Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-ndw9j Total loading time: 0 Render date: 2024-11-17T16:20:04.931Z Has data issue: false hasContentIssue false

Chapter 5 - Soft Tissue Sarcomas with Epithelioid Morphology

Published online by Cambridge University Press:  10 May 2019

Angelo Paolo Dei Tos
Affiliation:
Università degli Studi di Padova, Italy
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Soft Tissue Sarcomas
A Pattern-Based Approach to Diagnosis
, pp. 219 - 314
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Primary Sources

Agaimy, A. The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity. Adv Anat Pathol. 2014;21:394410.Google Scholar
Arber, DA, Kandalaft, PL, Mehta, P, Battifora, H. Vimentin-negative epithelioid sarcoma. The value of an immunohistochemical panel that includes CD34. Am J Surg Pathol. 1993;17:302–7.Google Scholar
Bos, GD, Pritchard, DJ, Reiman, HM, et al. Epithelioid sarcoma. An analysis of fifty-one cases. J Bone Joint Surg Am. 1988;70:862–70.CrossRefGoogle ScholarPubMed
Chase, DR, Enzinger, FM. Epithelioid sarcoma. Diagnosis, prognostic indicators and treatment. Am J Surg Pathol. 1985:9:241–63.Google Scholar
Chase, DR, Enzinger, FM, Weiss, SW, Langloss, JM. Keratin in epithelioid sarcoma. An immunohistochemical study. Am J Surg Pathol. 1984;8:435–41.Google Scholar
Enzinger, FM. Epithelioid sarcoma. A sarcoma simulating a granuloma or a carcinoma. Cancer. 1970;26:1029–41.Google Scholar
Evans, HL, Baer, SC. Epithelioid sarcoma: a clinicopathologic and prognostic study of 26 cases. Semin Diagn Pathol. 1993;10:286–91.Google Scholar
Guillou, L, Wadden, C, Coindre, JM, Krausz, T, Fletcher, CD. “Proximal-type” epithelioid sarcoma, a distinctive aggressive neoplasm showing rhabdoid features. Clinicopathologic, immunohistochemical, and ultrastructural study of a series. Am J Surg Pathol. 1997;21:130–46.CrossRefGoogle ScholarPubMed
Halling, AC, Wollan, PC, Pritchard, DJ, Vlasak, R, Nascimento, AG. Epithelioid sarcoma: a clinicopathologic review of 55 cases. Mayo Clin Proc. 1996:71:636–42.Google Scholar
Hollmann, TJ, Hornick, JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol. 2011;35:4763.Google Scholar
Hornick, JL, Dal Cin, P, Fletcher, CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol. 2009;33:542–50.CrossRefGoogle ScholarPubMed
Italiano, A. Role of the EZH2 histone methyltransferase as a therapeutic target in cancer. Pharmacol Ther. 2016;165:2631.Google Scholar
Kodet, R, Smelhaus, V, Newton, WA, et al. Epithelioid sarcoma in childhood: an immunohistochemical, electron microscopic, and clinicopathologic study of 11 cases under 15 years of age and review of the literature. Pediatr Pathol. 1994;14:433–51.CrossRefGoogle ScholarPubMed
Kohashi, K, Izumi, T, Oda, Y, et al. Infrequent SMARCB1/ INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor. Hum Pathol. 2009;40:349–55.CrossRefGoogle ScholarPubMed
Modena, P, Luaki, E, Facchinetti, F, et al. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res. 2005;65:4012–19.CrossRefGoogle ScholarPubMed
Miettinen, M, Fanburg-Smith, JC, Virolainen, M, Shmookler, BM, Fetsch, JF. Epithelioid sarcoma: an immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis. Hum Pathol. 1999;30:934–42.Google Scholar
Miettinen, M, Wang, Z, Sarlomo-Rikala, M, et al. ERG expression in epithelioid sarcoma: a diagnostic pitfall. Am J Surg Pathol. 2013;37:1580–5.Google Scholar
Wick, MR, Manivel, JC. Epithelioid sarcoma and isolated necrobiotic granuloma: a comparative immunocytochemical study. J Cutan Pathol. 1986;13:253–60.Google Scholar

Secondary Sources

Biegel, JA, Tan, L, Zhang, F, et al. Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res. 2002;8:3461–7.Google Scholar
Bittesini, L, Dei Tos, AP, Fletcher, CDM. Malignant melanoma showing rhabdoid differentiation. Further evidence of a non- specific histologic pattern. Histopathology. 1992;20:167–70.CrossRefGoogle Scholar
Fanburg-Smith, JC, Hengge, M, Hengge, UR, Smith, JS Jr, Miettinen, M. Extrarenal rhabdoid tumors of soft tissue: a clinicopathologic and immunohistochemical study of 18 cases. Ann Diagn Pathol. 1998;2:351–62.Google Scholar
Huang, SC, Zhang, L, Sung, YS, et al. Secondary EWSR1 gene abnormalities in SMARCB1-deficient tumors with 22q11-12 regional deletions: potential pitfalls in interpreting EWSR1 FISH results. Genes Chromosomes Cancer. 2016;55:767–76.CrossRefGoogle ScholarPubMed
Judkins, AR. Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology. Adv Anat Pathol. 2007;14:335–9.Google Scholar
Le Loarer, F, Watson, S, Pierron, G, et al. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet. 2015;47:1200–5.CrossRefGoogle ScholarPubMed
Margol, AS, Judkins, AR. Pathology and diagnosis of SMARCB1-deficient tumors. Cancer Genetics. 2014;207:358–64.Google Scholar
Oda, Y, Tsuneyoshi, M. Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft-tissue sarcomas with rhabdoid features. Pathol Int. 2006;56:287–95.Google Scholar
Parham, DM, Weeks, DA, Beckwith, JB. The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. Am J Surg Pathol. 1994;18:1010–29.Google Scholar
Sauter, JL, Graham, RP, Larsen, BT, et al. SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior. Mod Pathol. 2017;30:1422–32.Google Scholar
Schaefer, IM, Agaimy, A, Fletcher, CD, Hornick, JL. Claudin-4 expression distinguishes SWI/SNF complex-deficient undifferentiated carcinomas from sarcomas. Mod Pathol. 2017;30:539–48.CrossRefGoogle ScholarPubMed
Sigauke, E, Rakheja, D, Maddox, DL, et al. Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol. 2006;19:717–25.Google Scholar
Sotelo-Avila, C, Gonzalez-Crussi, F, DeMello, D, et al. Renal and extrarenal rhabdoid tumors in children: a clinicopathologic study of 14 patients. Semin Diagn Pathol. 1986;3:151–63.Google Scholar
Wick, MR, Ritter, JH, Dehner, LP. Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. Semin Diagnostic Pathol. 1995;12:233–48.Google Scholar
Agaram, NP, Chen, HW, Zhang, L, et al. EWSR1-PBX3: a novel gene fusion in myoepithelial tumors. Genes Chromosomes Cancer. 2015;54:6371.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Antonescu, CR, Zhang, L, Shao, SY, et al. Frequent PLAG1 gene rearrangements in skin and soft tissue myoepithelioma with ductal differentiation. Genes Chromosomes Cancer. 2013;52:675–82.Google Scholar
Attwooll, C, Tariq, M, Harris, M, et al. 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. 1999;18:7599–601.Google Scholar
Fisher, C. Parachordoma exists–but what is it? Adv Anat Pathol. 2000;7:141–8.Google Scholar
Gleason, BC, Fletcher, CD. Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases. Am J Surg Pathol. 2007;31:1813–24.Google Scholar
Hallor, KH, Teixeira, MR, Fletcher, CD, et al. Heterogeneous genetic profiles in soft tissue myoepitheliomas. Mod Pathol. 2008;21:1311–19.Google Scholar
Hornick, JL, Fletcher, CD. Myoepithelial tumors of soft tissue: a clinicopathologic and immunohistochemical study of 101 cases with evaluation of prognostic parameters. Am J Surg Pathol. 2003;27:1183–96.Google Scholar
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.Google Scholar
Kilpatrick, SE, Hitchcock, MG, Kraus, MD, Calonje, E, Fletcher, CD. Mixed tumors and myoepitheliomas of soft tissue: a clinicopathologic study of 19 cases with a unifying concept. Am J Surg Pathol. 1997;21:1322.Google Scholar
Leduc, C, Zhang, L, Öz, B, et al. Thoracic myoepithelial tumors: a pathologic and molecular study of 8 cases with review of the literature. Am J Surg Pathol. 2016;40:212–23.Google Scholar
Le Loarer, F, Zhang, L, Fletcher, CD, et al. Consistent SMARCB1 homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material. Genes Chromosomes Cancer. 2014;53:475–86.Google Scholar
Puls, F, Arbajian, E Magnusson, L, et al. Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene. Histopathology. 2014;65:917–22.CrossRefGoogle ScholarPubMed
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;8:765–8.Google Scholar
Thway, K, Fisher, C. Myoepithelial tumor of soft tissue: histology and genetics of an evolving entity. Adv Anat Pathol. 2014;21:411–19.Google Scholar
Tirabosco, R, Mangham, DC, Rosenberg, AE, et al. Brachyury expression in extra-axial skeletal and soft tissue chordomas: a marker that distinguishes chordoma from mixed tumor/myoepithelioma/parachordoma in soft tissue. Am J Surg Pathol. 2008;32:572–80.CrossRefGoogle ScholarPubMed
Urbini, M, Astolfi, A, Indio, V, et al. Identification of SRF-E2F1 fusion transcript in EWSR-negative myoepithelioma of the soft tissue. Oncotarget. 2017;8:60036–45.Google Scholar
Billings, SD, Folpe, AL, Weiss, SW. Epithelioid sarcoma-like hemangioendothelioma. Am J Surg Pathol. 2003;27:4857.Google Scholar
Hornick, JL, Fletcher, CD. Pseudomyogenic hemangioendothelioma: a distinctive, often multicentric tumor with indolent behavior. Am J Surg Pathol. 2011;35:190201.Google Scholar
Hung, YP, Fletcher, CD, Hornick, JL. FOSB is a useful diagnostic marker for pseudomyogenic hemangioendothelioma. Am J Surg Pathol. 2017;41:596606.Google Scholar
Inyang, A, Mertens, F, Puls, F, et al. Primary pseudomyogenic hemangioendothelioma of bone. Am J Surg Pathol. 2016;40:587–98.CrossRefGoogle ScholarPubMed
Mirra, JM, Kessler, S, Bhuta, S, Eckardt, J. The fibroma-like variant of epithelioid sarcoma. A fibrohistiocytic/myoid cell lesion often confused with benign and malignant spindle cell tumors. Cancer. 1992;69:1382–95.Google Scholar
Righi, A, Gambarotti, M, Picci, P, Dei Tos, AP, Vanel, D. Primary pseudomyogenic haemangioendothelioma of bone: report of two cases. Skel Radiol. 2015;44:727–31.CrossRefGoogle ScholarPubMed
Trombetta, D, Magnusson, L, von Steyern, FV, et al. Translocation t(7;19)(q22;q13): a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma? Cancer Genetics. 2011;204:211–15.Google Scholar
Walther, C, Tayebwa, J, Lilljebjorn, H, et al. A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma. J Pathol. 2014;23:534–40.Google Scholar
Anderson, T, Zhang, L, Hameed, M, et al. Thoracic epithelioid malignant vascular tumors: a clinicopathologic study of 52 cases with emphasis on pathologic grading and molecular studies of WWTR1-CAMTA1 fusions. Am J Surg Pathol. 2015;39:132–9.Google Scholar
Antonescu, CR, Chen, HW, Zhang, L, et al. ZFP36-FOSB fusion defines a subset of epithelioid hemangioma with atypical features. Genes Chromosomes Cancer. 2014;53:951–9.Google Scholar
Antonescu, CR, Le Loarer, F, Mosquera, JM, et al. Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer. 2013;52:775–84.Google Scholar
Bhagavan, BS, Dorfman, HD, Murthy, MS, Eggleston, JC. Intravascular bronchiolo-alveolar tumor (IVBAT): A low-grade sclerosing epithelioid angiosarcoma of lung. Am J Surg Pathol. 1982;6:4152.Google Scholar
Dietze, O, Davies, SE, Williams, R, Portmann, B. Malignant epithelioid haemangioendothelioma of the liver: a clinicopathological and histochemical study of 12 cases. Histopathology. 1989;15:225–37.Google Scholar
Doyle, LA, Fletcher, CD, Hornick, JL. Nuclear expression of CAMTA1 distinguishes epithelioid hemangioendothelioma from histologic mimics. Am J Surg Pathol. 2016;40:94102Google Scholar
Errani, C, Zhang, L, Sung, YS, et al. A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. Genes Chromosomes Cancer. 2011;50:644–53.Google Scholar
Gomez-Arellano, LI, Ferrari-Carballo, T, Dominguez-Malagon, HR. Multicentric epithelioid hemangioendothelioma of bone. Report of a case with radiologic-pathologic correlation. Ann Diagn Pathol. 2012;16:43–7.Google Scholar
Huang, SC, Zhang, L, Sung, YS, et al. Frequent FOS gene rearrangements in epithelioid hemangioma: a molecular study of 58 cases with morphologic reappraisal. Am J Surg Pathol. 2015;39:1313–21.CrossRefGoogle ScholarPubMed
Mendlick, MR, 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: 684–7.CrossRefGoogle Scholar
Mentzel, T, Beham, A, Calonje, E, Katenkamp, D, Fletcher, CD. Epithelioid hemangioendothelioma of skin and soft tissues: clinicopathologic and immunohistochemical study of 30 cases. Am J Surg Pathol. 1997;21:363–74.Google Scholar
Miettinen, M, Wang, ZF, Paetau, A, et al. ERG transcription factor as an immunohistochemical marker for vascular endothelial tumors and prostatic carcinoma. Am J Surg Pathol. 2011;35:432–41.CrossRefGoogle ScholarPubMed
Rossi, S, Orvieto, E, Furlanetto, A, et al. Utility of the immunohistochemical detection of FLI-1 expression in round cell and vascular neoplasm using a monoclonal antibody. Mod Pathol. 2004;17:547–52.CrossRefGoogle ScholarPubMed
Weiss, SW, Enzinger, FM. Epithelioid hemangioendothelioma: a vascular tumor often mistaken for a carcinoma. Cancer. 1982;50:970–81.Google Scholar
Weiss, SW, Ishak, KG, Dail, DH, Sweet, DE, Enzinger, FM. Epithelioid hemangioendothelioma and related lesions. Semin Diagn Pathol. 1986;3:259–87.Google ScholarPubMed
Eusebi, V, Carcangiu, ML, Dina, R, Rosai, J. Keratin-positive epithelioid angiosarcoma of thyroid. A report of four cases. Am J Surg Pathol. 1990;14:737–47.Google Scholar
Fletcher, CD, Beham, A, Bekir, S, Clarke, AM, Marley, NJ. Epithelioid angiosarcoma of deep soft tissue: a distinctive tumor readily mistaken for an epithelial neoplasm. Am J Surg Pathol. 1991;15:915–24.Google Scholar
Meis-Kindblom, JM, Kindblom, LG. Angiosarcoma of soft tissue: a study of 80 cases. Am J Surg Pathol. 1998;22:683–97.Google Scholar
Rosai, J, Sumner, HW, Kostianovsky, M, Perez-Mesa, C. Angiosarcoma of the skin. A clinicopathologic and fine structural study. Hum Pathol. 1976;7:83109.Google Scholar
Rossi, S, Fletcher, CD. Angiosarcoma arising in hemangioma/vascular malformation: report of four cases and review of the literature. Am J Surg Pathol. 2002;26:1319–29.Google Scholar
Shon, W, Sukov, WR, Jenkins, SM, Folpe, AL. MYC amplification and overexpression in primary cutaneous angiosarcoma: a fluorescence in-situ hybridization and immunohistochemical study. Mod Pathol. 2014;27:509–15.Google Scholar
Stacchiotti, S, Palassini, E, Sanfilippo, R, et al. Gemcitabine in advanced angiosarcoma: a retrospective case series analysis from the Italian Rare Cancer Network. Ann Oncol. 2012;23:501–8.Google Scholar
Allison, KH, Patel, RM, Goldblum, JR, Rubin, BP. Superficial malignant peripheral nerve sheath tumor: a rare and challenging diagnosis. Am J Clin Pathol. 2005;124:685–92.CrossRefGoogle ScholarPubMed
Carter, JM, O’Hara, C, Dundas, G, et al. Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with “neuroblastoma-like” schwannomatosis and a novel germline SMARCB1 mutation. Am J Surg Pathol. 2012;36:154–60.Google Scholar
DiCarlo, EF, Woodruff, JM, Bansal, M, Erlandson, RA. The purely epithelioid malignant peripheral nerve sheath tumor. Am J Surg Pathol. 1986;10:478–90.Google Scholar
Jo, VY, Fletcher, CD. Epithelioid malignant peripheral nerve sheath tumor: clinicopathologic analysis of 63 cases. Am J Surg Pathol. 2015;39:673–82.Google Scholar
Jo, VY, Fletcher, CDM. SMARCB1/INI1 loss in epithelioid schwannoma: a clinicopathologic and immunohistochemical study of 65 cases. Am J Surg Pathol. 2017;41:1013–22.Google Scholar
Laskin, WB, Weiss, SW, Bratthauer, GL. Epithelioid variant of malignant peripheral nerve sheath tumor (malignant epithelioid schwannoma). Am J Surg Pathol. 1991;15:1136–45.Google Scholar
Lodding, P, Kindblom, LG, Angervall, L. Epithelioid malignant schwannoma. A study of 14 cases. Virchows Archiv. 1986;409:433–51.Google Scholar
McCormack, LJ, Hazard, JB, Dickson, JA. Malignant epithelioid neurilemoma (schwannoma). Cancer. 1954;7:725–8.Google Scholar
McMenamin, ME, Fletcher, CD. Expanding the spectrum of malignant change in schwannomas: epithelioid malignant change, epithelioid malignant peripheral nerve sheath tumor, and epithelioid angiosarcoma: a study of 17 cases. Am J Surg Pathol. 2001;25:1325.CrossRefGoogle ScholarPubMed
Yamamoto, T. Epithelioid malignant schwannoma of the superficial soft tissues vs. metastatic amelanotic melanoma. J Cutan Pathol. 2002;29:569.Google Scholar
Yousem, SA, Colby, TV, Urich, H. Malignant epithelioid schwannoma arising in a benign schwannoma. A case report. Cancer. 1985;55:2799–803.3.0.CO;2-3>CrossRefGoogle Scholar
Alexiev, BA, Chou, PM, Jennings, LJ. Pathology of melanotic schwannoma. Arch Pathol Lab Med. 2018 Jan 26. [Epub ahead of print]Google Scholar
Antonescu, CR, Nafa, K, Segal, NH, Dal Cin, P, Ladanyi, M. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma – association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res. 2006;15:5356–62.Google Scholar
Antonescu, CR, Tschernyavsky, SJ, Woodruff, JM, 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;4:4452.Google Scholar
Carney, JA. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome. Am J Surg Pathol. 1990;14:206–22.Google Scholar
Chung, EB, Enzinger, FM. Malignant melanoma of soft parts. A reassessment of clear cell sarcoma. Am J Surg Pathol. 1983;7:405–13.Google Scholar
Dim, DC, Cooley, LD, Miranda, RN. Clear cell sarcoma of tendons and aponeuroses: a review. Arch Pathol Lab Med. 2007;131:152–6.Google Scholar
Enzinger, FM. Clear-cell sarcoma of tendons and aponeuroses. An analysis of 21 cases. Cancer. 1965;18: 1163–74.Google Scholar
Graadt van Roggen, JF, Mooi, WJ, Hogendoorn, PC. Clear cell sarcoma of tendons and aponeuroses (malignant melanoma of soft parts) and cutaneous melanoma: exploring the histogenetic relationship between these two clinicopathological entities. J Pathol. 1998;186:37.Google Scholar
Granter, SR, Weilbaecher, KN, Quigley, C, Fletcher, CD, Fisher, DE. Clear cell sarcoma shows immunoreactivity for microphthalmia transcription factor: further evidence for melanocytic differentiation. Mod Pathol. 2001;14:69.Google Scholar
Kawai, A, Hosono, A, Nakayama, R, et al. Japanese Musculoskeletal Oncology G: clear cell sarcoma of tendons and aponeuroses: a study of 75 patients. Cancer. 2007;109:109–16.Google Scholar
Kosemehmetoglu, K, Folpe, AL. Clear cell sarcoma of tendons and aponeuroses, and osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: a review and update. J Clin Pathol. 2010;63:416–23.Google Scholar
Panagopoulos, I, Mertens, F, Isaksson, M, Mandahl, N. Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses). Cancer Genet Cytogenet. 2005;156:74–6.Google Scholar
Sara, AS, Evans, HL, Benjamin, RS. Malignant melanoma of soft parts (clear cell sarcoma). A study of 17 cases, with emphasis on prognostic factors. Cancer. 1990;65: 367–74.Google Scholar
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.Google Scholar
Torres-Mora, J, Dry, S, Li, X, et al. Malignant melanotic schwannian tumor: a clinicopathologic, immunohistochemical, and gene expression profiling study of 40 cases, with a proposal for the reclassification of “melanotic schwannoma.” Am J Surg Pathol. 2014;38:94105.Google Scholar
Wang, J, Thway, K. Clear cell sarcoma-like tumor of the gastrointestinal tract: an evolving entity. Arch Pathol Lab Med. 2015;139:407–12.Google Scholar
Zambrano, E, Reyes-Mugica, M, Franchi, A, Rosai, J. An osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: reports of 6 cases of a GIST simulator. Int J Surg Pathol. 2003;11:7581.Google Scholar
Antonescu, CR, Rosenblum, MK, Pereira, P, Nascimento, AG, Woodruff, JM. Sclerosing epithelioid fibrosarcoma: a study of 16 cases and confirmation of a clinicopathologically distinct tumor. Am J Surg Pathol. 2001;25:699709.Google Scholar
Arbajian, E, Puls, F, Magnusson, L, et al. Recurrent EWSR1-CREB3L1 gene fusions in sclerosing epithelioid fibrosarcoma. Am J Surg Pathol. 2014;38:801–8.Google Scholar
Argani, P, Lewin, JR, Edmonds, P, et al. Primary renal sclerosing epithelioid fibrosarcoma: report of 2 cases with EWSR1-CREB3L1 gene fusion. Am J Surg Pathol. 2015;39:365–73.Google Scholar
Doyle, LA, Hornick, JL. EWSR1 rearrangements in sclerosing epithelioid fibrosarcoma. Am J Surg Pathol. 2013;37:1630–1.CrossRefGoogle ScholarPubMed
Doyle, LA, Wang, WL, Dal Cin, P, et al. MUC4 is a sensitive and extremely useful marker for sclerosing epithelioid fibrosarcoma: association with FUS gene rearrangement. Am J Surg Pathol. 2012;36:1444–51.Google Scholar
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;31:1387–402.Google Scholar
Meis-Kindblom, JM, Kindblom, LG, Enzinger, FM. Sclerosing epithelioid fibrosarcoma. A variant of fibrosarcoma simulating carcinoma. Am J Surg Pathol. 1995;19:979–93.Google Scholar
Stockman, DL, Ali, SM, He, J, Ross, JS, Meis, JM. Sclerosing epithelioid fibrosarcoma presenting as intraabdominal sarcomatosis with a novel EWSR1-CREB3L1 gene fusion. Hum Pathol. 2014;45:2173–8.Google Scholar
Wang, WL, Evans, HL, Meis, JM, et al. FUS rearrangements are rare in ‘pure’ sclerosing epithelioid fibrosarcoma. Mod Pathol. 2012;25:846–53.Google Scholar
Argani, P, Antonescu, CR, Illei, PB, et al. Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. Am J Surg Pathol. 2001;159:179–92.Google Scholar
Argani, P, Lal, P, Hutchinson, B, et al. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol. 2003;27:750–61.Google Scholar
Aulmann, S, Longerich, T, Schirmacher, P, Mechtersheimer, G, Penzel, R. Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas. Histopathology. 2007;50:881–6.Google Scholar
Christopherson, WM, Foote, FW Jr, Stewart, FW. Alveolar soft-part sarcomas: structurally characteristic tumors of uncertain histogenesis. Cancer. 1952;5:100–11.Google Scholar
Fanburg-Smith, JC, Miettinen, M, Folpe, AL, Weiss, SW, Childers, EL. Lingual alveolar soft part sarcoma; 14 cases: novel clinical and morphological observations. Histopathology. 2004;45:526–37.Google Scholar
Folpe, AL, Deyrup, AT. Alveolar soft-part sarcoma: a review and update. J Clin Pathol. 2006;59:1127–32.Google Scholar
Kayton, ML, Meyers, P, Wexler, LH, Gerald, WL, LaQuaglia, MP. Clinical presentation, treatment, and outcome of alveolar soft part sarcoma in children, adolescents, and young adults. J Ped Surg. 2006;41:187–93.Google Scholar
Ladanyi, M, Lui, MY, Antonescu, CR, et al. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene. 2001;20:4857.Google Scholar
Lieberman, PH, Brennan, MF, Kimmel, M, et al. Alveolar soft-part sarcoma. A clinico-pathologic study of half a century. Cancer. 1989;63:113.Google Scholar
Orbach, D, Brennan, B, Casanova, M, et al. Paediatric and adolescent alveolar soft part sarcoma: A joint series from European cooperative groups. Pediatr Blood Cancer. 2013;60:1826–32.Google Scholar
Portera, CA Jr, Ho, V, Patel, SR, et al. Alveolar soft part sarcoma: clinical course and patterns of metastasis in 70 patients treated at a single institution. Cancer. 2001;91:585–91.Google Scholar
Tsuda, M, Davis, IJ, Argani, P, et al. TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition. Cancer Res. 2007;67:919–29.Google Scholar
Argani, P, Aulmann, S, Illei, PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol. 2010;34:1395–406.Google Scholar
Bleeker, JS, Quevedo, JF, Folpe, AL. “Malignant” perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma. 2012;54:1626.Google Scholar
Bonetti, F, Pea, M, Martignoni, G, Zamboni, G. PEC and sugar. Am J Surg Pathol. 1992;16:307–8.Google Scholar
Doyle, LA, Hornick, JL, Fletcher, CD. PEComa of the gastrointestinal tract: clinicopathologic study of 35 cases with evaluation of prognostic parameters. Am J Surg Pathol. 2013;37:1769–82.Google Scholar
Folpe, AL, Goodman, ZD, Ishak, KG, et al. Clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres: a novel member of the perivascular epithelioid clear cell family of tumors with a predilection for children and young adults. Am J Surg Pathol. 2000;24:1239–46.Google Scholar
Folpe, AL, Kwiatkowski, DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010;41:115.Google Scholar
Hornick, JL, Fletcher, CD. PEComa: what do we know so far? Histopathology. 2006;48:7582.Google Scholar
Hornick, JL, Fletcher, CD. Sclerosing PEComa: clinicopathologic analysis of a distinctive variant with a predilection for the retroperitoneum. Am J Surg Pathol. 2008;32:493501.Google Scholar
Martignoni, G, Pea, M, Reghellin, D, Zamboni, G, Bonetti, F. PEComas: the past, the present and the future. Virchows Arch. 2008;452:119–32.Google Scholar
Nese, N, Martignoni, G, Fletcher, CD, et al. Pure epithelioid PEComas (so-called epithelioid angiomyolipoma) of the kidney: a clinicopathologic study of 41 cases: detailed assessment of morphology and risk stratification. Am J Surg Pathol. 2011;35:161–76.Google Scholar
Pan, CC, Chung, MY, Ng, KF, et al. Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma. J Pathol. 2008;214:387–93.Google Scholar
Schoolmeester, JK, Dao, LN, Sukov, WR, et al. TFE3 Translocation-associated perivascular epithelioid cell neoplasm (pecoma) of the gynecologic tract: morphology, immunophenotype, differential diagnosis. Am J Surg Pathol. 2015;39:394404.Google Scholar
Schoolmeester, JK, Howitt, BE, Hirsch, MS, et al. Perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: clinicopathologic and immunohistochemical characterization of 16 cases. Am J Surg Pathol. 2014;38:176–88.Google Scholar
Shen, Q, Rao, Q, Xia, QY, et al. Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: clinicopathological, immunohistochemical, and molecular features. Virchows Arch. 2014;465:607–13.Google Scholar
Stacchiotti, S, Marrari, A, Dei Tos, AP, Casali, PG. Targeted therapies in rare sarcomas: IMT, ASPS, SFT, PEComa, and CCS. Hematol Oncol Clin North Am. 2013;27:1049–61.Google Scholar
Wagner, AJ, Malinowska-Kolodziej, I, Morgan, JA, et al. Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol. 2010;28:835–40.Google Scholar
Dei Tos, AP, Mentzel, T, Fletcher, CD. Primary liposarcoma of the skin: a rare neoplasm with unusual high grade features. Am J Dermatopathol. 1998;20:332–8.Google Scholar
Gebhard, S, Coindre, JM, Michels, JJ, et al. Pleomorphic liposarcoma: clinicopathologic, immunohistochemical, and follow-up analysis of 63 cases: a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol. 2002;26:601–16.Google Scholar
Ghadimi, MP, Liu, P, Peng, T, et al. Pleomorphic liposarcoma: clinical observations and molecular variables. Cancer. 2011;117:5359–69.Google Scholar
Hornick, JL, Bosenberg, MW, Mentzel, T, et al. Pleomorphic liposarcoma: clinicopathologic analysis of 57 cases. Am J Surg Pathol. 2004;28:1257–67.Google Scholar
Huang, HY, Antonescu, CR. Epithelioid variant of pleomorphic liposarcoma: a comparative immunohistochemical and ultrastructural analysis of six cases with emphasis on overlapping features with epithelial malignancies. Ultrastruct Pathol. 2002;26:299308.Google Scholar
Miettinen, M, Enzinger, FM. Epithelioid variant of pleomorphic liposarcoma: a study of 12 cases of a distinctive variant of high-grade liposarcoma. Mod Pathol. 1999;12:722–8.Google Scholar
Agaimy, A, Otto, C, Braun, A, et al. Value of epithelioid morphology and PDGFRA immunostaining pattern for prediction of PDGFRA mutated genotype in gastrointestinal stromal tumors (GISTs). Int J Clin Exp Pathol. 2013;6:1839–46.Google Scholar
Agaimy, A, Wang, LM, Eck, M, Haller, F, Chetty, R. Loss of DOG-1 expression associated with shift from spindled to epithelioid morphology in gastric gastrointestinal stromal tumors with KIT and platelet-derived growth factor receptor alpha mutations. Ann Diagn Pathol. 2013;17:187–91.Google Scholar
Folpe, AL, Fanburg-Smith, JC, Miettinen, M, Weiss, SW. Atypical and malignant glomus tumors: analysis of 52 cases, with a proposal for the reclassification of glomus tumors. Am J Surg Pathol. 2001;25:112.Google Scholar
Gaal, J, Stratakis, CA, Carney, JA, et al. SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Mod Pathol. 2011;24:147–51.Google Scholar
Miettinen, M, Wang, ZF, Sarlomo-Rikala, M, et al. Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. Am J Surg Pathol. 2011;35:1712–21.Google Scholar
Schaefer, IM, Strobel, P, Cameron, S, et al. Rhabdoid morphology in gastrointestinal stromal tumours (GISTs) is associated with PDGFRA mutations but does not imply aggressive behaviour. Histopathology. 2014;64:421–30.Google Scholar
Nascimento, AF, Bertoni, F, Fletcher, CD. Epithelioid variant of myxofibrosarcoma: expanding the clinicomorphologic spectrum of myxofibrosarcoma in a series of 17 cases. Am J Surg Pathol. 2007;31:99105.Google Scholar
Eyden, B. Epithelioid leiomyosarcoma of the external deep soft tissue. Arch Pathol Lab Med. 2003;127:402–4.CrossRefGoogle ScholarPubMed
Suster, S. Epithelioid leiomyosarcoma of the skin and subcutaneous tissue. Clinicopathologic, immunohistochemical, and ultrastructural study of five cases. Am J Surg Pathol. 1994;18:232–40.Google Scholar
Yamamoto, T, Minami, R, Ohbayashi, C, Inaba, M. Epithelioid leiomyosarcoma of the external deep soft tissue. Arch Pathol Lab Med. 2002;126:468–70.Google Scholar
Bowe, SN, Ozer, E, Bridge, JA, Brooks, JS, Iwenofu, OH. Primary intranodal epithelioid rhabdomyosarcoma. Am J Clin Pathol. 2011;136:587–92.Google Scholar
Jo, VY, Marino-Enriquez, A, Fletcher, CD. Epithelioid rhabdomyosarcoma: clinicopathologic analysis of 16 cases of a morphologically distinct variant of rhabdomyosarcoma. Am J Surg Pathol. 2011;35:1523–30.Google Scholar
Seidal, T, Kindblom, LG, Angervall, L. Rhabdomyosarcoma in middle-aged and elderly individuals. APMIS. 1989;97:236–48.Google Scholar
Suarez-Vilela, D, Izquierdo-Garcia, FM, Alonso-Orcajo, N. Epithelioid and rhabdoid rhabdomyosarcoma in an adult patient: a diagnostic pitfall. Virchows Arch. 2004;445:323–5.CrossRefGoogle Scholar
Zin, A, Bertorelle, R, Dall’Igna, P, et al. Epithelioid rhabdomyosarcoma: a clinicopathologic and molecular study. Am J Surg Pathol. 2014;38:273–8.Google Scholar
Butrynski, JE, D’Adamo, DR, Hornick, JL, et al. Crizotinib in ALK-rearranged inflammatory myofibroblastic tumor. N Engl J Med. 2010;28;363:1727–33.Google Scholar
Lee, JC, Li, CF, Huang, HY, et al. ALK oncoproteins in atypical inflammatory myofibroblastic tumours: novel RRBP1-ALK fusions in epithelioid inflammatory myofibroblastic sarcoma. J Pathol. 2017;241:316323.Google Scholar
Marino-Enriquez, A, Wang, WL, Roy, A, et al. Epithelioid inflammatory myofibroblastic sarcoma: An aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK. Am J Surg Pathol. 2011;35:135–44.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×