Ancillary molecular analysis in the diagnosis of soft tissue tumours: Reassessment of its utility at a specialist centre

Journal of Clinical Pathology

Volumn 69, Issue 6, 2016, Pages 505-510

  Vroobel, Katherine ^a   Gonzalez, David ^b   Wren, Dorte ^b   Thompson, Lisa ^b   Swansbury, John ^b   Fisher, Cyril ^a   Thway, Khin ^a  

^a ROYAL MARSDEN HOSPITAL   (United Kingdom)

^b ROYAL MARSDEN HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KIT PROTEIN; PDGFRA PROTEIN; PROTEIN; PROTEIN MDM2; UNCLASSIFIED DRUG; MDM2 PROTEIN, HUMAN; PARAFFIN;

ARTICLE; CLEAR CELL CARCINOMA; COMPARATIVE STUDY; CONTROLLED STUDY; DEDIFFERENTIATED LIPOSARCOMA; DESMOPLASTIC SMALL ROUND CELL TUMOR; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EXON; FIBROSARCOMA; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; GENE REARRANGEMENT; HISTOLOGY; HUMAN; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MYXOSARCOMA; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHABDOMYOSARCOMA; SOFT TISSUE TUMOR; SYNOVIAL SARCOMA; TUMOR DIAGNOSIS; WORKLOAD; DNA MUTATIONAL ANALYSIS; GENETICS; HOSPITAL MANAGEMENT; LIPOSARCOMA; METABOLISM; PROCEDURES; SOFT TISSUE NEOPLASMS;

ANCILLARY SERVICES, HOSPITAL; DNA MUTATIONAL ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIPOSARCOMA; PARAFFIN EMBEDDING; PROTO-ONCOGENE PROTEINS C-MDM2; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SOFT TISSUE NEOPLASMS;

EID: 84965070321     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2015-203380     Document Type: Article

References (24)

1. Thway K, Rockcliffe S, Gonzalez D, et al. Utility of sarcoma-specific fusion gene analysis in paraffin-embedded material for routine diagnosis at a specialist centre. J Clin Pathol 2010;63:508-12.
2. Thway K, Nicholson AG, Lawson K, et al. Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: A new tumor entity. Am J Surg Pathol 2011;35:1722-32.
3. Fisher C. Dataset for histopathology reporting of soft tissue sarcomas. Royal College of Pathologists, 2014. http://www.rcpath.org/Resources/RCPath/Migrated% 20Resources/Documents/G/G094-DatasetSoftTissue-Mar14.pdf
4. Thway K, Fisher C. Histopathological diagnostic discrepancies in soft tissue tumours referred to a specialist centre. Sarcoma 2009;2009:741975.
5. Thway K, Wang J, Mubako T, et al. Histopathological diagnostic discrepancies in soft tissue tumours referred to a specialist centre: reassessment in the era of ancillary molecular diagnosis. Sarcoma 2014;2014:686902.
6. Neuville A, Ranchère-Vince D, Dei Tos AP, et al. Impact of molecular analysis on the final sarcoma diagnosis: A study on 763 cases collected during a European epidemiological study. Am J Surg Pathol 2013;37:1259-68.
7. Thway K, Wang J, Swansbury J, et al. Fluorescence in situ hybridization for MDM2 amplification as a routine ancillary diagnostic tool for suspected well-differentiated and dedifferentiated liposarcomas: experience at a tertiary center. Sarcoma 2015;2015:812089.
8. Thway K, Gonzalez D, Wren D, et al. Angiomatoid fibrous histiocytoma: comparison of fluorescence in situ hybridization and reverse transcription polymerase chain reaction as adjunct diagnostic modalities. Ann Diagn Pathol 2015;19:137-42.
9. Thway K, Fisher C. Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: The current status. Am J Surg Pathol 2012;36:e1-11.
10. Stockman DL, Miettinen M, Suster S, et al. Malignant gastrointestinal neuroectodermal tumor: clinicopathologic, immunohistochemical, ultrastructural, and molecular analysis of 16 cases with a reappraisal of clear cell sarcoma-like tumors of the gastrointestinal tract. Am J Surg Pathol 2012;36:857-68.
11. Antonescu CR, Dal Cin P, Nafa K, et al. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer 2007;46:1051-60.
12. Antonescu CR, Katabi N, Zhang L, et al. EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland. Genes Chromosomes Cancer 2011;50:559-70.
13. Fisher C. The diversity of soft tissue tumours with EWSR1 gene rearrangements: A review. Histopathology 2014;64:134-50.
14. Ordóñez JL, Osuna D, Herrero D, et al. Advances in Ewing's sarcoma research: where are we now and what lies ahead? Cancer Res 2009;69:7140-50.
15. Rekhi B, Sable M, Jambhekar NA. Histopathological, immunohistochemical and molecular spectrum of myoepithelial tumours of soft tissues. Virchows Arch 2012;461:687-97.
16. Antonescu CR, Zhang L, Chang NE, et al. EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene. Genes Chromosomes Cancer 2010;49:1114-24.
17. Flucke U, Mentzel T, Verdijk MA, et al. EWSR1-ATF1 chimeric transcript in a myoepithelial tumor of soft tissue: A case report. Hum Pathol 2012; 43:764-8.
18. 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;24:1444-50.
19. Kurzawa P, Kattapuram S, Hornicek FJ, et al. Primary myoepithelioma of bone: A report of 8 cases. Am J Surg Pathol 2013;37:960-8.
20. Brandal P, Panagopoulos I, Bjerkehagen B, et al. Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma. Genes Chromosomes Cancer 2008;47:558-64.
21. Brandal P, Panagopoulos I, Bjerkehagen B, et al. t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma. Genes Chromosomes Cancer 2009;48:1051-6.
22. Thway K, Fisher C. Myoepithelial tumor of soft tissue: histology and genetics of an evolving entity. Adv Anat Pathol 2014;21:411-19.
23. Puls F, Arbajian E, Magnusson L, et al. Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene. Histopathology 2014;65:917-22.
24. Huang SC, Chen HW, Zhang L, et al. Novel FUS-KLF17 and EWSR1-KLF17 fusions in myoepithelial tumors. Genes Chromosomes Cancer 2015;54:267-75.