Molecular pathology of sarcomas: Concepts and clinical implications

Virchows Archiv

Volumn 456, Issue 2, 2010, Pages 193-199

  Bovée, Judith V M G ^a   Hogendoorn, Pancras C W ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Bone neoplasm; Cytogenetics; Diagnostics; Molecular pathology; Soft tissue tumours

Indexed keywords

IMATINIB; PLATELET DERIVED GROWTH FACTOR A; PROTEIN TYROSINE KINASE INHIBITOR; RNA BINDING PROTEIN EWS;

ANEURYSMAL BONE CYST; ANTINEOPLASTIC ACTIVITY; CANCER DIAGNOSIS; CANCER MORPHOLOGY; CARCINOGENESIS; CHONDROSARCOMA; CHROMOSOME TRANSLOCATION; DIFFERENTIAL DIAGNOSIS; DRUG EFFICACY; DRUG TARGETING; EWING SARCOMA; FUSION GENE; GASTROINTESTINAL STROMAL TUMOR; GENE AMPLIFICATION; GENE FUNCTION; GENETIC MARKER; GENETIC MODEL; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; KARYOTYPE; MINIMAL RESIDUAL DISEASE; MOLECULAR GENETICS; ONCOGENE C KIT; PATHOLOGIST; PREDICTION; PRIORITY JOURNAL; REVIEW; SARCOMA; SMALL CELL SARCOMA; SOMATIC MUTATION; SPINDLE CELL SARCOMA; TRANSCRIPTION REGULATION; TREATMENT OUTCOME; TUMOR CLASSIFICATION; TUMOR GROWTH; UPREGULATION; BONE TUMOR; GENETICS; KARYOTYPING; PATHOLOGY;

BONE NEOPLASMS; DIAGNOSIS, DIFFERENTIAL; HUMANS; KARYOTYPING; SARCOMA;

EID: 77950358906     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00428-009-0828-5     Document Type: Review

References (71)

1. Mitelman F, Johansson B, Mertens F (2007) The impact of translocations and gene fusions on cancer causation. Nat Rev Cancer 7:233-245
2. de Alava E (2007) Molecular pathology in sarcomas. Clin Transl Oncol 9:130-144
3. Fletcher CDM, Unni KK, Mertens F (2002) WHO Classification of tumours. Pathology and genetics of tumours of soft tissue and bone. IARC Press, Lyon
4. Hogendoorn PC, Collin F, Daugaard S et al (2004) Changing concepts in the pathological basis of soft tissue and bone sarcoma treatment. Eur J Cancer 40:1644-1654
5. Mitelman F, Johansson B, Mertens F (2007) The impact of translocations and gene fusions on cancer causation. Nat Rev Cancer 7:233-245
6. Janknecht R (2005) EWS-ETS oncoproteins: the linchpins of Ewing tumors. Gene 363:1-14
7. O'Brien KP, Seroussi E, Dal Cin P et al (1998) Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas. Genes Chromosomes Cancer 23:187-193
8. Shimizu A, O'Brien KP, Sjoblom T et al (1999) The dermatofibrosarcoma protuberans-associated collagen type I alpha 1/ platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res 59:3719-3723
9. OliveiraAM,Hsi BL,Weremowicz S et al (2004) USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res 64:1920-1923
10. Oliveira AM, Perez-Atayde AR, Dal Cin P et al (2005) Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene 24(21):3419-3426
11. Oliveira AM, Chou MM, Perez-Atayde A et al (2006) Aneurysmal bone cyst: a neoplasm driven by upregulation of the USP6 oncogene. J Clin Oncol 24:e1
12. Masuda-Robens JM, Kutney SN, Qi H et al (2003) The TRE17 oncogene encodes a component of a novel effector pathway for Rho GTPases Cdc42 and Rac1 and stimulates actin remodeling. Mol Cell Biol 23:2151-2161
13. Jin W, Yun C, Hobbie A et al (2007) Cellular transformation and activation of the phosphoinositide-3-kinase-Akt cascade by the ETV6-NTRK3 chimeric tyrosine kinase requires c-Src. Cancer Res 67:3192-3200
14. Dal Cin P, Sciot R, Brys P et al (2000) Recurrent chromosome aberrations in fibrous dysplasia of the bone: a report of the CHAMP study group. CHromosomes and MorPhology. Cancer Genet Cytogenet 122:30-32
15. Bianco P, Riminucci M, Majolagbe A et al (2000) Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res 15:120-128
16. Okamoto S, Hisaoka M, Ushijima M et al (2000) Activating Gs (alpha) mutation in intramuscular myxomas with and without fibrous dysplasia of bone. Virchows Arch 437:133-137
17. Faivre L, Nivelon-Chevallier A, Kottler ML et al (2001) Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. Am J Med Genet 99:132-136
18. Willems SM, Mohseny AB, Balog C, Sewrajsing R, Briaire-de Bruijn IH, Knijnenburg J, Cleton-Jansen AM, Sciot R, Fletcher CD, Deelder AM, Szuhai K, Hensbergen PJ, Hogendoorn PCW (2009) Cellular/intramuscular myxoma and grade I myxofibrosarcoma are characterized by distinct genetic alterations and specific composition of their extracellular matrix. J Cell Mol Med 13 (7):1291-1301
19. Isakoff MS, Sansam CG, Tamayo P et al (2005) Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Proc Natl Acad Sci U S A 102:17745-17750
20. McKenna ES, Sansam CG, Cho YJ et al (2008) Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol 28:6223-6233
21. Dei Tos AP, Doglioni C, Piccinin S et al (2000) Coordinated expression and amplification of the MDM2, CDK4, and HMGI-C genes in atypical lipomatous tumours. J Pathol 190:531-536
22. Meis-Kindblom JM, Sjogren H, Kindblom LG et al (2001) Cytogenetic and molecular genetic analyses of liposarcoma and its soft tissue simulators: recognition of new variants and differential diagnosis. Virchows Arch 439:141-151
23. Sandberg AA (2004) Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: liposarcoma. Cancer Genet Cytogenet 155:1-24
24. Kanoe H, Nakayama T, Murakami H et al (1998) Amplification of the CDK4 gene in sarcomas: tumor specificity and relationship with the RB gene mutation. Anticancer Res 18:2317-2321
25. Willems SM, Debiec-Rychter M, Szuhai K et al (2006) Local recurrence of myxofibrosarcoma is associated with increase in tumour grade and cytogenetic aberrations, suggesting a multistep tumour progression model. Mod Pathol 19:407-416
26. Sreekantaiah C, Davis JR, Sandberg AA (1993) Chromosomal abnormalities in leiomyosarcomas. Am J Surg Pathol 142:293-305
27. Bovée JVMG (2008) Multiple osteochondromas. Orphanet J Rare Dis 3:3
28. Bovée JVMG, Cleton-Jansen AM, Wuyts W et al (1999) EXTmutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet 65:689-698
29. Hameetman L, Szuhai K, Yavas A et al (2007) The role of EXT1 in non hereditary osteochondroma: identification of homozygous deletions. J Natl Cancer Inst 99:396-406
30. Bovée JVMG, Cleton-Jansen AM, Kuipers-Dijkshoorn N et al (1999) Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma. Genes Chrom Cancer 26:237-246
31. Hallor KH, Staaf J, Bovée JVMG et al (2009) Genomic Profiling of Chondrosarcoma: Chromosomal Patterns in Central and Peripheral Tumors. Clin Cancer Res 15(8):2685-2694
32. Schrage YM, Hameetman L, Szuhai K et al (2009) Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. Am J Pathol 174:979-988
33. Tallini G, Dorfman H, Brys P et al (2002) Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours. A report from the chromosomes and morphology (CHAMP) collaborative study group. J Pathol 196:194-203
34. Bovée JVMG, Sciot R, Dal Cin P et al (2001) Chromosome 9 alterations and trisomy 22 in central chondrosarcoma: a cytogenetic and DNA flow cytometric analysis of chondrosarcoma subtypes. Diagn Mol Pathol 10:228-236
35. Schrage YM, Lam S, Jochemsen AG et al. (2008). Central chondrosarcoma progression is associated with pRb pathway alterations; CDK4 downregulation and p16 overexpression inhibit cell growth in vitro. J Cell Mol Med
36. World Health Organization Classification of Tumours (2002) Pathology and genetics of tumours of soft tissue and bone. IARC Press, Lyon
37. Graadt van Roggen JF, Bovée JVMG, Morreau J et al (1999) Diagnostic and prognostic implications of the unfolding molecular biology of bone and soft tissue tumours. J Clin Pathol 52:481-489
38. Peter M, Gilbert E, Delattre O (2001) A multiplex real-time PCR assay for the detection of gene fusions observed in solid tumors. Lab Invest 81:905-912
39. Weaver J, Downs-Kelly E, Goldblum JR et al (2008) Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms. Mod Path 21:943-949
40. Sirvent N, Coindre JM, Maire G et al (2007) 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 31:1476-1489
41. Avigad S, Cohen IJ, Zilberstein J et al (2004) The predictive potential of molecular detection in the nonmetastatic Ewing family of tumors. Cancer 100:1053-1058
42. Fagnou C, Michon J, Peter M et al (1998) Presence of tumor cells in bone marrow but not in blood is associated with adverse prognosis in patients with Ewing's tumor. Societe Francaise d'Oncologie Pediatrique. J Clin Oncol 16:1707-1711
43. Schleiermacher G, Peter M, Oberlin O et al (2003) Increased risk of systemic relapses associated with bone marrow micrometastasis and circulating tumor cells in localized ewing tumor. J Clin Oncol 21:85-91
44. Yaniv I, Cohen IJ, Stein J et al (2004) Tumor cells are present in stem cell harvests of Ewings sarcoma patients and their persistence following transplantation is associated with relapse. Pediatr Blood Cancer 42:404-409
45. Athale UH, Shurtleff SA, Jenkins JJ et al (2001) Use of reverse transcriptase polymerase chain reaction for diagnosis and staging of alveolar rhabdomyosarcoma, Ewing sarcoma family of tumors, and desmoplastic small round cell tumor. J Pediatr Hematol Oncol 23:99-104
46. Ed A, Kawai A, Healy JH et al (1998) EWS-FL11 fusion transcript structure is an independent determinant of prognosis in Ewing's sarcoma. J Clin Oncol 16:1248-1255
47. Kawai A, Woodruff J, Healy JH et al (1998) SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma. N Engl J Med 338:153-160 (Pubitemid 28041862)
48. Ladanyi M, Antonescu CR, Leung DH et al (2002) Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients. Cancer Res 62:135-140
49. Coindre JM, Pelmus M, Hostein I et al (2003) Should molecular testing be required for diagnosing synovial sarcoma? A prospective study of 204 cases. Cancer 98:2700-2707
50. Guillou L, Benhattar J, Terrier P et al (2003) SYT-SSX fusion type is not a prognostic factor in synovial sarcoma (SS) patients. A multi-institutional study of 182 cases. Mod Path 16:13A
51. Zoubek A, Dockhorn-Dworniczak B, Delattre O et al (1996) Does expression of different EWS chimeric transcripts define clinically distinct risk groups of Ewing tumor patients? J Clin Oncol 14:1245-1251
52. Le Deley M-C, Delattre O, Schaefer KL et al. (2009). 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
53. Szuhai K, Ijszenga M, Tanke HJ et al (2006) Molecular cytogenetic characterization of four previously established and two newly established Ewing sarcoma cell lines. Cancer Genet Cytogenet 166:173-179
54. Wei G, Antonescu CR, de Alava E et al (2000) Prognostic impact of INK4A deletion in Ewing sarcoma. Cancer 89:793-799 (Pubitemid 30658578)
55. Tsuchiya T, Sekine K, Hinohara S et al (2000) Analysis of the p16INK4, p14ARF, p15, TP53, and MDM2 genes and their prognostic implications in osteosarcoma and Ewing sarcoma. Cancer Genet Cytogenet 120:91-98
56. Ueda Y, Dockhorn-Dworniczak B, Blasius S et al (1993) Analysis of mutant p53 protein in osteosarcomas and other malignant and benign lesions of bone. J Cancer Res Clin Oncol 119:172-178
57. Armengol G, Tarkkanen M, Virolainen M et al (1997) Recurrent gains of 1q, 8 and 12 in the Ewing family of tumours by comparative genomic hybridization. Br J Cancer 75:1403-1409
58. Verweij J, Casali PG, Zalcberg J et al (2004) Progression-free survival in gastrointestinal stromal tumours with high-dose imatinib: randomised trial. Lancet 364:1127-1134
59. Sciot R, Debiec-Rychter M, Daugaard S et al (2008) Distribution and prognostic value of histopathologic data and immunohistochemical markers in gastrointestinal stromal tumours (GISTs): an analysis of the EORTC phase III trial of treatment of metastatic GISTs with imatinib mesylate. Eur J Cancer 44(13):1855-1860
60. Van Glabbeke M, Verweij J, Casali PG et al (2005) Initial and late resistance to imatinib in advanced gastrointestinal stromal tumors are predicted by different prognostic factors: a European organisation for research and treatment of cancer-Italian Sarcoma groupaustralasian gastrointestinal trials group study. J Clin Oncol 23:5795-5804
61. Fletcher CDM, Berman JJ, Corless C et al (2002) Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol 33:459-465 (Pubitemid 34747864)
62. Heinrich MC, Corless CL, Demetri GD et al (2003) Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 21:4342-4349
63. Debiec-Rychter M, Sciot R, Le Cesne A et al (2006) KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer 42:1093-1103
64. Heinrich MC, Corless CL, Blanke CD et al (2006) Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. J Clin Oncol 24:4764-4774
65. Debiec-Rychter M, Cools J, Dumez H et al (2005) Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. Gastroenterology 128:270-279
66. Romeo S, Diebiec-Rychter M, Van Glabbeke M et al (2009) Cell cycle/apoptosis molecules expression correlates with Imatinib response in patients with advanced gastro-intestinal stromal tumours. Clin Cancer Res 15:4191-4198
67. Corless CL, Heinrich MC (2008) Molecular pathobiology of gastrointestinal stromal sarcomas. Annu Rev Pathol 3:557-586
68. Blay JY, Bonvalot S, Casali P et al (2005) Consensus meeting for the management of gastrointestinal stromal tumors. Report of the GIST consensus conference of 20-21 March 2004, under the auspices of ESMO. Ann Oncol 16:566-578
69. Paulussen M, Bielack S, Jurgens H et al (2008) Ewing's sarcoma of the bone: ESMO clinical recommendations for diagnosis, treatment and follow-up. Ann Oncol 19(Suppl 2):ii97-ii98
70. Bielack S, Carrle D, Jost L (2008) Osteosarcoma: ESMO clinical recommendations for diagnosis, treatment and follow-up. Ann Oncol 19(Suppl 2):ii94-ii96
71. Jansen-Landheer ML, Krijnen P, Oostindier MJ et al (2009) Improved diagnosis and treatment of soft tissue sarcoma patients after implementation of national guidelines: a population-based study. Eur J Surg Oncol. doi:10.1016/j.ejso. 2009.05.002