Epithelioid Sarcoma

Advances in Anatomic Pathology - Tập 23 Số 1 - Trang 41-49 - 2016
Khin Thway1,2,3,4,5, Robin L. Jones1,2,3,4,5, Jonathan Noujaim1,2,3,4,5, Cyril Fisher1,2,3,4,5
1All figures can be viewed online in color at http://www.anatomicpathology.com.
2Reprints: Khin Thway, MD, FRCPath, Sarcoma Unit, The Royal Marsden NHS Foundation Trust, Royal Marsden Hospital, 203 Fulham Road, London SW3 6JJ, UK (e-mail: [email protected]).
3Sarcoma Unit, The Royal Marsden NHS Foundation Trust, Royal Marsden Hospital, London, UK
4Supported by the NIHR Royal Marsden/ICR Biomedical Research Centre.
5The authors have no funding or conflicts of interest to disclose.

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Tài liệu tham khảo

Fisher, 2006, Epithelioid sarcoma of Enzinger., Adv Anat Pathol, 13, 114, 10.1097/00125480-200605000-00002

Enzinger, 1970, Epithelioid sarcoma. A sarcoma simulating a granuloma or a carcinoma., Cancer, 26, 1029, 10.1002/1097-0142(197011)26:5<1029::AID-CNCR2820260510>3.0.CO;2-R

Chase, 1985, Epithelioid sarcoma. Diagnosis, prognostic indicators, and treatment., Am J Surg Pathol, 9, 241, 10.1097/00000478-198504000-00001

Berger, 1938, Synovial sarcomas in serous bursae and tendon sheaths., Am J Cancer, 34, 501

Laskowski, 1961, Sarcoma aponeuroticum., Noworotwy, 11, 61

Laskowski, 1971, Aponeurotic sarcoma., Polish Med J, 10, 12

Casanova, 2006, . Epithelioid sarcoma in children and adolescents: a report from the Italian Soft Tissue Sarcoma Committee., Cancer, 106, 708, 10.1002/cncr.21630

Jawad, 2009, . Prognostic factors for survival in patients with epithelioid sarcoma: 441 cases from the SEER database., Clin Orthop Relat Res, 467, 2939, 10.1007/s11999-009-0749-2

Prat, 1978, Epithelioid sarcoma: an analysis of 22 cases indicating the prognostic significance of vascular invasion and regional lymph node metastasis., Cancer, 41, 1472, 10.1002/1097-0142(197804)41:4<1472::AID-CNCR2820410436>3.0.CO;2-W

Bloustein, 1976, Epithelioid sarcoma: case report with ultrastructural review, histogenetic discussion, and chemotherapeutic data., Cancer, 38, 2390, 10.1002/1097-0142(197612)38:6<2390::AID-CNCR2820380627>3.0.CO;2-F

Puissegur-Lupo, 1985, Epithelioid sarcoma. Report of a case., Arch Dermatol, 121, 394, 10.1001/archderm.1985.01660030116032

Spillane, 2000, Epithelioid sarcoma: the clinicopathological complexities of this rare soft tissue sarcoma., Ann Surg Oncol, 7, 218, 10.1007/BF02523657

Raoux, 2009, . Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion., Am J Surg Pathol, 33, 954, 10.1097/PAS.0b013e31819b92d5

Lin, 2003, . Epithelioid sarcoma: an immunohistochemical analysis evaluating the utility of cytokeratin 56 in distinguishing superficial epithelioid sarcoma from spindled squamous cell carcinoma., J Cutan Pathol, 30, 114, 10.1034/j.1600-0560.2002.00040.x

Gambini, 2004, Proximal-type epithelioid sarcoma in a young girl., Pediatr Dermatol, 21, 117, 10.1111/j.0736-8046.2004.21205.x

Guillou, 1997, . Proximal-type epithelioid sarcoma, a distinctive aggressive neoplasm showing rhabdoid features. Clinicopathologic, immunohistochemical, and ultrastructural study of a series., Am J Surg Pathol, 21, 130, 10.1097/00000478-199702000-00002

Hasegawa, 2001, . Proximal-type epithelioid sarcoma: a clinicopathologic study of 20 cases., Mod Pathol, 14, 655, 10.1038/modpathol.3880368

Baratti, 2007, . Epithelioid sarcoma: prognostic factors and survival in a series of patients treated at a single institution., Ann Surg Oncol, 14, 3542, 10.1245/s10434-007-9628-9

Levy, 2014, . Epithelioid sarcoma: need for a multimodal approach to maximize the chances of curative conservative treatment., Ann Surg Oncol, 21, 269, 10.1245/s10434-013-3247-4

Wolf, 2008, . Epithelioid sarcoma: the University of Washington experience., Am J Surg, 196, 407, 10.1016/j.amjsurg.2007.07.029

Shimm, 1983, Radiation therapy of epithelioid sarcoma., Cancer, 52, 1022, 10.1002/1097-0142(19830915)52:6<1022::AID-CNCR2820520616>3.0.CO;2-I

Livi, 2003, . Treatment of epithelioid sarcoma at the Royal Marsden Hospital., Sarcoma, 7, 149, 10.1080/13577140310001644760

Callister, 2001, . Epithelioid sarcoma: results of conservative surgery and radiotherapy., Int J Radiat Oncol Biol Phys, 51, 384, 10.1016/S0360-3016(01)01646-7

Jones, 2012, . Role of palliative chemotherapy in advanced epithelioid sarcoma., Am J Clin Oncol, 35, 351, 10.1097/COC.0b013e3182118cf7

Tan, 2001, Spindle cell variant of epithelioid sarcoma: an easily misdiagnosed tumour., Australas J Dermatol, 42, 139, 10.1046/j.1440-0960.2001.00499.x

Miettinen, 1999, . Epithelioid sarcoma: an immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis., Hum Pathol, 30, 934, 10.1016/S0046-8177(99)90247-2

von Hochstetter, 1990, . Angiomatoid variant of epithelioid sarcoma. The value of immunohistochemistry in the differential diagnosis., Chir Organi Mov, 75, 158

von Hochstetter, 1991, . Epithelioid sarcoma mimicking angiosarcoma: the value of immunohistochemistry in the differential diagnosis., Virchows Arch A Pathol Anat Histopathol, 418, 271, 10.1007/BF01606067

Sur, 2001, Proximal epithelioid sarcomaa misnomer., Histopathology, 39, 641, 10.1046/j.1365-2559.2001.1311d.x

Smith, 1998, Epithelioid sarcoma: presence of vascular-endothelial cadherin and lack of epithelial cadherin., Histopathology, 33, 425, 10.1046/j.1365-2559.1998.00544.x

Humble, 2003, Cytokeratin 7 and 20 expression in epithelioid sarcoma., J Cutan Pathol, 30, 242, 10.1046/j.0303-6987.2003.047.x

Shiratsuchi, 2001, . Cytokeratin subunits of inclusion bodies in rhabdoid cells: immunohistochemical and clinicopathological study of malignant rhabdoid tumor and epithelioid sarcoma., Int J Surg Pathol, 9, 37, 10.1177/106689690100900107

Laskin, 2002, Epithelial-type and neural-type cadherin expression in malignant noncarcinomatous neoplasms with epithelioid features that involve the soft tissues., Arch Pathol Lab Med, 126, 425, 10.5858/2002-126-0425-ETANTC

Orrock, 2009, . INI1 and GLUT-1 expression in epithelioid sarcoma and its cutaneous neoplastic and nonneoplastic mimics., Am J Dermatopathol, 31, 152, 10.1097/DAD.0b013e31818a5c4f

Lin, 2005, . Expression profile and molecular genetic regulation of cyclin D1 expression in epithelioid sarcoma., Mod Pathol, 18, 705, 10.1038/modpathol.3800349

Miettinen, 2013, . ERG expression in epithelioid aarcoma: a diagnostic pitfall., Am J Surg Pathol, 37, 1580, 10.1097/PAS.0b013e31828de23a

Smith, 2005, . Evaluation of perineurial differentiation in epithelioid sarcoma., Histopathology, 47, 575, 10.1111/j.1365-2559.2005.02298.x

Hornick, 2009, Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma., Am J Surg Pathol, 33, 542, 10.1097/PAS.0b013e3181882c54

Kohashi, 2009, . Infrequent SMARCB1INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor., Hum Pathol, 40, 349, 10.1016/j.humpath.2008.08.007

Fisher, 1988, Epithelioid sarcoma: the spectrum of ultrastructural differentiation in seven immunohistochemically defined cases., Hum Pathol, 19, 265, 10.1016/S0046-8177(88)80519-7

Fisher, 1990, The value of electronmicroscopy and immunohistochemistry in the diagnosis of soft tissue sarcomas: a study of 200 cases., Histopathology, 16, 441, 10.1111/j.1365-2559.1990.tb01543.x

Fisher, 2004, Myofibroblastic malignancies., Adv Anat Pathol, 11, 190, 10.1097/01.pap.0000131773.16130.aa

Cordoba, 1994, . A new cytogenetic finding in an epithelioid sarcoma, t(8;22)(q22;q11)., Cancer Genet Cytogenet, 72, 151, 10.1016/0165-4608(94)90132-5

Dal Cin, 1999, Epithelioid sarcoma of the proximal type with complex karyotype including i(8q)., Cancer Genet Cytogenet, 114, 80

Iwasaki, 1996, . Epithelioid sarcoma with an 18q aberration., Cancer Genet Cytogenet, 91, 46, 10.1016/S0165-4608(95)00315-0

Molenaar, 1989, . Epithelioid sarcoma or malignant rhabdoid tumor of soft tissue Epithelioid immunophenotype and rhabdoid karyotype., Hum Pathol, 20, 347, 10.1016/0046-8177(89)90044-0

Sonobe, 1997, . Involvement of 8q, 22q, and monosomy 21 in an epithelioid sarcoma., Cancer Genet Cytogenet, 96, 178

Debiec-Rychter, 2000, Common chromosome aberrations in the proximal type of epithelioid sarcoma., Cancer Genet Cytogenet, 123, 133, 10.1016/S0165-4608(00)00320-4

de Vries, 1989, . Epithelioid sarcoma in children and adolescents: a report of four cases., J Pediatr Surg, 24, 186, 10.1016/S0022-3468(89)80246-5

Goto, 1999, . Brief report: neural differentiation of a novel cell line, YCUS-5, established from proximal-type epithelioid sarcoma of a child., Med Pediatr Oncol, 33, 137, 10.1002/(SICI)1096-911X(199908)33:2<137::AID-MPO18>3.0.CO;2-N

Lualdi, 2004, . Molecular cytogenetic characterization of proximal-type epithelioid sarcoma., Genes Chromosomes Cancer, 41, 283, 10.1002/gcc.20086

Quezado, 1998, . Allelic loss on chromosome 22q in epithelioid sarcomas., Hum Pathol, 29, 604, 10.1016/S0046-8177(98)80010-5

Modena, 2005, . SMARCB1INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas., Cancer Res, 65, 4012, 10.1158/0008-5472.CAN-04-3050

Rose, 1994, Epithelioid sarcoma arising in a patient with neurofibromatosis type 2., Histopathology, 25, 379, 10.1111/j.1365-2559.1994.tb01357.x

Kalpana, 1994, . Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5., Science, 266, 2002, 10.1126/science.7801128

Wang, 2014, Molecular pathways: SWISNF (BAF) complexes are frequently mutated in cancermechanisms and potential therapeutic insights., Clin Cancer Res, 20, 21, 10.1158/1078-0432.CCR-13-0280

Wohrle, 2013, . Fibroblast growth factor receptors as novel therapeutic targets in SNF5-deleted malignant rhabdoid tumors., PloS One, 8, e77652, 10.1371/journal.pone.0077652

Medjkane, 2004, . The tumor suppressor hSNF5INI1 modulates cell growth and actin cytoskeleton organization., Cancer Res, 64, 3406, 10.1158/0008-5472.CAN-03-3004

Mobley, 2010, . Loss of SMARCB1INI1 expression in poorly differentiated chordomas., Acta Neuropathol, 120, 745, 10.1007/s00401-010-0767-x

Hollmann, 2011, INI1-deficient tumors: diagnostic features and molecular genetics., Am J Surg Pathol, 35, e47, 10.1097/PAS.0b013e31822b325b

Agaimy, 2014, The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity., Adv Anat Pathol, 21, 394, 10.1097/PAP.0000000000000038

Jagani, 2010, . Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway., Nat Med, 16, 1429, 10.1038/nm.2251

Oruetxebarria, 2004, . P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells., J Biol Chem, 279, 3807, 10.1074/jbc.M309333200

Zhang, 2002, . Cell cycle arrest and repression of cyclin D1 transcription by INI1hSNF5., Mol Cell Biol, 22, 5975, 10.1128/MCB.22.16.5975-5988.2002

Noujaim, 2015, . Epithelioid sarcoma: opportunities for biology-driven targeted therapy., Front Oncol, 5, 186, 10.3389/fonc.2015.00186

Thway, 2015, . Foreign body granulomas induced by intramuscular leuprorelin acetate injection for prostate cancer: clinical mimics of soft tissue sarcoma., Case Rep Oncol Med, 2015, 947040

Wick, 1986, Epithelioid sarcoma and isolated necrobiotic granuloma: a comparative immunocytochemical study., J Cutan Pathol, 13, 253, 10.1111/j.1600-0560.1986.tb01520.x

Fanburg-Smith, 1998, . Extrarenal rhabdoid tumors of soft tissue: a clinicopathologic and immunohistochemical study of 18 cases., Ann Diagn Pathol, 2, 351, 10.1016/S1092-9134(98)80038-5

Kodet, 1991, . Rhabdoid tumors of soft tissues: a clinicopathologic study of 26 cases enrolled on the Intergroup Rhabdomyosarcoma Study., Hum Pathol, 22, 674, 10.1016/0046-8177(91)90289-2

Laskin, 1991, Epithelioid variant of malignant peripheral nerve sheath tumor (malignant epithelioid schwannoma)., Am J Surg Pathol, 15, 1136, 10.1097/00000478-199112000-00004

Ammerlaan, 2008, . Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome., Br J Cancer, 98, 474, 10.1038/sj.bjc.6604156

Gleason, 2007, Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases., Am J Surg Pathol, 31, 1813, 10.1097/PAS.0b013e31805f6775

Fisher, 2014, The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review., Histopathology, 64, 134, 10.1111/his.12269

Fisher, 1997, Parachordoma: a clinicopathologic and immunohistochemical study of four cases of an unusual soft tissue neoplasm., Ann Diagn Pathol, 1, 3, 10.1016/S1092-9134(97)80003-2

Folpe, 1999, . Parachordoma is immunohistochemically and cytogenetically distinct from axial chordoma and extraskeletal myxoid chondrosarcoma., Am J Surg Pathol, 23, 1059, 10.1097/00000478-199909000-00008

Rekhi, 2012, Histopathological, immunohistochemical and molecular spectrum of myoepithelial tumours of soft tissues., Virchows Arch, 461, 687, 10.1007/s00428-012-1335-7

Antonescu, 2010, . 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, 49, 1114, 10.1002/gcc.20819

Flucke, 2012, . EWSR1-ATF1 chimeric transcript in a myoepithelial tumor of soft tissue: a case report., Hum Pathol, 43, 764, 10.1016/j.humpath.2011.08.004

Flucke, 2011, . EWSR1 gene rearrangement occurs in a subset of cutaneous myoepithelial tumors: a study of 18 cases., Mod Pathol, 24, 1444, 10.1038/modpathol.2011.108

Kurzawa, 2013, . Primary myoepithelioma of bone: a report of 8 cases., Am J Surg Pathol, 37, 960, 10.1097/PAS.0b013e3182858a0e

Brandal, 2008, . Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma., Genes Chromosomes Cancer, 47, 558, 10.1002/gcc.20559

Brandal, 2009, . t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma., Genes Chromosomes Cancer, 48, 1051, 10.1002/gcc.20706

Thway, 2015, . Rhabdoid variant of myoepithelial carcinoma, with EWSR1 rearrangement: expanding the spectrum of EWSR1-rearranged myoepithelial tumors., Head Neck Pathol, 9, 273, 10.1007/s12105-014-0556-2

Thway, 2014, Myoepithelial tumor of soft tissue: histology and genetics of an evolving entity., Adv Anat Pathol, 21, 411, 10.1097/PAP.0000000000000039

Puls, 2014, . Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene., Histopathology, 65, 917, 10.1111/his.12517

Huang, 2015, . Novel FUS-KLF17 and EWSR1-KLF17 fusions in myoepithelial tumors., Genes Chromosomes Cancer, 54, 267, 10.1002/gcc.22240

Attwooll, 1999, . Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma., Oncogene, 18, 7599, 10.1038/sj.onc.1203156

Clark, 1996, . Fusion of the EWS gene to CHN, a member of the steroidthyroid receptor gene superfamily, in a human myxoid chondrosarcoma., Oncogene, 12, 229

Panagopoulos, 1999, . Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11)., Oncogene, 18, 7594, 10.1038/sj.onc.1203155

Sciot, 1995, . t(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: evaluation of three cases., Mod Pathol, 8, 765

Sjogren, 1999, . Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma., Cancer Res, 59, 5064

Stenman, 1995, . Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma., Int J Cancer, 62, 398, 10.1002/ijc.2910620407

Oakley, 2008, Brachyury, SOX-9, and podoplanin, new markers in the skull base chordoma vs chondrosarcoma differential: a tissue microarray-based comparative analysis., Mod Pathol, 21, 1461, 10.1038/modpathol.2008.144

Tirabosco, 2008, . Brachyury expression in extra-axial skeletal and soft tissue chordomas: a marker that distinguishes chordoma from mixed tumormyoepitheliomaparachordoma in soft tissue., Am J Surg Pathol, 32, 572, 10.1097/PAS.0b013e31815b693a

Suchak, 2011, . Primary cutaneous epithelioid angiosarcoma: a clinicopathologic study of 13 cases of a rare neoplasm occurring outside the setting of conventional angiosarcomas and with predilection for the limbs., Am J Surg Pathol, 35, 60, 10.1097/PAS.0b013e3181fee872

Wick, 1987, Epithelioid sarcoma and epithelioid hemangioendothelioma: an immunocytochemical and lectin-histochemical comparison., Virchows Arch A Pathol Anat Histopathol, 410, 309, 10.1007/BF00711287

Errani, 2011, . A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites., Genes Chromosomes Cancer, 50, 644, 10.1002/gcc.20886

Antonescu, 2013, . Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma., Genes Chromosomes Cancer, 52, 775, 10.1002/gcc.22073

Hornick, 2011, Pseudomyogenic hemangioendothelioma: a distinctive, often multicentric tumor with indolent behavior., Am J Surg Pathol, 35, 190, 10.1097/PAS.0b013e3181ff0901

Billings, 2011, Epithelioid Sarcoma-like hemangioendothelioma (pseudomyogenic hemangioendothelioma)., Am J Surg Pathol, 35, 1088, 10.1097/PAS.0b013e31821caf1c

Billings, 2003, Epithelioid sarcoma-like hemangioendothelioma., Am J Surg Pathol, 27, 48, 10.1097/00000478-200301000-00006

Mirra, 1992, . The fibroma-like variant of epithelioid sarcoma. A fibrohistiocyticmyoid cell lesion often confused with benign and malignant spindle cell tumors., Cancer, 69, 1382, 10.1002/1097-0142(19920315)69:6<1382::AID-CNCR2820690614>3.0.CO;2-Y

Amary, 2013, . Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma: characterization of five cases., Skeletal Radiol, 42, 947, 10.1007/s00256-013-1577-8

Walther, 2014, . A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic hemangioendothelioma., J Pathol, 232, 534, 10.1002/path.4322

Fisher, 1998, Synovial sarcoma., Ann Diagn Pathol, 2, 401, 10.1016/S1092-9134(98)80042-7

van de Rijn, 1999, . Poorly differentiated synovial sarcoma: an analysis of clinical, pathologic, and molecular genetic features., Am J Surg Pathol, 23, 106, 10.1097/00000478-199901000-00012

Thway, 2014, Synovial sarcoma: defining features and diagnostic evolution., Ann Diagn Pathol, 18, 369, 10.1016/j.anndiagpath.2014.09.002

Machen, 1999, Synovial sarcoma of the extremities: a clinicopathologic study of 34 cases, including semi-quantitative analysis of spindled, epithelial, and poorly differentiated areas., Am J Surg Pathol, 23, 268, 10.1097/00000478-199903000-00004

Knight, 1992, . Cytogenetic and molecular analysis of synovial sarcoma., Int J Oncol, 1, 747, 10.3892/ijo.1.7.747

Smith, 1987, . A consistent chromosome translocation in synovial sarcoma., Cancer Genet Cytogenet, 26, 179, 10.1016/0165-4608(87)90147-6

Banerjee, 2008, Divergent differentiation in malignant melanomas: a review., Histopathology, 52, 119, 10.1111/j.1365-2559.2007.02823.x

Banerjee, 2000, Morphological and immunophenotypic variations in malignant melanoma., Histopathology, 36, 387, 10.1046/j.1365-2559.2000.00894.x

Shenjere, 2014, . Melanoma with rhabdomyosarcomatous differentiation: two further cases of a rare pathologic pitfall., Int J Surg Pathol, 22, 512, 10.1177/1066896914531817