| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
From the Departments of Pathology
*
and Surgery,
Memorial Sloan-Kettering Cancer Center, New York; and Ludwig Institute for Cancer Research,
New York, New York
Clear cell sarcoma (CCS), also known as melanoma of soft parts, is an uncommon deep soft tissue tumor presenting typically in the lower extremities of young adults. Previous cytogenetic studies have established the specificity of the recurrent t(12;22)(q13;q12), resulting in a EWS-ATF1 fusion, for CCS. The prevalence of the EWS-ATF1 fusion in CCS remains unclear, since most genetically confirmed CCS have been reported as isolated cytogenetic or molecular diagnostic case reports. We therefore studied histologically confirmed CCS from 12 patients for the presence of EWS-ATF1 by reverse-transcriptase polymerase chain reaction (RT-PCR), using RNA extracted from either frozen (four cases) or formalin-fixed paraffin-embedded (eight cases) material. All primary tumors were located in the deep soft tissues of the extremities. Histologically, 10 cases had a typical epithelioid nested appearance. Most or all cases showed immunostaining for HMB45 (12 of 12), S-100 protein (10 of 12), and MITF (12 of 12). Ultrastructural analysis showed melanosomes in six of seven cases. The presence of an EWS-ATF1 fusion transcript was identified by RT-PCR in 11 of 12 cases (91%), all of which showed the same fusion transcript structure, namely the previously described in-frame fusion of EWS exon 8 to ATF1 codon 65. RT-PCR analysis for the melanocyte-specific splice form of the MITF transcript was positive in all cases tested (4 of 4). These data confirm that EWS-ATF1 detection can be used as a highly sensitive diagnostic test for CCS and that CCS expresses the melanocyte-specific form of the MITF transcript, further supporting its genuine melanocytic differentiation.
This article has been cited by other articles:
 |
|
 |
|
  I. Abdulkader, J. Cameselle-Teijeiro, E. de Alava, C. Ruiz-Ponte, M. M. Used-Aznar, and J. Forteza Intestinal Clear Cell Sarcoma With Melanocytic Differentiation and Extraskeletal Myxoid Chondrosarcoma Rearrangement: Report of a Case International Journal of Surgical Pathology, April 1, 2008; 16(2): 189 - 193. [Abstract] [PDF]
|
|
|
|
|
|
A. Righi, K. Dimosthenous, and J. Rosai PEComa: Another Member of the MiT Tumor Family? International Journal of Surgical Pathology, January 1, 2008; 16(1): 16 - 20. [Abstract] [PDF]
|
|
|
|
 |
|
 S. Rossi, K. Szuhai, M. Ijszenga, H. J. Tanke, L. Zanatta, R. Sciot, C. D.M. Fletcher, A. P. Dei Tos, and P. C.W. Hogendoorn EWSR1-CREB1 and EWSR1-ATF1 Fusion Genes in Angiomatoid Fibrous Histiocytoma Clin. Cancer Res., December 15, 2007; 13(24): 7322 - 7328. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. R. Antonescu, K. Nafa, N. H. Segal, P. Dal Cin, and M. Ladanyi EWS-CREB1: A Recurrent Variant Fusion in Clear Cell Sarcoma--Association with Gastrointestinal Location and Absence of Melanocytic Differentiation. Clin. Cancer Res., September 15, 2006; 12(18): 5356 - 5362. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 U Yamaguchi, T Hasegawa, Y Morimoto, U Tateishi, M Endo, F Nakatani, A Kawai, H Chuman, Y Beppu, M Endo, et al. A practical approach to the clinical diagnosis of Ewing's sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue J. Clin. Pathol., October 1, 2005; 58(10): 1051 - 1056. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Dewan, T. S. Malatani, and M. A. Ansari Lessons to be learned: a case study approach: Malignant melanoma of soft tissue The Journal of the Royal Society for the Promotion of Health, January 1, 2005; 125(1): 42 - 46. [Abstract] [PDF]
|
|
|
|
 |
|
 C.-C. Chang and V. B. Shidham Molecular Genetics of Pediatric Soft Tissue Tumors: Clinical Application J. Mol. Diagn., August 1, 2003; 5(3): 143 - 154. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. H. Segal, P. Pavlidis, C. R. Antonescu, R. G. Maki, W. S. Noble, D. DeSantis, J. M. Woodruff, J. J. Lewis, M. F. Brennan, A. N. Houghton, et al. Classification and Subtype Prediction of Adult Soft Tissue Sarcoma by Functional Genomics Am. J. Pathol., August 1, 2003; 163(2): 691 - 700. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. H. Segal, P. Pavlidis, W. S. Noble, C. R. Antonescu, A. Viale, U. V. Wesley, K. Busam, H. Gallardo, D. DeSantis, M. F. Brennan, et al. Classification of Clear-Cell Sarcoma as a Subtype of Melanoma by Genomic Profiling J. Clin. Oncol., May 1, 2003; 21(9): 1775 - 1781. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Zambrano, M. Reyes-Mugica, A. Franchi, and J. Rosai An Osteoclast-Rich Tumor of the Gastrointestinal Tract with Features Resembling Clear Cell Sarcoma of Soft Parts: Reports of 6 Casesof aGIST Simulator International Journal of Surgical Pathology, April 1, 2003; 11(2): 75 - 81. [Abstract] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
