The Role of Molecular Testing in the Diagnosis of Cutaneous Soft Tissue Tumors

Seminars in Cutaneous Medicine and Surgery

Volumn 31, Issue 4, 2012, Pages 221-233

  Cheah, Alison L ^a   Billings, Steven D ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Angiomatoid fibrous histiocytoma; Clear cell sarcoma; Cytogenetics; Dermatofibrosarcoma protuberans; Epithelioid hemangioendothelioma; Ewing sarcoma; FISH; Low grade fibromyxoid sarcoma; Postradiation angiosarcoma

Indexed keywords

ANGIOMATOID FIBROUS HISTIOCYTOMA; ANGIOSARCOMA; CLEAR CELL SARCOMA; DERMATOFIBROMA; DERMATOFIBROSARCOMA PROTUBERANS; DERMIS; DIAGNOSTIC TEST; EPITHELIOID HEMANGIOENDOTHELIOMA; EWING SARCOMA; FIBROMYXOID SARCOMA; HEMANGIOENDOTHELIOMA; HUMAN; MESENCHYMOMA; MOLECULAR DIAGNOSIS; POSTRADIATION ANGIOSARCOMA; REVIEW; SKIN TUMOR; SOFT TISSUE TUMOR; SUBCUTANEOUS TISSUE; SUBCUTANEOUS TISSUE TUMOR;

DERMATOFIBROSARCOMA; HEMANGIOENDOTHELIOMA, EPITHELIOID; HEMANGIOSARCOMA; HISTIOCYTOMA, MALIGNANT FIBROUS; HUMANS; NEOPLASMS, RADIATION-INDUCED; SARCOMA; SARCOMA, CLEAR CELL; SARCOMA, EWING; SKIN NEOPLASMS; SOFT TISSUE NEOPLASMS;

EID: 84869775723     PISSN: 10855629     EISSN: 15580768     Source Type: Journal    
DOI: 10.1016/j.sder.2012.07.008     Document Type: Review

References (154)

1. Brewer J.D., Roenigk R.K., Otley C.C. Wide local excision or Mohs micrographic surgery for primary dermatofibrosarcoma protuberans. Am J Clin Oncol 2011, 34:545-546.
2. Meguerditchian A.N., Wang J., Lema B., et al. Wide excision or mohs micrographic surgery for the treatment of primary dermatofibrosarcoma protuberans. Am J Clin Oncol 2010, 33:300-303.
3. 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.
4. Maire G., Pédeutour F., Coindre J.M. COL1A1-PDGFB gene fusion demonstrates a common histogenetic origin for dermatofibrosarcoma protuberans and its granular cell variant. Am J Surg Pathol 2002, 26:932-937.
5. Mentzel T., Schärer L., Kazakov D.V., et al. Myxoid dermatofibrosarcoma protuberans: Clinicopathologic, immunohistochemical, and molecular analysis of eight cases. Am J Dermatopathol 2007, 29:443-448.
6. Abbott J.J., Oliveira A.M., Nascimento A.G. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol 2006, 30:436-443.
7. Goldblum J.R., Reith J.D., Weiss S.W. Sarcomas arising in dermatofibrosarcoma protuberans: A reappraisal of biologic behavior in eighteen cases treated by wide local excision with extended clinical follow up. Am J Surg Pathol 2000, 24:1125-1130.
8. Zelger B., Zelger B. Sarcomas arising in dermatofibrosarcoma protuberans: Collision or illusion?. Am J Surg Pathol 2001, 25:1106-1108.
9. Mentzel T., Beham A., Katenkamp D., et al. Fibrosarcomatous ("high-grade") dermatofibrosarcoma protuberans: Clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance. Am J Surg Pathol 1998, 22:576-587.
10. Patel K.U., Szabo S.S., Hernandez V.S., et al. Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays. Hum Pathol 2008, 39:184-193.
11. Wang J., Morimitsu Y., Okamoto S., et al. COL1A1-PDGFB fusion transcripts in fibrosarcomatous areas of six dermatofibrosarcomas protuberans. J Mol Diagn 2000, 2:47-52.
12. Sheng W.Q., Hashimoto H., Okamoto S., et al. Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans. J Pathol 2001, 194:88-94.
13. Minoletti F., Miozzo M., Pedeutour F., et al. Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans. Genes Chromosomes Cancer 1995, 13:62-65.
14. Pedeutour F., Simon M.P., Minoletti F., et al. Ring 22 chromosomes in dermatofibrosarcoma protuberans are low-level amplifiers of chromosome 17 and 22 sequences. Cancer Res 1995, 55:2400-2403.
15. Naeem R., Lux M.L., Huang S.F., et al. Ring chromosomes in dermatofibrosarcoma protuberans are composed of interspersed sequences from chromosomes 17 and 22. Am J Pathol 1995, 147:1553-1558.
16. Sirvent N., Maire G., Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: From ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer 2003, 37:1-19.
17. Shimizu A., O'Brien K.P., Sjöblom T., et al. The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res 1999, 59:3719-3723.
18. Claesson-Welsh L. Platelet-derived growth factor receptor signals. J Biol Chem 1994, 269:32023-32026.
19. 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.
20. McArthur G. Molecularly targeted treatment for dermatofibrosarcoma protuberans. Semin Oncol 2004, 31:30-36.
21. McArthur G.A., Demetri G.D., van Oosterom A., et al. Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib target exploration consortium study. J Clin Oncol 2005, 23:866-873. B2225.
22. Salgado R., Llombart B., Pujol R.M., et al. Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies. Genes Chromosomes Cancer 2011, 50:510-517.
23. Llombart B., Sanmartín O., López-Guerrero J.A., et al. Dermatofibrosarcoma protuberans: Clinical, pathological, and genetic (COL1A1-PDGFB) study with therapeutic implications. Histopathology 2009, 54:860-872.
24. Kutzner H., Mentzel T., Palmedo G., et al. Plaque-like CD34-positive dermal fibroma ("medallion-like dermal dendrocyte hamartoma"): Clinicopathologic, immunohistochemical, and molecular analysis of 5 cases emphasizing its distinction from superficial, plaque-like dermatofibrosarcoma protuberans. Am J Surg Pathol 2010, 34:190-201.
25. Macarenco R.S., Zamolyi R., Franco M.F., et al. Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans. Genes Chromosomes Cancer 2008, 47:260-265.
26. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone 2002, IARC Press, Lyon, France. C.D. Fletcher, K.K. Unni, F. Mertens (Eds.).
27. Costa M.J., Weiss S.W. Angiomatoid malignant fibrous histiocytoma. A follow-up study of 108 cases with evaluation of possible histologic predictors of outcome. Am J Surg Pathol 1990, 14:1126-1132.
28. Chen G., Folpe A.L., Colby T.V., et al. Angiomatoid fibrous histiocytoma: Unusual sites and unusual morphology. Mod Pathol 2011, 24:1560-1567.
29. Dunham C., Hussong J., Seiff M., et al. Primary intracerebral angiomatoid fibrous histiocytoma: Report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes. Am J Surg Pathol 2008, 32:478-484.
30. Enzinger F.M. Angiomatoid malignant fibrous histiocytoma: A distinct fibrohistiocytic tumor of children and young adults simulating a vascular neoplasm. Cancer 1979, 44. 2147-2145.
31. Hasegawa T., Seki K., Ono K., et al. Angiomatoid (malignant) fibrous histiocytoma: A peculiar low-grade tumor showing immunophenotypic heterogeneity and ultrastructural variations. Pathol Int 2000, 50:731-738.
32. Seo I.S., Frizzera G., Coates T.D., et al. Angiomatoid malignant fibrous histiocytoma with extensive lymphadenopathy simulating Castleman's disease. Pediatr Pathol 1986, 6:233-247.
33. Weinreb I., Rubin B.P., Goldblum J.R. Pleomorphic angiomatoid fibrous histiocytoma: A case confirmed by fluorescence in situ hybridization analysis for EWSR1 rearrangement. J Cutan Pathol 2008, 35:855-860.
34. Moura R.D., Wang X., Lonzo M.L., et al. Reticular angiomatoid "malignant" fibrous histiocytoma-A case report with cytogenetics and molecular genetic analyses. Hum Pathol 2011, 42:1359-1363.
35. Pettinato G., Manivel J.C., De Rosa G., et al. Angiomatoid malignant fibrous histiocytoma: Cytologic, immunohistochemical, ultrastructural, and flow cytometric study of 20 cases. Mod Pathol 1990, 3:479-487.
36. Smith M.E., Costa M.J., Weiss S.W. Evaluation of CD68 and other histiocytic antigens in angiomatoid malignant fibrous histiocytoma. Am J Surg Pathol 1991, 15:757-763.
37. Fanburg-Smith J.C., Miettinen M. Angiomatoid "malignant" fibrous histiocytoma: A clinicopathologic study of 158 cases and further exploration of the myoid phenotype. Hum Pathol 1999, 30:1336-1343.
38. Antonescu C.R., Nafa K., Segal N.H., et al. EWS-CREB1: A recurrent variant fusion in clear cell sarcoma-Association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res 2006, 12:5356-5362.
39. Rossi S., Szuhai K., Ijszenga M., et al. EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma. Clin Cancer Res 2007, 13:7322-7328.
40. Hallor K.H., Mertens F., Jin Y., et al. Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer 2005, 44:97-102.
41. Hallor K.H., Micci F., Meis-Kindblom J.M., et al. Fusion genes in angiomatoid fibrous histiocytoma. Cancer Lett 2007, 251:158-163.
42. Bertolotti A., Melot T., Acker J., et al. EWS, but not EWS-FLI-1, is associated with both TFIID and RNA polymerase II: Interactions between two members of the TET family, EWS and hTAFII68, and subunits of TFIID and RNA polymerase II complexes. Mol Cell Biol 1998, 18:1489-1497.
43. Tan A.Y., Manley J.L. The TET family of proteins: Functions and roles in disease. J Mol Cell Biol 2009, 1:82-89.
44. Mitton B., Cho E.C., Aldana-Masangkay G.I., et al. The function of cyclic-adenosine monophosphate responsive element-binding protein in hematologic malignancies. Leuk Lymphoma 2011, 52:2057-2063.
45. Shaywitz A.J., Greenberg M.E. CREB: A stimulus-induced transcription factor activated by a diverse array of extracellular signals. Annu Rev Biochem 1999, 68:821-826.
46. Tanas M.R., Rubin B.P., Montgomery E.A., et al. Utility of FISH in the diagnosis of angiomatoid fibrous histiocytoma: A series of 18 cases. Mod Pathol 2010, 23:93-97.
47. Arvand A., Denny C.T. Biology of EWS/ETS fusions in Ewing's family tumors. Oncogene 2001, 20:5747-5754.
48. 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.
49. Biegel J.A., Conard K., Brooks J.J. Translocation (11;22)(p13;q12): Primary change in intra-abdominal desmoplastic small round cell tumor. Genes Chromosomes Cancer 1993, 7:119-121.
50. Ladanyi M., Gerald W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 1994, 54:2837-2840.
51. Panagopoulos I., Mertens F., Dêbiec-Rychter M., et al. Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses. Int J Cancer 2002, 99:560-567.
52. Coindre J.M., Hostein I., Terrier P., et al. Diagnosis of clear cell sarcoma by real-time reverse transcriptase-polymerase chain reaction analysis of paraffin embedded tissues: Clinicopathologic and molecular analysis of 44 patients from the French Sarcoma Group. Cancer 2006, 107:1055-1064.
53. Hisaoka M., Ishida T., Kuo T.T., et al. Clear cell sarcoma of soft tissue: A clinicopathologic, immunohistochemical, and molecular analysis of 33 cases. Am J Surg Pathol 2008, 32:452-460.
54. Wang W.L., Mayordomo E., Zhang W., et al. Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts). Mod Pathol 2009, 22:1201-1209.
55. Sciot R., Dal Cin P., Fletcher C., et al. T(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: Evaluation of three cases. Mod Pathol 1995, 8:765-768.
56. Brody R.I., Ueda T., Hamelin A., et al. Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma. Am J Pathol 1997, 150:1049-1058.
57. Flucke U., Palmedo G., Blankenhorn N., et al. EWSR1 gene rearrangement occurs in a subset of cutaneous myoepithelial tumors: A study of 18 cases. Mod Pathol 2011, 24:1444-1450.
58. Enzinger and Weiss's Soft Tissue Tumors 2008, Mosby Elsevier, Philadelphia. (ed 5). S.W. Weiss, J.R. Goldblum (Eds.).
59. Lyle P.L., Amato C.M., Fitzpatrick J.E., et al. Gastrointestinal melanoma or clear cell sarcoma?. molecular evaluation of 7 cases previously diagnosed as malignant melanoma. Am J Surg Pathol 2008, 32:858-866.
60. Hantschke M., Mentzel T., Rütten A., et al. Cutaneous clear cell sarcoma: A clinicopathologic, immunohistochemical, and molecular analysis of 12 cases emphasizing its distinction from dermal melanoma. Am J Surg Pathol 2010, 34:216-222.
61. Langezaal S.M., Graadt van Roggen J.F., Cleton-Jansen A.M., et al. Malignant melanoma is genetically distinct from clear cell sarcoma of tendons and aponeurosis (malignant melanoma of soft parts). Br J Cancer 2001, 84:535-538.
62. Panagopoulos I., Mertens F., Isaksson M., et al. Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses). Cancer Genet Cytogenet 2005, 156:74-76.
63. Garcia J.J., Kramer M.J., O'Donnell R.J., et al. Mismatch repair protein expression and microsatellite instability: A comparison of clear cell sarcoma of soft parts and metastatic melanoma. Mod Pathol 2006, 19:950-957.
64. Hussein M.R. Genetic pathways to melanoma tumorigenesis. J Clin Pathol 2004, 57:797-801.
65. Palmieri G., Ascierto P.A., Cossu A., et al. Assessment of genetic instability in melanocytic skin lesions through microsatellite analysis of benign naevi, dysplastic naevi, and primary melanomas and their metastases. Melanoma Res 2003, 13:167-170.
66. Aue G., Hedges L.K., Schwartz H.S., et al. Clear cell sarcoma or malignant melanoma of soft parts: Molecular analysis of microsatellite instability with clinical correlation. Cancer Genet Cytogenet 1998, 105:24-28.
67. Davis I.J., Kim J.J., Ozsolak F., et al. Oncogenic MITF dysregulation in clear cell sarcoma: Defining the MiT family of human cancers. Cancer Cell 2006, 9:473-484.
68. Antonescu C.R., Tschernyavsky S.J., Woodruff J.M., et al. Molecular diagnosis of clear cell sarcoma: Detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases. J Mol Diagn 2002, 4:44-52.
69. Li K.K., Goodall J., Goding C.R., et al. The melanocyte inducing factor MITF is stably expressed in cell lines from human clear cell sarcoma. Br J Cancer 2003, 89:1072-1078.
70. Patel R.M., Downs-Kelly E., Weiss S.W., et al. Dual-color, break-apart fluorescence in situ hybridization for EWS gene rearrangement distinguishes clear cell sarcoma of soft tissue from malignant melanoma. Mod Pathol 2005, 18:1585-1590.
71. Davis I.J., McFadden A.W., Zhang Y., et al. Identification of the receptor tyrosine kinase c-met and its ligand, hepatocyte growth factor, as therapeutic targets in clear cell sarcoma. Cancer Res 2010, 70:639-645.
72. Evans H.L. Low-grade fibromyxoid sarcoma. A report of 12 cases. Am J Surg Pathol 1993, 17:595-600.
73. Laurini J.A., Zhang L., Goldblum J.R., et al. Low-grade fibromyxoid sarcoma of the small intestine: Report of 4 cases with molecular cytogenetic confirmation. Am J Surg Pathol 2011, 35:1069-1073.
74. 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.
75. Takanami I., Takeuchi K., Naruke M. Low-grade fibromyxoid sarcoma arising in the mediastinum. J Thorac Cardiovasc Surg 1999, 118:970-971.
76. Evans H.L. Low-grade fibromyxoid sarcoma. A report of two metastasizing neoplasms having a deceptively benign appearance. Am J Clin Pathol 1987, 88:615-619.
77. Billings S.D., Giblen G., Fanburg-Smith J.C. Superficial low-grade fibromyxoid sarcoma (Evans tumor): A clinicopathologic analysis of 19 cases with a unique observation in the pediatric population. Am J Surg Pathol 2005, 29:204-210.
78. Folpe A.L., Lane K.L., Paull G., et al. Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes: A clinicopathologic study of 73 cases supporting their identity and assessing the impact of high-grade areas. Am J Surg Pathol 2000, 24:1353-1360.
79. Lane K.L., Shannon R.J., Weiss S.W. Hyalinizing spindle cell tumor with giant rosettes: A distinctive tumor closely resembling low-grade fibromyxoid sarcoma. Am J Surg Pathol 1997, 21:1481-1488.
80. Reid R., de Silva M.V., Paterson L., et al. Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes share a common t(7;16)(q34;p11) translocation. Am J Surg Pathol 2003, 27:1229-1236.
81. 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.
82. Mertens F., Fletcher C.D., Antonescu C.R., et al. Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene. Lab Invest 2005, 85:408-415.
83. Storlazzi C.T., Mertens F., Nascimento A., et al. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. Hum Mol Genet 2003, 12:2349-2358.
84. Panagopoulos I., Möller E., Dahlén A., et al. Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera. Genes Chromosomes Cancer 2007, 46:181-189.
85. Panagopoulos I., Storlazzi C.T., Fletcher C.D., et al. The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. Genes Chromosomes Cancer 2004, 40. 218-212.
86. 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.
87. Downs-Kelly E., Goldblum J.R., Patel R.M., et al. The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. Am J Surg Pathol 2008, 32:8-13.
88. Patel R.M., Downs-Kelly E., Dandekar M.N., et al. Fus (16p11) gene rearrangement as detected by fluorescence in-situ hybridization in cutaneous low-grade fibromyxoid sarcoma: A potential diagnostic tool. Am J Dermatopathol 2011, 33:140-143.
89. Billings S.D., McKenney J.K., Folpe A.L., et al. Cutaneous angiosarcoma following breast-conserving surgery and radiation: An analysis of 27 cases. Am J Surg Pathol 2004, 28:781-788.
90. Shon W., Ida C.M., Boland-Froemming J.M., et al. Cutaneous angiosarcoma arising in massive localized lymphedema of the morbidly obese: A report of five cases and review of the literature. J Cutan Pathol 2011, 38:560-564.
91. Deyrup A.T., Miettinen M., North P.E., et al. Pediatric cutaneous angiosarcomas: A clinicopathologic study of 10 cases. Am J Surg Pathol 2011, 35:70-75.
92. Brenn T., Fletcher C.D. Radiation-associated cutaneous atypical vascular lesions and angiosarcoma: Clinicopathologic analysis of 42 cases. Am J Surg Pathol 2005, 29:983-996.
93. Gengler C., Coindre J.M., Leroux A., et al. Vascular proliferations of the skin after radiation therapy for breast cancer: Clinicopathologic analysis of a series in favor of a benign process: A study from the French Sarcoma Group. Cancer 2007, 109:1584-1598.
94. Fineberg S., Rosen P.P. Cutaneous angiosarcoma and atypical vascular lesions of the skin and breast after radiation therapy for breast carcinoma. Am J Clin Pathol 1994, 102:757-763.
95. Patton K.T., Deyrup A.T., Weiss S.W. Atypical vascular lesions after surgery and radiation of the breast: A clinicopathologic study of 32 cases analyzing histologic heterogeneity and association with angiosarcoma. Am J Surg Pathol 2008, 32:943-950.
96. Manner J., Radlwimmer B., Hohenberger P., et al. MYC high level gene amplification is a distinctive feature of angiosarcomas after irradiation or chronic lymphedema. Am J Pathol 2010, 176:34-39.
97. Mentzel T., Schildhaus H.U., Palmedo G., et al. Postradiation cutaneous angiosarcoma after treatment of breast carcinoma is characterized by MYC amplification in contrast to atypical vascular lesions after radiotherapy and control cases: Clinicopathological, immunohistochemical and molecular analysis of 66 cases. Mod Pathol 2012, 25:75-85.
98. Guo T., Zhang L., Chang N.E., et al. Consistent MYC and FLT4 gene amplification in radiation-induced angiosarcoma but not in other radiation-associated atypical vascular lesions. Genes Chromosomes Cancer 2011, 50:25-33.
99. Fernandez A.P., Sun Y., Tubbs R.R., et al. FISH for MYC amplification and anti-MYC immunohistochemistry: Useful diagnostic tools in the assessment of secondary angiosarcoma and atypical vascular proliferations. J Cutan Pathol 2012, 39:234-242.
100. Dang C.V., O'Donnell K.A., Zeller K.I., et al. The c-myc target gene network. Semin Cancer Biol 2006, 16:253-264.
101. Nesbit C.E., Tersak J.M., Prochownik E.V. MYC oncogenes and human neoplastic disease. Oncogene 1999, 18:3004-3016.
102. Morrison C., Radmacher M., Mohammed N., et al. MYC amplification and polysomy 8 in chondrosarcoma: Array comparative genomic hybridization, fluorescent in situ hybridization, and association with outcome. J Clin Oncol 2005, 23:9369-9376.
103. Lualdi E., Modena P., Debiec-Rychter M., et al. Molecular cytogenetic characterization of proximal-type epithelioid sarcoma. Genes Chromosomes Cancer 2004, 41:283-290.
104. Barrios C., Castresana J.S., Ruiz J., et al. Amplification of the c-myc proto-oncogene in soft tissue sarcomas. Oncology 1994, 51:13-17.
105. Xu J., Chen Y., Olopade O.I. MYC and breast cancer. Genes Cancer 2010, 1:629-640.
106. Iwakawa R., Kohno T., Kato M., et al. MYC amplification as a prognostic marker of early-stage lung adenocarcinoma identified by whole genome copy number analysis. Clin Cancer Res 2011, 17:1481-1489.
107. Barrios C., Castresana J.S., Kreicbergs A. Clinicopathologic correlations and short-term prognosis in musculoskeletal sarcoma with c-myc oncogene amplification. Am J Clin Oncol 1994, 17:273-276.
108. Weiss S.W., Enzinger F.M. Epithelioid hemangioendothelioma: a vascular tumor often mistaken for a carcinoma. Cancer 1982, 50:970-981.
109. Hristov A.C., Wisell J. A "high-risk" epithelioid hemangioendothelioma presenting as a solitary, ulcerated, subcutaneous tumor. Am J Dermatopathol 2011, 33:e88-e90.
110. Grézard P., Balme B., Ceruse P., et al. Ulcerated cutaneous epithelioid hemangioendothelioma. Eur J Dermatol 1999, 9:487-490.
111. Deyrup A.T., Tighiouart M., Montag A.G., et al. Epithelioid hemangioendothelioma of soft tissue: A proposal for risk stratification based on 49 cases. Am J Surg Pathol 2008, 32:924-927.
112. Mentzel T., Beham A., Calonje E., et al. Epithelioid hemangioendothelioma of skin and soft tissues: Clinicopathologic andimmunohistochemical study of 30 cases. Am J Surg Pathol 1997, 21:363-374.
113. Miettinen M., Wang Z.F., Paetau A., et al. ERG transcription factor as an immunohistochemical marker for vascular endothelial tumors and prostatic carcinoma. Am J Surg Pathol 2011, 35:432-441.
114. Tanas M.R., Sboner A., Oliveira A.M., et al. Identification of a disease-defining gene fusion in epithelioid hemangioendothelioma. Sci Transl Med 2011, 3. 98ra82.
115. Errani C., Zhang L., Sung Y.S., et al. A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. Genes Chromosomes Cancer 2011, 50:644-653.
116. Mendlick M.R., Nelson M., Pickering D., et al. Translocation t(1;3)(p36.3;q25) is a nonrandom aberration in epithelioid hemangioendothelioma. Am J Surg Pathol 2001, 25:684-687.
117. Hong J.H., Hwang E.S., McManus M.T., et al. TAZ, a transcriptional modulator of mesenchymal stem cell differentiation. Science 2005, 309:1074-1078.
118. Chan S.W., Lim C.J., Guo K., et al. A role for TAZ in migration, invasion, and tumorigenesis of breast cancer cells. Cancer Res 2008, 68:2592-2598.
119. de Cristofaro T., Di Palma T., Ferraro A., et al. TAZ/WWTR1 is overexpressed in papillary thyroid carcinoma. Eur J Cancer 2011, 47:926-933.
120. Zhou Z., Hao Y., Liu N., et al. TAZ is a novel oncogene in non-small cell lung cancer. Oncogene 2011, 30:2186.
121. Barbashina V., Salazar P., Holland E.C., et al. Allelic losses at 1p36 and 19q13 in gliomas: Correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene. Clin Cancer Res 2005, 11:1119-1128.
122. Henrich K.O., Bauer T., Schulte J., et al. CAMTA1, a 1p36 tumor suppressor candidate, inhibits growth and activates differentiation programs in neuroblastoma cells. Cancer Res 2011, 71:3142-3151.
123. Banerjee S.S., Agbamu D.A., Eyden B.P., et al. Clinicopathological characteristics of peripheral primitive neuroectodermal tumour of skin and subcutaneous tissue. Histopathology 1997, 31:355-366.
124. Hasegawa S.L., Davison J.M., Rutten A., et al. Primary cutaneous Ewing's sarcoma: Immunophenotypic and molecular cytogenetic evaluation of five cases. Am J Surg Pathol 1998, 22:310-318.
125. Ehrig T., Billings S.D., Fanburg-Smith J.C. Superficial primitive neuroectodermal tumor/Ewing sarcoma (PN/ES): Same tumor as deep PN/ES or new entity?. Ann Diagn Pathol 2007, 11:153-159.
126. Terrier-Lacombe M.J., Guillou L., Chibon F., et al. Superficial primitive Ewing's sarcoma: A clinicopathologic and molecular cytogenetic analysis of 14 cases. Mod Pathol 2009, 22:87-94.
127. Machado I., Llombart B., Calabuig-Fariñas S., et al. Superficial Ewing's sarcoma family of tumors: A clinicopathological study with differential diagnoses. J Cutan Pathol 2011, 38:636-643.
128. Delaplace M., Lhommet C., de Pinieux G., et al. Primary cutaneous Ewing sarcoma: A systematic review focused on treatment and outcome. Br J Dermatol 2012, 166:721-726.
129. Wasylyk B., Hahn S.L., Giovane A. The ETS family of transcription factors. Eur J Biochem 1993, 211:7-18.
130. de Alava E., Gerald W.L. Molecular biology of the Ewing's sarcoma/primitive neuroectodermal tumor family. J Clin Oncol 2000, 18:204-213.
131. Pinto A., Dickman P., Parham D. Pathobiologic markers of the Ewing sarcoma family of tumors: State of the art and prediction of behaviour. Sarcoma 2011, 2011:856190.
132. Maire G., Brown C.W., Bayani J., et al. Complex rearrangement of chromosomes 19, 21, and 22 in Ewing sarcoma involving a novel reciprocal inversion-insertion mechanism of EWS-ERG fusion gene formation: A case analysis and literature review. Cancer Genet Cytogenet 2008, 181:81-92.
133. Szuhai K., Ijszenga M., de Jong D., et al. The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology. Clin Cancer Res 2009, 15:2259-2268.
134. Berg T., Kalsaas A.H., Buechner J., et al. Ewing sarcoma-peripheral neuroectodermal tumor of the kidney with a FUS-ERG fusion transcript. Cancer Genet Cytogenet 2009, 194:53-57.
135. Shing D.C., McMullan D.J., Roberts P., et al. FUS/ERG gene fusions in Ewing's tumors. Cancer Res 2003, 63:4568-4576.
136. Ng T.L., O'Sullivan M.J., Pallen C.J., et al. Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV. J Mol Diagn 2007, 9:459-463.
137. Kawamura-Saito M., Yamazaki Y., Kaneko K., et al. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet 2006, 15:2125-2137.
138. Sumegi J., Nishio J., Nelson M., et al. A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. Mod Pathol 2011, 24:333-342.
139. Miyagawa Y., Okita H., Nakaijima H., et al. Inducible expression of chimeric EWS/ETS proteins confers Ewing's family tumor-like phenotypes to human mesenchymal progenitor cells. Mol Cell Biol 2008, 28:2125-2137.
140. Erkizan H.V., Uversky V.N., Toretsky J.A. Oncogenic partnerships: EWS-FLI1 protein interactions initiate key pathways of Ewing's sarcoma. Clin Cancer Res 2010, 16:4077-4083.
141. May W.A., Lessnick S.L., Braun B.S., et al. The Ewing's sarcoma EWS/FLI-1 fusion gene encodes a more potent transcriptional activator and is a more powerful transforming gene than FLI-1. Mol Cell Biol 1993, 13:7393-7398.
142. Bailly R.A., Bosselut R., Zucman J., et al. DNA-binding and transcriptional activation properties of the EWS-FLI-1 fusion protein resulting from the t(11;22) translocation in Ewing sarcoma. Mol Cell Biol 1994, 14:3241.
143. Ohno T., Rao V.N., Reddy E.S. EWS/FLI-1 chimeric protein is a transcriptional activator. Cancer Res 1993, 53:5859-5863.
144. Lin P.P., Wang Y., Lozano G. Mesenchymal stem cells and the origin of Ewing's sarcoma. Sarcoma 2011, 2011. pii:276463.
145. Machado I., Noguera R., Pellin A., et al. Molecular diagnosis of Ewing sarcoma family of tumors: A comparative analysis of 560 cases with FISH and RT-PCR. Diagn Mol Pathol 2009, 18. 189-189.
146. Bridge R.S., Rajaram V., Dehner L.P., et al. Molecular diagnosis of Ewing sarcoma/primitive neuroectodermal tumor in routinely processed tissue: A comparison of two FISH strategies and RT-PCR in malignant round cell tumors. Mod Pathol 2006, 19:1-8.
147. Mhawech-Fauceglia P., Herrmann F., Penetrante R., et al. Diagnostic utility of FLI-1 monoclonal antibody and dual-colour, break-apart probe fluorescence in situ (FISH) analysis in Ewing's sarcoma/primitive neuroectodermal tumour (EWS/PNET). A comparative study with CD99 and FLI-1 polyclonal antibodies. Histopathology 2006, 49:569-575.
148. Mangham D.C., Williams A., McMullan D.J., et al. Ewing's sarcoma of bone: The detection of specific transcripts in a large, consecutive series of formalin-fixed, decalcified, paraffin-embedded tissue samples using the reverse transcriptase-polymerase chain reaction. Histopathology 2006, 48:363-376.
149. Lewis T.B., Coffin C.M., Bernard P.S. Differentiating Ewing's sarcoma from other round blue cell tumors using a RT-PCR translocation panel on formalin-fixed paraffin-embedded tissues. Mod Pathol 2007, 20:397-404.
150. Hill D.A., O'Sullivan M.J., Zhu X., et al. Practical application of molecular genetic testing as an aid to the surgical pathologic diagnosis of sarcomas: A prospective study. Am J Surg Pathol 2002, 26:965-977.
151. Fritsch M.K., Bridge J.A., Schuster A.E., et al. Performance characteristics of a reverse transcriptase-polymerase chain reaction assay for the detection of tumor-specific fusion transcripts from archival tissue. Pediatr Dev Pathol 2003, 6:43-45.
152. Zucman J., Melot T., Desmaze C., et al. Combinatorial generation of variable fusion proteins in the Ewing family of tumours. EMBO J 1993, 12:4481-4487.
153. 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, 28:1982-1988.
154. van Doorninck J.A., Ji L., Schaub B., et al. Current treatment protocols have eliminated the prognostic advantage of type 1 fusions in Ewing sarcoma: A report from the children's oncology group. J Clin Oncol 2010, 28:1989-1994.