A current perspective on the role for molecular studies in soft tissue tumor pathology

Seminars in Diagnostic Pathology

Volumn 30, Issue 4, 2013, Pages 375-381

  Dei Tos, Angelo P ^a  

^a Treviso General Hospital   (Italy)

Author keywords

Molecular genetics; Sarcoma

Indexed keywords

IMATINIB; PROTEIN TYROSINE KINASE INHIBITOR; TUMOR MARKER;

ARTICLE; CANCER CLASSIFICATION; CANCER PROGNOSIS; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DISEASE MARKER; GENE MUTATION; HUMAN; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; SOFT TISSUE SARCOMA; TREATMENT RESPONSE;

MOLECULAR GENETICS; SARCOMA;

HUMANS; MOLECULAR BIOLOGY; SARCOMA; SOFT TISSUE NEOPLASMS; TUMOR MARKERS, BIOLOGICAL;

EID: 84890216519     PISSN: 07402570     EISSN: 19301111     Source Type: Journal    
DOI: 10.1053/j.semdp.2013.11.003     Document Type: Article

References (49)

1. Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F. WHO classification of tumours of soft tissue and bone. IARC, Lyon, 2013.
2. Mohseny A.B., Hogendoorn P.C. Concise review: mesenchymal tumors: when stem cells go mad. Stem Cells 2011, 29:397-403.
3. Ray-Coquard I., Montesco M.C., Coindre J.M., et al. Sarcoma: concordance between initial diagnosis and centralized expert review in a population-based study within three European regions. Ann Oncol 2012, 23:2442-2449.
4. Gatta G., van der Zwan J.M., Casali P.G., et al. Rare cancers are not so rare: the rare cancer burden in Europe. Eur J Cancer 2011, 47:2493-2511.
5. Fletcher C.D., Gustafson P., Rydholm A., Willén H., Akerman M. Clinicopathologic re-evaluation of 100 malignant fibrous histiocytomas: prognostic relevance of subclassification. J Clin Oncol 2001, 19:3045-3050.
6. Dei Tos A.P. Classification of pleomorphic sarcomas: where are we now?. Histopathology 2006, 48:51-62.
7. Gronchi A., Lo Vullo S., Fiore M., et al. Aggressive surgical policies in a retrospectively reviewed single-institution case series of retroperitoneal soft tissue sarcoma patients. J Clin Oncol 2009, 27:24-30.
8. Dei Tos A.P., Doglioni C., Piccinin S., et al. Coordinated expression and amplification of the MDM2, CDK4, and HMGI-C genes in atypical lipomatous tumours. J Pathol 2000, 190:531-536.
9. Binh M.B., Sastre-Garau X., Guillou L., 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. Am J Surg Pathol 2005, 29:1340-1347.
10. Sirvent N., Coindre J.M., Maire G., et al. Detection of MDM2-CDK4 amplification by fluorescence in situ hybridization in 200 paraffin-embedded tumor samples: utility in diagnosing adipocytic lesions and comparison with immunohistochemistry and real-time PCR. Am J Surg Pathol 2007, 31:1476-1489.
11. Grosso F., Jones R.L., Demetri G.D., et al. Efficacy of trabectedin (ecteinascidin-743) in advanced pretreated myxoid liposarcomas: a retrospective study. Lancet Oncol 2007, 8:595-602.
12. Hasegawa S.L., Davison J.M., Rutten A., Fletcher J.A., Fletcher C.D. Primary cutaneous Ewing's sarcoma: immunophenotypic and molecular cytogenetic evaluation of five cases. Am J Surg Pathol 1998, 22:310-318.
13. Parham D.M., Roloson G.J., Feely M., Green D.M., Bridge J.A., Beckwith J.B. Primary malignant neuroepithelial tumors of the kidney: a clinicopathologic analysis of 146 adult and pediatric cases from the National Wilms' Tumor Study Group Pathology Center. Am J Surg Pathol 2001, l25:133-146.
14. Dedeurwaerdere F., Giannini C., Sciot R., et al. Primary peripheral PNET/Ewing's sarcoma of the dura: a clinicopathologic entity distinct from central PNET. Mod Pathol 2002, 15:673-678.
15. Makhlouf H.R., Ahrens W., Agarwal B., et al. Synovial sarcoma of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 10 cases. Am J Surg Pathol 2008, 32:275-281.
16. Evans H.L. Low-grade fibromyxoid sarcoma: a clinicopathologic study of 33 cases with long-term follow-up. Am J Surg Pathol 2011, 35:1450-1462.
17. Doyle L.A., Möller E., Dal Cin P., Fletcher C.D., Mertens F., Hornick J.L. MUC4 is a highly sensitive and specific marker for low-grade fibromyxoid sarcoma. Am J Surg Pathol 2011, 35:733-741.
18. Guillou L., Benhattar J., Gengler C., et al. Translocation-positive low-grade fibromyxoid sarcoma: clinicopathologic and molecular analysis of a series expanding the morphologic spectrum and suggesting potential relationship to sclerosing epithelioid fibrosarcoma: a study from the French Sarcoma Group. Am J Surg Pathol 2007, 31:1387-1402.
19. Lazar A.J., Tuvin D., Hajibashi S., et al. Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol. 173 2008, 1518-1527.
20. Le Guellec S., Soubeyran I., Rochaix P., et al. CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics. Mod Pathol 2012, 6. [Epub ahead of print].
21. Kawai A., Woodruff J., Healy J.H., Brennan M.F., Antonescu C.R., Ladanyi M. SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma. N Engl J Med 1998, 338:153-160.
22. Ladanyi M., Antonescu C.R., Leung D.H., et al. Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients. Cancer Res 2002, 62:135-140.
23. Guillou L., Benhattar J., Bonichon F., et al. Histologic grade, but not SYT-SSX fusion type, is an important prognostic factor in patients with synovial sarcoma: a multicenter, retrospective analysis. J Clin Oncol 2004, 22:4040-4050.
24. Stegmaier S., Poremba C., Schaefer K.L., et al. Prognostic value of PAX-FKHR fusion status in alveolar rhabdomyosarcoma: a report from the cooperative soft tissue sarcoma study group (CWS). Pediatr Blood Cancer 2011, 57:406-414.
25. Le Deley M.C., Delattre O., Schaefer K.L., et al. Impact of EWS-ETS fusion type on disease progression in Ewing's sarcoma/peripheral primitive neuroectodermal tumor: prospective results from the cooperative Euro-E.W.I.N.G. 99 trial. J Clin Oncol 2010, 1982-1988.
26. Chibon F., Lagarde P., Salas S., et al. Validated prediction of clinical outcome in sarcomas and multiple types of cancer on the basis of a gene expression signature related to genome complexity. Nat Med 2010, 16:781-787.
27. Rubin B.P., Heinrich M.C., Corless C.L. Gastrointestinal stromal tumour. Lancet 2007, 369:1731-1741.
28. Andersson J., Bümming P., Meis-Kindblom J.M., et al. Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis. Gastroenterology 2006, 130:1573-1581.
29. Cassier P.A., Fumagalli E., Rutkowski P., et al. Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. Clin Cancer Res 2012, 18:4458-4464.
30. Casali P.G., Blay J.Y. Gastrointestinal stromal tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 2010, 21(Suppl 5):v98-v102.
31. Debiec-Rychter M., Sciot R., Le Cesne A., et al. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer 2006, 42:1093-1103.
32. Forni C., Minuzzo M., Virdis E., et al. Trabectedin (ET-743) promotes differentiation in myxoid liposarcoma tumors. Mol Cancer Ther 2009, 8:449-457.
33. Butrynski J.E., D'Adamo D.R., Hornick J.L., et al. Crizotinib in ALK-rearranged inflammatory myofibroblastic tumor. N Engl J Med 2010, 363:1727-1733.
34. Singer S., Socci N.D., Ambrosini G., et al. Gene expression profiling of liposarcoma identifies distinct biological types/subtypes and potential therapeutic targets in well-differentiated and dedifferentiated liposarcoma. Cancer Res 2007, 67:6626-6636.
35. Muller C.R., Paulsen E.B., Noordhuis P., Pedeutour F., Saeter G., Myklebost O. Potential for treatment of liposarcomas with the MDM2 antagonist Nutlin-3A. Int J Cancer 2007, 121:199-205.
36. Wagner A.J., Malinowska-Kolodziej I., Morgan J.A., et al. Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol 2010, l28:835-840.
37. McCormack F.X., Inoue Y., Moss J., et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 2011, 364:1595-1606.
38. Rutkowski P., Van Glabbeke M., Rankin C.J., et al. Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol 2010, 28:1772-1779.
39. Antonescu C.R., Yoshida A., Guo T., et al. KDR activating mutations in human angiosarcomas are sensitive to specific kinase inhibitors. Cancer Res 2009, 69:7175-7179.
40. Barretina J., Taylor B.S., Banerji S., et al. Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. Nat Genet 2010, 42:715-721.
41. Romeo S., Dei Tos A.P. Soft tissue tumors associated with EWSR1 translocation. Virchows Arch 2010, 456:219-234.
42. Mano H. ALKoma: a cancer subtype with a shared target. Cancer Discov 2012, 2:495-502.
43. Hostein I., Debiec-Rychter M., Olschwang S., et al. A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours. J Gastroenterol 2011, 46:586-594.
44. Knight J.C., Renwick P.J., Dal Cin P., Van den Berghe H., Fletcher C.D. Translocation t(12;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis. Cancer Res 1995, 55:24-27.
45. Terrier-Lacombe M.J., Guillou L., Maire G., et al. Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic comparative analysis of 28 cases with molecular data-a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol 2003, 27:27-39.
46. Antonescu C.R., Zhang L., Nielsen G.P., Rosenberg A.E., Dal Cin P., Fletcher C.D. Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor. Genes Chromosomes Cancer 2011, 50:757-764.
47. Hornick J.L., Fletcher C.D. Pseudomyogenic hemangioendothelioma: a distinctive, often multicentric tumor with indolent behavior. Am J Surg Pathol 2011, 35:190-201.
48. Trombetta D., Magnusson L., von Steyern F.V., Hornick J.L., Fletcher C.D., Mertens F. Translocation t(7;19)(q22;q13)-a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?. Cancer Genet 2011, 204:211-215.
49. Pierron G., Tirode F., Lucchesi C., et al. A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. Nat Genet 2012, 44:461-466.