Soft tissue sarcoma: From molecular diagnosis to selection of treatment. Pathological diagnosis of soft tissue sarcoma amid molecular biology and targeted therapies

Annals of Oncology

Volumn 21, Issue SUPPL. 7, 2010, Pages

  Wardelmann, E ^a   Schildhaus, H U ^a   Merkelbach Bruse, S ^a   Hartmann, W ^a   Reichardt, P ^b   Hohenberger, P ^c   Buttner R ^a  

^a UNIVERSITY OF BONN   (Germany)

^b HELIOS Klinikum Bad Saarow   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 4; IMATINIB; MYOD1 PROTEIN; MYOGENIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN KINASE C THETA; PROTEIN MDM2; STEM CELL FACTOR RECEPTOR;

ALVEOLAR SOFT PART SARCOMA; CANCER REGRESSION; CHONDROSARCOMA; CHROMOSOME ABERRATION; CLEAR CELL SARCOMA; CONFERENCE PAPER; DERMATOFIBROSARCOMA PROTUBERANS; DESMOPLASTIC SMALL ROUND CELL TUMOR; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DRUG RESPONSE; ENDOMETRIUM SARCOMA; EWING SARCOMA; FIBROSARCOMA; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROINTESTINAL STROMAL TUMOR; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HEMANGIOPERICYTOMA; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; KARYOTYPE; LEIOMYOSARCOMA; LIPOSARCOMA; MYXOSARCOMA; PLASMA CELL GRANULOMA; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; RHABDOMYOSARCOMA; SOFT TISSUE SARCOMA; SOMATIC MUTATION; SYNOVIAL SARCOMA; TUMOR DIFFERENTIATION;

HUMANS; MOLECULAR BIOLOGY; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR TARGETED THERAPY; PATHOLOGY, MOLECULAR; PATIENT SELECTION; SARCOMA; SOFT TISSUE NEOPLASMS;

EID: 78649336426     PISSN: 09237534     EISSN: 15698041     Source Type: Journal    
DOI: 10.1093/annonc/mdq381     Document Type: Conference Paper

References (43)

1. Fletcher C, Unni K, Mertens F (eds) Pathology and Genetics of Tumours of Soft Tissue and Bone. Lyon: IARC Press 2002.
2. Mertens F, Panagopoulos I, Mandahl N. Genomic characteristics of soft tissue sarcomas. Virchows Arch 2010; 456: 129-139.
3. Delattre O, Zucman J, Melot T et al. The Ewing family of tumors-a subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med 1994; 331: 294-299.
4. Mitelman F, Johansson B, Mertens F. The impact of translocations and gene fusions on cancer causation. Nat Rev Cancer 2007; 7: 233-245.
5. Romeo S, Dei Tos A. Soft tissue tumors associated with EWSR1 translocation. Virchows Arch 2010; 456: 219-234.
6. Shing D, McMullan D, Roberts P et al. FUS/ERG gene fusions in Ewing's tumors. Cancer Res 2003; 63: 4568-4576.
7. Zucman J, Delattre O, Desmaze C et al. EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. Nat Genet 1993; 4: 341-345.
8. Ladanyi M, Gerald W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 1994; 54: 2837-2840.
9. Clark J, Benjamin H, Gill S et al. Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. Oncogene 1996; 12: 229-235.
10. Waters B, Panagopoulos I, Allen E. Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11. Cancer Genet Cytogenet 2000; 121: 109-116.
11. Crozat A, Aman P, Mandahl N, Ron D. Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma. Nature 1993; 363: 640-644.
12. Pedeutour F, Simon M, Minoletti F et al. Translocation, t(17;22)(q22;q13), in dermatofibrosarcoma protuberans: a new tumor-associated chromosome rearrangement. Cytogenet Cell Genet 1996; 72: 171-174.
13. Rutkowski P, Van Glabbeke M, Rankin C et al. Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol 2010; 28: 1772-1779.
14. Hirota S, Isozaki K, Moriyama Y et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998; 279: 577-580.
15. Heinrich MC, Corless CL, Duensing A et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299: 708-710.
16. Joensuu H, Roberts PJ, Sarlomo-Rikala M et al. Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. N Engl J Med 2001; 344: 1052-1056.
17. Demetri GD. Targeting c-kit mutations in solid tumors: scientific rationale and novel therapeutic options. Semin Oncol 2001; 28: 19-26.
18. 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.
19. Wardelmann E, Losen I, Hans V et al. Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer 2003; 106: 887-895.
20. 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.
21. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology 2008; 53: 245-266.
22. Bourdeaut F, Fréneaux P, Thuille B et al. hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol 2007; 211: 323-330.
23. Hornick J, Dal Cin P, Fletcher C. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 2009; 33: 542-550.
24. Mentzel T, Palmedo G, Kuhnen C. Well-differentiated spindle cell liposarcoma ('atypical spindle cell lipomatous tumor') does not belong to the spectrum of atypical lipomatous tumor but has a close relationship to spindle cell lipoma: clinicopathologic, immunohistochemical, and molecular analysis of six cases. Mod Pathol 2010; 23: 729-736.
25. Binh M, 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.
26. Singer S, Socci N, 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.
27. Reed D, Shen Y, Shelat A et al. Identification and characterization of the first small molecule inhibitor of MDMX. J Biol Chem 2010; 285: 10786-10796.
28. Nielsen T, West R. Translating gene expression into clinical care: sarcomas as a paradigm. J Clin Oncol 2010; 28: 1796-1805.
29. Clark J, Rocques P, Crew A et al. Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma. Nat Genet 1994; 7: 502-508.
30. Miettinen M, Wang Z, Lasota J. DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases. Am J Surg Pathol 2009; 33: 1401-1408.
31. Blay P, Astudillo A, Buesa J et al. Protein kinase C theta is highly expressed in gastrointestinal stromal tumors but not in other mesenchymal neoplasias. Clin Cancer Res 2004; 10: 4089-4095.
32. Liegl B, Hornick J, Corless C, Fletcher C. 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.
33. Folpe A. MyoD1 and myogenin expression in human neoplasia: a review and update. Adv Anat Pathol 2002; 9: 198-203.
34. Nonaka D, Chiriboga L, Rubin B. Differential expression of S100 protein subtypes in malignant melanoma, and benign and malignant peripheral nerve sheath tumors. J Cutan Pathol 2008; 35: 1014-1019.
35. Pauls K, Merkelbach-Bruse S, Thal D et al. PDGFRα and c-kit mutated gastrointestinal stromal tumors (GISTs) are characterized by distinctive histological and immunohistochemical features. Histopathology 2005; 46: 166-175.
36. Medeiros F, Corless CL, Duensing A et al. KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications. Am J Surg Pathol 2004; 28: 889-894.
37. Blay J, Reichardt P. Advanced gastrointestinal stromal tumor in Europe: a review of updated treatment recommendations. Expert Rev Anticancer Ther 2009; 9: 831-838.
38. O'Brien K, Seroussi E, Dal Cin P. Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcoma protuberans and giant-cell fibroblastomas. Genes Chromosomes Cancer 1998; 23: 187-193.
39. Hernando E, Charytonowicz E, Dudas M et al. The AKT-mTOR pathway plays a critical role in the development of leiomyosarcomas. Nat Med 2007; 13: 748-753.
40. Friedrichs N, Küchler J, Endl E et al. Insulin-like growth factor-1 receptor acts as a growth regulator in synovial sarcoma. J Pathol 2008; 216: 428-439.
41. Mita M, Sankhala K, Abdel-Karim I et al. Deforolimus (AP23573) a novel mTOR inhibitor in clinical development. Expert Opin Investig Drugs 2008; 17: 1947-1954.
42. Ito T, Ouchida M, Morimoto Y et al. Significant growth suppression of synovial sarcomas by the histone deacetylase inhibitor FK228 in vitro and in vivo. Cancer Lett 2005; 224: 311-319.
43. Hrzenjak A, Moinfar F, Kremser M et al. Histone deacetylase inhibitor vorinostat suppresses the growth of uterine sarcomas in vitro and in vivo. Mol Cancer 2010; 9: 49.