google Scholar 

  5. Giarola M, Wells D, Mondini P, Pilotti S, Sala P, Azzarelli A, Bertario L, Pierotti MA, Delhanty JD, Radice P. Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. Br J Cancer 1998 Sep; 78(5): 582–587.

    Article  PubMed  CAS  Google Scholar 

  6. Sotobori T, Ueda T, Oji Y, Naka N, Araki N, Myoui A, Sugiyama H, Yoshikawa H. Prognostic significance of Wilms tumor gene (WT1) mRNA expression in soft tissue sarcoma. Cancer 2006 May 15; 106(10): 2233–2240.

    Article  PubMed  CAS  Google Scholar 

  7. Nik SA, Hohenstein P et al. Upregulation of Wilms’ tumor gene 1 (WT1) in desmoid tumors. Int J Cancer 2005 Mar 20; 114(2): 202–208.

    Article  CAS  Google Scholar 

  8. Mace J, Sybil BJ, Sondak V, et al. Response of extraabdominal desmoid tumors to therapy with imatinib mesylate. Cancer 2002; 95(11): 2373–2379.

    Article  PubMed  CAS  Google Scholar 

  9. Stoeckle E, Coindre JM, Longy M, Binh MB, Kantor G, Kind M, de Lara CT, Avril A, Bonichon F, Bui BN. A critical analysis of treatment strategies in desmoid tumours: a review of a series of 106 cases. Eur J Surg Oncol 2009 Feb; 35(2): 129–134. Epub 2008 Aug 29.

    PubMed  CAS  Google Scholar 

  10. Saito T, Oda Y, Kawaguchi K, Tanaka K, Matsuda S, Tamiya S, Iwamoto Y, Tsuneyoshi M. Possible association between higher beta-catenin mRNA expression and mutated beta-catenin in sporadic desmoid tumors: real-time semiquantitative assay by TaqMan polymerase chain reaction. Lab Invest 2002 Jan; 82(1): 97–103.

    PubMed  CAS  Google Scholar 

  11. Miyoshi Y, Iwao K, Nawa G, Yoshikawa H, Ochi T, Nakamura Y. Frequent mutations in the beta-catenin gene in desmoid tumors from patients without familial adenomatous polyposis. Oncol Res 1998; 10(11–12): 591–594.

    PubMed  CAS  Google Scholar 

  12. Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, Ricci F, Weber K, Furlong MA, Fisher C, Montgomery E. Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am J Surg Pathol 2005 May; 29(5): 653–659.

    Article  PubMed  Google Scholar 

  13. Carlson JW, Fletcher CD. Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology 20018, 7 Oct; 51(4): 509–514. Epub 2007 Aug 17.

  14. Ng TL, Gown AM, Barry TS, Cheang MC, Chan AK, Turbin DA, Hsu FD, West RB, Nielsen TO. Nuclear beta-catenin in mesenchymal tumors. Mod Pathol 2005 Jan; 18(1): 68–74.

    Article  PubMed  CAS  Google Scholar 

  15. Shitoh K, Konishi F, Iijima T, Ohdaira T, Sakai K, Kanazawa K, Miyaki M. A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene. J Clin Pathol 1999 Sep; 52(9): 695–696.

    Article  PubMed  CAS  Google Scholar 

  16. Amary MF, Pauwels P, Meulemans E, Roemen GM, Islam L, Idowu B, Bousdras K, Diss TC, O’Donnell P, Flanagan AM. Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutationspecific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. Am J Surg Pathol 2007 Sep; 31(9): 1299–1309.

    Article  PubMed  Google Scholar 

  17. Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P, Van Cutsem E, Bapat B, van Roy F, Cassiman JJ, Alman BA. Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene 1999 Nov 11; 18(47): 6615–6620.

    Article  PubMed  CAS  Google Scholar 

  18. Abraham SC, Reynolds C, Lee JH, Montgomery EA, Baisden BL, Krasinskas AM, Wu TT. Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway. Hum Pathol 2002 Jan; 33(1): 39–46. Erratum in: Hum Pathol 2002 Mar; 33(3): 379.

    Article  PubMed  CAS  Google Scholar 

  19. Ferenc T, Wroński JW, Kopczyński J, Kulig A, Sidor M, Stalińska L, Dziki A, Sygut J. Analysis of APC, alpha-, betacatenins, and N-cadherin protein expression in aggressive fibromatosis (desmoid tumor). Pathol Res Pract 2009; 205(5): 311–324. Epub 2009 Jan 4.

    Article  PubMed  CAS  Google Scholar 

  20. Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo-Aranda E, Warneke CL, Lopez-Terrada D, Pollock RE, Lev D. Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol 2008 Nov; 173(5): 1518–1527. Epub 2008 Oct 2.

    Article  PubMed  CAS  Google Scholar 

  21. Li C, Bapat B, Alman BA. Adenomatous polyposis coli gene mutation alters proliferation through its beta-cateninregulatory function in aggressive fibromatosis (desmoid tumor). Am J Pathol 1998 Sep; 153(3): 709–714.

    PubMed  CAS  Google Scholar 

  22. Gebert C, Hardes J, Kersting C, August C, Supper H, Winkelmann W, Buerger H, Gosheger G. Expression of beta-catenin and p53 are prognostic factors in deep aggressive fibromatosis. Histopathology 2007 Mar; 50(4): 491–497.

    Article  PubMed  CAS  Google Scholar 

  23. Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Tanaka K, Takahashi H, Muraoka M, Mori T, Konishi F, Iwama T. Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res 1993 Nov 1; 53(21): 5079–5082.

    PubMed  CAS  Google Scholar 

  24. Leithner A, Gapp M, Radl R, Pascher A, Krippl P, Leithner K, Windhager R, Beham A. Immunohistochemical analysis of desmoid tumours. J Clin Pathol 2005 Nov; 58(11): 1152–1156.

    Article  PubMed  CAS  Google Scholar 

  25. Heinrich MC, McArthur GA, Demetri GD, Joensuu H, Bono P, Herrmann R, Hirte H, Cresta S, Koslin DB, Corless CL, Dirnhofer S, van Oosterom AT, Nikolova Z, Dimitrijevic S, Fletcher JA. Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). J Clin Oncol 2006 Mar 1; 24(7): 1195–1203.

    Article  PubMed  CAS  Google Scholar 

  26. Kurtz JE, Asmane I, Voegeli AC, Neuville A, Dufresne A, Litique V, Chevreau C, Bergerat JP. A V530I Mutation in c-KIT Exon 10 Is Associated to Imatinib Response in Extraabdominal Aggressive Fibromatosis. Sarcoma 2010; 2010: 458156. Epub 2010 Mar 17.

    Article  PubMed  CAS  Google Scholar 

  27. Kouzmenko AP, Takeyama K, Ito S, Furutani T, Sawatsubashi S, Maki A, Suzuki E, Kawasaki Y, Akiyama T, Tabata T, Kato S. Wnt/beta-catenin and estrogen signaling converge in vivo. J Biol Chem 2004 Sep 24; 279(39): 40255–40258. Epub 2004 Aug 9.

    Article  PubMed  CAS  Google Scholar 

  28. Deyrup AT, Tretiakova M, Montag AG. Estrogen receptor-beta expression in extraabdominal fibromatoses: an analysis of 40 cases. Cancer 2006 Jan 1; 106(1): 208–213.

    Article  PubMed  CAS  Google Scholar 

  29. Ishizuka M, Hatori M, Dohi O, Suzuki T, Miki Y, Tazawa C, Sasano H, Kokubun S. Expression profiles of sex steroid receptors in desmoid tumors. Tohoku J Exp Med 2006 Nov; 210(3): 189–198.

    Article  PubMed  CAS  Google Scholar 

  30. Santos GA, Cunha IW, Rocha RM, Mello CA, Guimarães GC, Fregnani JH, Lopes A. Evaluation of estrogen receptor alpha, estrogen receptor beta, progesterone receptor, and cKIT expression in desmoids tumors and their role in determining treatment options. Biosci Trends 2010 Feb; 4(1): 25–30.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to M. Amrani.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kadiri, H., Memeo, L., Belabbas, M. et al. Fibromatoses desmoïdes: étude immunohistochimique de 14 cas sur tissue microarray (TMA). Bio trib. mag. 36, 36–43 (2010). https://doi.org/10.1007/s11834-010-0020-x

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11834-010-0020-x

Mots clés

Keywords

Navigation