Skip to main content Accessibility help
×
Home
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 1
  • Print publication year: 2010
  • Online publication date: March 2011

Chap 27 - PRIMARY SOFT TISSUE TUMORS WITH EPITHELIAL DIFFERENTIATION

Summary

Epithelial differentiation is often easily detected histologically and is almost always highlighted with immunohistochemical markers (i.e., keratins, epithelial membrane antigen [EMA], and others). Mesothelial proliferations and tumors are discussed in Chapter 28, and Merkel cell carcinoma and metastatic carcinomas in Chapter 29.

Some other nonepithelial cells and tumors also can express keratins and other epithelial markers. Examples of normal varyingly keratin-positive mesenchymal cells include endothelial and smooth muscle cells and some myofibroblasts. Many nonepithelial tumors, such as melanomas and many sarcomas, occasionally are keratin positive. These are discussed in the appropriate chapters.

Synovial sarcoma and epithelioid sarcoma are epithelial tumors of soft tissue of unknown histogenesis. These tumors are not thought to be closely related.

Mixed tumors and related skin adnexal tumors, and chordoma, a tumor mimicking the features of notochord cells, are also reviewed here.

SYNOVIAL SARCOMA

A synovial sarcoma is a specific soft tissue sarcoma with dual epithelial and mesenchymal differentiation. The tumor is not related to synovial lining cells, and its association with synovia, if any, is only incidental. The name is based on historical reasons, because the epithelial component of the biphasic tumors was once thought to replicate synovial slits. The typical t(X;18) translocation with SS18-SSX gene fusion is a useful diagnostic marker.

Demographics of Synovial Sarcoma

Synovial sarcomas are relatively common sarcomas, constituting from 7% to 10% of all soft tissue sarcomas. This tumor typically presents in young adults, with a median age of approximately 30 years and a mild male predominance.

REFERENCES
Synovial Sarcoma – General Reviews and Clinicopathologic Series
Fisher, C. Synovial sarcoma. Ann Diagn Pathol 1998;2:401–421.
Miettinen, M, Virtanen, I. Synovial sarcoma – A misnomer. Am J Pathol 1984;117:18–25.
Schmidt, D, Thum, P, Harms, D, Treuner, J. Synovial sarcoma in children and adolescents: A report from the Kiel pediatric tumor registry. Cancer 1991;67:1667–167.
Pappo, AS, Fontanesi, J, Luo, X, Rao, BN, Parham, DM, Hurwitz, C. Synovial sarcoma in children and adolescents: The St. Jude Children's Research Hospital experience. J Clin Oncol 1994;12:2360–2366.
Fetsch, JF, Meis, JM. Synovial sarcoma of the abdominal wall. Cancer 1993;72:469–477.
Roth, JA, Enzinger, FM, Tannenbaum, M. Synovial sarcoma of the neck: A follow-up study of 24 cases. Cancer 1975;35:1243–1253.
Dei Tos, AP, Dal Cin, P, Sciot, R, Furlanetto, A, Da Mosto, MC, Giannini, C. Synovial sarcoma of the larynx and hypopharynx. Ann Otol Rhinol Laryngol 1998;107:1080–1085.
Shmookler, BM, Enzinger, FM, Brannon, RB. Orofacial synovial sarcoma: A clinicopathologic study of 11 new cases and review of the literature. Cancer 1982;50:269–276.
Shmookler, BM. Retroperitoneal synovial sarcoma: A report of four cases. Am J Clin Pathol 1982;77:686–691.
Witkin, G, Miettinen, M, Rosai, J. A biphasic tumor of the mediastinum with features of synovial sarcoma: A report of four cases. Am J Surg Pathol 1989;13:490–499.
Begueret, H, Galateau-Salle, F, Guillou, L, Chetaille, B, Brambilla, E, Vignaud, JM. Primary intrathoracic synovial sarcoma: A clinicopathologic study of 46 t(X;18)-positive cases from the French Sarcoma Group and the Mesopath group. Am J Surg Pathol 2005;29:339–346.
Hartel, PH, Fanburg-Smith, JC, Frazier, AA, Galvin, JR, Lichy, JH, Shilo, K. Primary pulmonary and mediastinal synovial sarcoma: A clinicopathologic study of 60 cases and comparison with five prior series. Mod Pathol 2007;20:760–769.
Singer, S, Baldini, EH, Demetri, GC, Fletcher, JA, Corson, JM. Synovial sarcoma: Prognostic significance of tumor size, margin of resection, and mitotic activity for survival. J Clin Oncol 1996;14:1201–1208.
Bergh, P, Meis-Kindblom, JM, Gherlinzoni, F, Berlin, O, Bacchini, P, Bertoni, F. Synovial sarcoma: Identification of low- and high-risk groups. Cancer 1999;85:2596–2607.
Machen, SK, Fisher, C, Gautam, RS, Tubbs, RR, Goldblum, JR. 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 1999;23:268–275.
Lewis, JJ, Antonescu, CR, Leung, DH, Blumberg, D, Healey, JH, Woodruff, JM. Synovial sarcoma: A multivariate analysis of prognostic factors in 112 patients with primary localized tumors of the extremity. J Clin Oncol 2000;18:2087–2094.
Spillane, AJ, A'Hern, R, Judson, IR, Fisher, C, Thomas, JM. Synovial sarcoma: A clinicopathologic, staging, and prognostic assessment. J Clin Oncol 2000;18:3794–3800.
Trassard, M, LeDoussal, V, Hacene, K, Terrier, P, Ranchere, D, Guillou, L. Prognostic factors in localized primary synovial sarcoma: A multicenter study of 128 adult patients. J Clin Oncol 2001;19:525–534.
Zeren, H, Moran, CA, Suster, S, Fishback, NF, Koss, MN. Primary pulmonary sarcomas with features of monophasic synovial sarcoma: A clinicopathological, immunohistochemical and ultrastructural study of 25 cases. Hum Pathol 1995;26:474–480.
Kaplan, MA, Goodman, MD, Satish, J, Bhagavan, BS, Travis, WD. Primary pulmonary sarcoma with morphologic features of monophasic synovial sarcoma and chromosome translocation t(X;18). Am J Clin Pathol 1996;105:195–199.
Hisaoka, M, Hashimoto, H, Iwamasa, T, Ishikawa, K, Aoki, T. Primary synovial sarcoma of the lung: report of two cases confirmed by molecular detection of SYT-SSX fusion gene transcript. Histopathology 1999;34:205–210.
Miettinen, M, Santavirta, S, Slatis, P. Intravascular synovial sarcoma. Hum Pathol 1987;18:1075–1077.
Robertson, NJ, Halawa, MH, Smith, ME. Intravascular synovial sarcoma. J Clin Pathol 1998;51:172–173.
Karn, CM, Socinski, MA, Fletcher, JA, Corson, JM, Craighead, JE. Cardiac synovial sarcoma with translocation (X;18) associated with asbestosis exposure. Cancer 1994;73:74–78.
Zhang, PJ, Brooks, JS, Goldblum, JR, Yoder, B, Seethala, R, Pawel, B. Primary cardiac sarcomas: A clinicopathologic analysis of a series with follow-up information in 17 patients and emphasis on long-term survival. Hum Pathol 2008;39:1385–1395.
Billings, SD, Meisner, FL, Cummings, OW, Tejada, E. Synovial sarcoma of the upper digestive tract: A report of two cases with demonstration of the X;18 translocation by fluorescence in situ hybridization. Mod Pathol 2000;13:68–76.
Makhlouf, HR, Ahrens, W, Agarwal, B, Dow, N, Marshalleck, JJ, Lee, EL. Synovial sarcoma of the stomach: A clinicopathologic, immunohistochemical, and molecular genetic study of 10 cases. Am J Surg Pathol 2008;32:275–281.
Schreiber-Facklam, H, Bode-Lesniewska, B, Frigerio, S, Flury, R. Primary monophasic synovial sarcoma of the duodenum with SYT/SSX2 types of translocation. Hum Pathol 2007;38:946–949.
Argani, P, Faria, PA, Epstein, JI, Reuter, VE, Perlman, EJ, Beckwith, JB. Primary renal synovial sarcoma: Molecular and morphologic delineation of an entity previously included among embryonal sarcomas of the kidney. Am J Surg Pathol 2000;24:1087–1096.
Iwasaki, H, Ishiguro, M, Ohjimi, Y, Ikegami, H, Takeuchi, T, Kikuchi, M. Synovial sarcoma of the prostate with t(X;18)(p11.2;q11.2). Am J Surg Pathol 1999;23:220–226.
Fritsch, M, Epstein, JI, Perlman, EJ, Watts, JC, Argani, P. Molecularly confirmed primary prostatic synovial sarcoma. Hum Pathol 2000;31:246–250.
Synovial Sarcoma – Histologic Variants and Prognostic Factors
Mirra, JM, Wang, S, Bhuta, S: Synovial sarcoma with squamous differentiation of its mesenchymal glandular elements: A case report with light-microscopic, ultramicroscopic, and immunologic correlation. Am J Surg Pathol 1984;8:791–796.
Mckenzie, DH. Monophasic synovial sarcoma – a histologic entity?Histopathology 1977;1:151–157.
Evans, HL. Synovial sarcoma: A study of 23 biphasic and 17 probable monophasic examples. Pathol Annu 1980;15:309–313.
Krall, RA, Kostianovsky, M, Patchefsky, AS. Synovial sarcoma: A clinical, pathological and ultrastructural study of 26 cases supporting the recognition of a monophasic variant. Am J Surg Pathol 1981;5:137–151.
Varela-Duran, J, Enzinger, FM. Calcifying synovial sarcoma. Cancer 1982;50:345–352.
Milchgrub, S, Ghandur-Mnaymneh, L, Dorfman, HD, Albores-Saavedra, J. Synovial sarcoma with extensive osteoid and bone formation. Am J Surg Pathol 1993;17:357–363.
Rijn, M, Barr, FG, Xiong, QB, Hedges, M, Shipley, J, Fisher, C: Poorly differentiated synovial sarcoma: An analysis of clinical, pathologic, and molecular genetic features. Am J Surg Pathol 1999;23:106–112.
Oda, Y, Hashimoto, H, Tsuneyoshi, M, Takeshita, S. Survival in synovial sarcoma: A multivariate study of prognostic factors with special emphasis on the comparison between early death and long-term survival. Am J Surg Pathol 1993;17:35–44.
Kawai, A, Woodruff, J, Healey, JH, Brennan, MF, Antonescu, CRLadanyi, M: SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma. N Engl J Med 1998;338:153–160.
Ladanyi, M, Antonescu, CR, Leung, DH, Woodruff, JM, Kawai, A, Healey, JH. Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: A multi-institutional retrospective study of 243 patients. Cancer Res 2002;62:135–140.
Synovial Sarcoma – Immunohistochemistry
Ordonez, NG, Mahfouz, SM, Mackay, B: Synovial sarcoma: An immunohistochemical and ultrastructural study. Hum Pathol 1990;21:733–749.
Miettinen, M. Keratin subsets in spindle cell sarcomas: Keratins are widespread but synovial sarcoma contains a distinctive keratin polypeptide pattern and desmoplakins. Am J Pathol 1991;138:505–513.
Lopes, JM, Bjerkehagen, B, Holm, R, Bruland, O, Sobrinho-Simoes, M, Nesland, JM. Immunohistochemical profile of synovial sarcoma with emphasis on the epithelial-type differentiation: A study of 49 primary tumors, recurrences and metastases. Pathol Res Pract 1994;190:168–177.
Folpe, AL, Gown, AM. Poorly differentiated synovial sarcoma: Immunohistochemical distinction from primitive neuroectodermal tumors and high-grade malignant peripheral nerve sheath tumors. Am J Surg Pathol 1998;22:673–682.
Miettinen, M, Limon, J, Niezabitowski, A, Lasota, J. Patterns in keratin polypeptides in 110 biphasic, monophasic and poorly differentiated synovial sarcomas. Virchows Arch 2000;438:275–283.
Sato, H, Hasegawa, T, Abe, Y, Sakai, H, Hirohashi, S: Expression of E-cadherin in bone and soft tissue sarcomas: A possible role in epithelial differentiation. Hum Pathol 1999;30:1344–1349.
Laskin, WB, Miettinen, M. Epithelial-type and neural-type cadherin expression in malignant noncarcinomatous neoplasms with epithelioid features that involve the soft tissues. Arch Pathol Lab Med 2002;126:425–431.
Miettinen, M, Limon, J, Niezabitowski, A, Lasota, J. Calretinin expression in synovial sarcoma: Analysis of similarities and differences from malignant mesothelioma. Am J Surg Pathol 2001;25:610–617.
Terry, J, Saito, T, Subramanian, S, Ruttan, C, Antonescu, CR, Goldblum, JR. TLE1 as a diagnostic immunohistochemical marker for synovial sarcoma emerging from gene expression profiling studies. Am J Surg Pathol 2007;31:240–246.
Guillou, L, Wadden, C, Kraus, MD, Dei Tos, AP, Fletcher, CDM: S-100 protein reactivity in synovial sarcomas – a potentially frequent diagnostic pitfall: Immunohistochemical analysis of 100 cases. Applied Immunohistochemistry 1996;4:167–175.
Stevenson, AJ, Chatten, J, Bertoni, F, Miettinen, M: CD99 (p30/32 -MIC2) neuroectodermal/Ewing sarcoma antigen as an immunohistochemical marker: Review of more than 600 tumors and the literature experience. Applied Immunohistochemistry 1994;2:231–240.
Suster, S, Fisher, C, Moran, CA: Expression of bcl2 oncoprotein in benign and malignant spindle cell tumors of soft tissue, skin, serosal surfaces, and gastrointestinal tract. Am J Surg Pathol 1998;22:863–872.
Synovial Sarcoma – Genetics
Limon, J, Mrozek, K, Mandahl, N, Nedoszytko, B, Verhest, A, Rys, J. Cytogenetics of synovial sarcoma: Presentation of ten new cases and review of the literature. Genes Chromosomes Cancer 1991;3:338–345.
Dal Cin, P, Rao, U, Jani-Sait, S, Karakousis, C, Sandberg, AA. Chromosomes in the diagnosis of soft tissue tumors: I. Synovial sarcoma. Mod Pathol 1992;5:57–62.
Clark, J, Rocques, PJ, Crew, AJ, Gill, S, Shipley, J, Chan, AM-L, et al. Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma. Nat Genet 1994;7:502–508.
Leeuw, B, Balemans, M, Olde Weghuis, D, Geurts van Kessel, A. Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X;18)(p11.2;q11.2)-positive synovial sarcomas. Hum Mol Genet 1995;4:1097–1099.
Crew, J, Clark, J, Fisher, C, Gill, S, Grimer, R, Chand, A. Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma. EMBO J 1995;14: 2333–40.
Renwick, PJ, Reeves, BR, Dal Cin, P, Fletcher, CDM, Kempski, H, Sciot, R. Two categories of synovial sarcoma defined by divergent chromosome translocation breakpoints in Xp11.2, with implications for the histologic sub-classification of synovial sarcoma. Cytogenet Cell Genet 1995;70:58–63.
dos Santos, NR, Bruijn, DRH, Kessel, AG: Molecular mechanisms underlying human synovial sarcoma development. Genes Chromosomes Cancer 2001;30:1–14.
Skytting, B, Nilsson, G, Brodin, B, Xie, Y, Lundeberg, J, Uhlen, M: A novel fusion gene, SYT-SSX4, in synovial sarcoma. J Natl Cancer Inst 1999;91:974–975.
Gure, AO, Türeci, Ö, Sahin, U, Tsang, S, Scanlan, MJ, Jäger, E. SSX: A multigene family with several members transcribed in normal testis and human cancer. Int J Cancer 1997;72:965–71.
Leeuw, B, Suijkerbujik, RF, Olde Weghuis, D, Meloni, AM, Stenman, G, Kindblom, GL. Distinct Xp11.2 breakpoint regions in synovial sarcoma revealed by metaphase and interphase FISH: relationship to histologic subtypes. Cancer Genet Cytogenet 1994;73:89–94.
Poteat, HT, Corson, JM, Fletcher, JA. Detection of chromosome 18 rearrangement in synovial sarcoma by fluorescence in situ hybridization. Cancer Genet Cytogenet 1995;84:76–81.
Nagao, K, Ito, H, Yoshida, H. Chromosomal translocation t(X;18) in human synovial sarcomas analyzed by fluorescence in situ hybridization using paraffin-embedded tissue. Am J Pathol 1996;148:601–609.
Shipley, J, Crew, J, Birdsall, S, Gill, S, Clark, J, Fisher, C. Interphase fluorescence in situ hybridization and reverse transcription polymerase chain reaction as a diagnostic aid for synovial sarcoma. Am J Pathol 1996;148:559–567.
Zilmer, M. Use of nonbreakpoint DNA probes to detect the t(X;18) in interphase cells from synovial sarcoma: Implications for detection of diagnostic tumor translocations. Am J Pathol 1998;152:1171–1177.
Birdsall, S, Osin, P, Ly, YJ, Fisher, C, Shipley, J: Synovial sarcoma specific translocation associated with both epithelial and spindle cell components. Int J Cancer 1999;82:605–608.
Lu, YJ, Birdsall, S, Summersgill, B, Smedley, D, Osin, P, Fisher, C: Dual colour fluorescence in situ hybridization to paraffin-embedded samples to deduce the presence of the der(x)t(x;18)(p11.2;q11.2) and involvement of either the SSX1 or SSX2 gene: A diagnostic and prognostic aid for synovial sarcoma. J Pathol 1999;187:490–496.
Fligman, I, Leonardo, F, Jhanwar, SC, Gerald, WL, Woodruff, J, Ladanyi, M. Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript. Am J Pathol 1995;147:1592–1599.
Argani, P, Zakowski, MF, Klimstra, DS, Rosai, J, Ladanyi, M. Detection of the SYT-SSX chimeric RNA of synovial sarcoma in paraffin-embedded tissue and its application in problematic cases. Mod Pathol 1997;11:65–71.
Lasota, J, Jasinski, M, Debiec-Rychter, M, Limon, J, Miettinen, M: Detection of the SYT-SSX fusion transcripts in formaldehyde-fixed, paraffin embedded tissue: A reverse transcription polymerase chain reaction amplification assay useful in the diagnosis of synovial sarcoma. Mod Pathol 1998;11:626–633.
Tsuji, S, Hashimoto, H: Detection of SYT-SSX fusion transcripts in synovial sarcoma by reverse transcription-polymerase chain reaction using archival paraffin-embedded tissues. Am J Pathol 1998;153:1807–1812.
Nilsson, G, Skytting, B, Xie, Y, Brodin, B, Perfekt, R, Mandahl, N. The SYT-SSX1 variant of synovial sarcoma is associated with a high rate of tumor cell proliferation and poor clinical outcome. Cancer Res 1999;59:3180–3184.
Rijn, M, Barr, FG, Collins, MH, Xiong, QB, Fisher, C: Absence of SYT-SSX fusion products in soft tissue tumors other than synovial sarcoma. Am J Clin Pathol 1999;112:43–49.
Ladanyi, M, Woodruff, JM, Scheithauer, BW, Bridge, JA, Barr, FG. Letter to editor. Re: O'Sullivan MJ, Kyriakos M, Zhu X, Wick MR, Swanson PE, Dehner LP, Humphrey PA, Pfeifer JD: Malignant peripheral nerve sheath tumors with T(X;18): A pathologic and molecular genetic study. Mod Pathol 2000;13:1336–1446.
O'Sullivan, MJ, Kyriakos, M, Zhu, X, Wick, MR, Swanson, PE, Dehner, LP. Malignant peripheral nerve sheath tumors with T(X;18): A pathologic and molecular genetic study. Mod Pathol 2000;13:1336–1346.
Mandahl, N, Limon, J, Mertens, F, Nedoszytko, B, Gibas, Z, Denis, A. Nonrandom secondary chromosome aberrations in synovial sarcomas with t(X;18). Int J Oncol 1995;7:495–499.
Szymanska, J, Serra, M, Skytting, B, Larsson, O, Virolainen, M, Akerman, M. Genetic imbalances in 67 synovial sarcomas evaluated by comparative genomic hybridization. Genes Chromosomes Cancer 1998;23:213–219.
Epithelioid Sarcoma
Enzinger, FM. Epithelioid sarcoma – a sarcoma simulating a granuloma or a carcinoma. Cancer 1970;26:1029–1041.
Guillou, L, Wadden, C, Coindre, J-M, Krausz, T, Fletcher, CDM. “Proximal-type” epithelioid sarcoma, a distinctive aggressive neoplasm showing rhabdoid features: Clinicopathological, immunohistochemical and ultrastructural study of a series. Am J Surg Pathol 1997;21:130–146.
Prat, J, Woodruff, JM, Marcove, RC. Epithelioid sarcoma: An analysis of 22 cases indicating the prognostic significance of vascular invasion and regional lymph node metastasis. Cancer 1978;41:1472–1487.
Chase, DR, Enzinger, FM. Epithelioid sarcoma: Diagnosis, prognostic indicators, and treatment. Am J Surg Pathol 1985;9:241–263.
Steinberg, BD, Gelberman, RH, Mankin, HJ, Rosenberg, AE. Epithelioid sarcoma in the upper extremity. J Bone Joint Surg Am 1992;74:28–35.
Evans, HL, Baer, SC. Epithelioid sarcoma: A clinicopathologic and prognostic study of 26 cases. Semin Diagn Pathol 1993;10:286–291.
Kodet, R, Smelhaus, V, Newton, WA, Hamoudi, AB, Qualman, SJ, Singley, C. 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;14:433–451.
Halling, AC, Wollen, PC, Pritchard, DJ, Vlasak, R, Nascimento, AG. Epithelioid sarcoma: A clinicopathologic review of 55 cases. Mayo Clin Proc 1996;71:636–642.
Ross, HM, Lewis, JJ, Woodruff, JM, Brennnan, MF. Epithelioid sarcoma: Clinical behavior and prognostic factors of survival. Ann Surg Oncol 1997;4:491–495.
Spillane, AJ, Thomas, JM, Fisher, C. Epithelioid sarcoma: The clinicopathological complexities of this rare soft tissue sarcoma. Ann Surg Oncol 2000;7:218–225.
Callister, MD, Bello, MT, Pisters, PWT, Patel, SR, Feig, BW, Pollock, RE. Epithelioid sarcoma: Results of conservative surgery and radiotherapy. Int J Radiat Oncol Biol Phys 2001;51:384–391.
Casanova, M, Ferrari, A, Collini, B, Bisogno, G, Alaggio, R, Cecchetto, G. Epithelioid sarcoma in children and adolescents: A report from the Italian Soft Tissue Sarcoma Committee. Cancer 2006;106–708–717.
Hochstetter, AR, Meyer, VE, Grant, JW, Honegger, HP, Schreiber, A. Epithelioid sarcoma mimicking angiosarcoma: The value of immunohistochemistry in the differential diagnosis. Virchows Arch A Pathol Anat Histopathol 1991;418:271–278.
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;69:1382–1395.
Chase, DR, Weiss, SW, Enzinger, FM, Langloss, JM. Keratin in epithelioid sarcoma: An immunohistochemical study. Am J Surg Pathol 1984;8:435–441.
Mukai, M, Torikata, C, Iri, H, Hanaoka, H, Kawai, T, Yakumaru, K. Cellular differentiation of epithelioid sarcoma: An electron microscopic, enzyme histochemical, and immunohistochemical study. Am J Pathol 1985;119:44–56.
Daimaru, Y, Hashimoto, H, Tsuneoshi, M, Enjoji, M. Epithelial profile of epithelioid sarcoma: An immunohistochemical analysis of eight cases. Cancer 1987;59:131–141.
Manivel, JC, Wick, MR, Dehner, LP, Sibley, RK. Epithelioid sarcoma: An immunohistochemical study. Am J Clin Pathol 1987;87:319–326.
Meis, JM, Mackay, B, Ordonez, NG. Epithelioid sarcoma – an immunohistochemical and ultrastructural study. Surg Pathol 1988;1:13–31.
Miettinen, M, Fanburg-Smith, JC, Virolainen, M, Shmookler, BM, Fetsch, JF. Epithelioid sarcomas: An immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis. Hum Pathol 1999;30:934–942.
Laskin, WB, Miettinen, M. Epithelioid sarcoma: New insights based on extensive immunohistochemical analysis. Arch Pathol Lab Med 2003;127:1161–1168.
Gerharz, CD, Moll, R, Meister, P, Knuth, A, Gabbert, H. Cytoskeletal heterogeneity of an epithelioid sarcoma with expression of vimentin, cytokeratins, and neurofilaments. Am J Surg Pathol 14:274–283, 1990.
Gerharz, CD, Moll, R, Ramp, U, Mellin, W, Gabbert, HE. Multidirectional differentiation in a newly established human epithelioid sarcoma cell line (GRU-1) with co-expression of vimentin, cytokeratin and neurofilament proteins. Int J Cancer 1990;45:143–152.
Sirgi, KE, Wick, MR, Swanson, PE. B72.3 and CD34 immunoreactivity in malignant epithelioid soft tissue tumors: Adjuncts in the recognition of endothelial neoplasms. Am J Surg Pathol 1993;17:179–185.
Smith, MEF, Brown, JI, Fisher, C. Epithelioid sarcoma: Presence of vascular-endothelial cadherin and lack of epithelial cadherin. Histopathology 1998;33:425–431.
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;33:542–550.
Wick, MR, Manivel, JC. Epithelioid sarcoma and isolated necrobiotic granuloma: A comparative immunocytochemical study. J Cutan Pathol 1986;13:253–260.
Lin, L, Skacel, M, Sigel, JE, Bergfeld, JF, Montgomery, E, Fisher, C. Epithelioid sarcoma – an immunohistochemical analysis evaluating the utility of cytokeratin 5/6 in distinguishing superficial epithelioid sarcoma from spindle cell squamous cell carcinoma. J Cutan Pathol 2003;30:114–117.
Prayson, RA, Chahlavi, A. Metastatic epithelioid sarcoma to the brain: Palisaded necrosis mimicking glioblastoma multiforme. Ann Diagn Pathol 2002;6:272–280.
Genetics of Epithelioid Sarcoma
Stenman, S, Kindblom, LG, Willems, J, Angervall, L: A cell culture, chromosomal and quantitative DNA analysis of a metastatic epithelioid sarcoma. Cancer 1990;65:2006–2013.
Cordoba, JC, Parham, DM, Meyer, WH, Douglass, EC. A new cytogenetic finding in an epithelioid sarcoma t(8;22)(q22;q11). Cancer Genet Cytogenet 1994;72:151–154.
Iwasaki, H, Ohjimi, Y, Ishiguro, M, Isayama, T, Kaneko, Y, Yoh, S. Epithelioid sarcoma with an 18q aberration. Cancer Genet Cytogenet 1996;91:46–52.
Feely, MG, Fidler, ME, Nelson, M, Neff, JR, Bridge, JA. Cytogenetic findings in a case of epithelioid sarcoma and review of the literature. Cancer Genet Cytogenet 2000;119:155–157.
Quezado, MM, Middleton, LP, Bryant, B, Lane, K, Weiss, SW, Merino, MJ: Allelic loss on chromosome 22q in epithelioid sarcomas. Hum Pathol 1998;29:604–608.
Lushnikova, T, Knuutila, S, Miettinen, M: DNA copy number changes in epithelioid sarcoma and its variants: A comparative genomic hybridization study. Mod Pathol 2000;13:1092–1096.
Lin, L, Hicks, D, Xu, B, Sigel, JE, Bergfeld, WF, Montgomery, E. Expression profile and molecular genetic regulation of cyclinD1 expression in epithelioid sarcoma. Mod Pathol 2005;18:705–709.
Nishio, J, Iwasaki, H, Nabeshima, K, Ishiguro, M, Naumann, S, Isayama, T. Establishment of a new epithelioid sarcoma cell line. FU-EPS-1: Molecular cytogenetic characterization by use of spectral karyotyping and comparative genomic hybridization. Int J Oncol 2005;27:361–369.
Large Cell (Proximal-Type) Epithelioid Sarcoma
Hasegawa, T, Matsuno, Y, Shimoda, T, Umeda, T, Yoakoyama, R, Hiroshasi, S. Proximal-type epithelioid sarcoma: A clinicopathologic study of 20 cases. Mod Pathol 2001;14:655–663.
Modena, P, Lualdi, E, Facchninetti, F, Galli, L, Teixera, MR, Pilotti, S. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res 2005;65:4012–4019.
Rakheja, D, Wilson, KS, Meehan, J, Schultz, RA, Gomez, AM. “Proximal-type” and classic epithelioid sarcomas represent a clinicopathologic continuum: A case report. Pediatr Devel Pathol 2005;8:105–114.
Debiec-Rychter, M, Sciot, R, Hagemeijer, A: Common chromosome aberrations in the proximal type of epithelioid sarcoma. Cancer Genet Cytogenet 2000;123:133–136.
Lualdi, F, Modena, P, Debiec-Rychter, M, Pedeutour, F, Teixera, MR, Facchinetti, F. Molecular cytogenetic characterization of proximal-type epithelioid sarcoma. Genes Chromosomes Cancer 2004;41:283–290.
Mixed Tumor/Myoepithelioma and Parachordoma
Hirsch, P, Helwig, EB. Chondroid syringoma: Mixed tumor of skin, salivary gland type. Arch Dermatol 1961;84:835–847.
Stout, AP, Gorman, G. Mixed tumors of the skin of the salivary gland type. Cancer 1959;12:537–543.
Kunikane, H, Ishikura, H, Yamaguchi, J, Yoshiki, T, Itoh, T, Aizawa, M. Chnodroid syringoma (mixed tumor of the skin): A clinicopathologic study of 13 cases. Acta Pathol Jpn 1987;37:615–625.
Hassab-El-Naby, HM, Tam, S, White, WL, Ackerman, AB. Mixed tumors of the skin: A histological and immunohistochemical study. Am J Dermatopathol 1989;11:413–428.
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;21:13–22.
Michal, M, Miettinen, M. Myoepitheliomas of skin and soft tissues. Virchows Arch 1999;434:393–400.
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;27:1183–1196.
Mentzel, T, Requena, L, Kaddu, S, Soares de Aleida, LM, Sangueza, OP, Kutzner, H. Cutaneous myoepithelial neoplasms: clinicopathologic and immunohistochemical study of 20 cases suggesting a continuous spectrum ranging from benign mixed tumor of the skin to cutaneous myoepithelioma and myoepithelial carcinoma. J Cutan Pathol 2003;30:294–302.
Hornick, JL, Fletcher, CD. Cutaneous myoepithelioma: A clinicopathologic and immunohistochemical study of 14 cases. Hum Pathol 2004;35:14–24.
Ishimura, E, Iwamoto, H, Kobashi, Y, Yamabe, H, Ichijima, K. Malignant chondroid syringoma: Report of a case with widespread metastasis and review of pertinent literature. Cancer 1983;52:1966–1973.
Ferreiro, JA, Nascimento, AG. Hyaline-cell rich chondroid syringoma: A tumor mimicking malignancy. Am J Surg Pathol 1995;19:912–917.
Headington, JT. Mixed tumor of the skin: Eccrine and apocrine type. Arch Dermatol 1961;84:989–996.
Brandal, P, Panagopoulos, I, Bjerkehagen, B, Gorunova, L, Skjeldal, S, Micci, F. Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in myoepithelioma. Genes Chromosomes Cancer 2008;47:558–564.
Berg, E, Zorgrager, H, Hoekstra, HJ, Suurmeijer, AJ. Cytogenetics of a soft tissue malignant myoepithelioma. Cancer Genet Cytogenet 2004;151:87–89.
Dabska, M. Parachordoma – A new clinical entity. Cancer 1977;40:1586–1592.
Fisher, C, Miettinen, M. Parachordoma: Clinicopathologic and immunohistochemical study of four cases of an unusual soft tissue neoplasm. Ann Diagn Pathol 1997;1:3–10.
Folpe, AL, Agoff, SN, Willis, J, Weiss, SW. Parachordoma is immunohistochemically and cytogenetically distinct from axial chordoma and extraskeletal myxoid chondrosarcoma. Am J Surg Pathol 1999;23:1059–1067.
Other Adnexal Tumors
Johnson, BL, Helwig, EB. Eccrine acrospiroma: A clinicopathologic study. Cancer 1969;23:641–657.
Winkelmann, RK, Wolff, K. Solid-cystic hidradenoma. Arch Dermatol 1968;97:651–661.
Wiley, EL, Milchgrub, S, Freeman, RG, Kim, ES. Sweat gland adenomas: Immunohistochemical study with emphasis on myoepithelial differentiation. J Cutan Pathol 1993;20:337–343.
Demirkesen, C, Hoede, N, Moll, R. Epithelial markers and differentiation in adnexal neoplasms of the skin: An immunohistochemical study including individual cytokeratins. J Cutan Pathol 1995;22:518–535.
Kersting, DW, Helwig, EB. Eccrine spiradenoma. AMA Arch Dermatol 1956;73:199–227.
Kao, GF, Laskin, WB, Weiss, SW. Eccrine spiradenoma occurring in infancy mimicking mesenchymal tumor. J Cutan Pathol 1990;17:214–219.
Mambo, NC. Eccrine spiradenoma: clinical and pathologic study of 49 tumors. J Cutan Pathol 1983;10:312–320.
Evans, HL, Daniel, WP, Smith, JL, Winkelmann, RK. Carcinoma arising in eccrine spiradenoma. Cancer 1979;43:1881–1884.
Wick, MR, Swanson, PE, Kaye, VN, Pittelkow, MR. Sweat gland carcinoma ex eccrine spiradenoma. Am J Dermatopathol 1987;9:90–98.
Argenyi, ZB, Nguyen, AV, Balogh, K, Sears, JK, Whitaker, DC. Malignant eccrine spiradenoma: A clinicopathologic study. Am J Dermatopathol 1992;14:381–390.
Granter, SR, Seeger, K, Calonje, E, Busam, K, McKee, PH. Malignant eccrine spiradenoma (spiradenocarcinoma): A clinicopathologic study of 12 cases. Am J Dermatopathol 2000;22:97–103.
McKee, PH, Fletcher, CDM, Stavrinos, P, Pambakian, H. Carcinosarcoma arising in eccrine spiradenoma: A clinicopathologic and immunohistochemical study of two cases. Am J Dermatopathol 1990;12:335–343.
Oord, JJ, Wolf-Peeters, C. Perivascular spaces in eccrine spiradenoma: A clue to its histological diagnosis. Am J Dermatopathol 1995;17:266–270.
Watanabe, S, Hirose, M, Sato, S, Takahashi, H. Immunohistochemical analysis of cytokeratin expression in eccrine spiradenoma: similarities to the transitional portions between secretory segments and coiled ducts of eccrine glands. Br J Dermatol 1994;131:799–807.
Al-Nafussi, A, Blessing, K, Rahilly, M. Non-epithelial cellular components in eccrine spiradenoma: A histological and immunohistochemical study of 20 cases. Histopathology 1991;18:155–160.
Crain, RC, Helwig, EB. Dermal cylindroma (dermal eccrine cylindroma). Am J Clin Pathol 1961;35:504–515.
Takahashi, M, Rapley, E, Biggs, PJ, Lakhani, SR, Cooke, D, Hansen, J. Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and define the CYLD locus on chromosome 16q12-q13. Gum Genet 2000;106:58–65.
Lee, DA, Grossman, ME, Scheinerman, P, Celebi, JT. Genetics of skin appendage neoplasms and related syndromes. J Med Genet 2005;42:811–819.
Massoumi, R, Paus, R. Cylindromatosis and the CYLD gene: New lessons on the molecular principles of epithelial growth control. Bioessays 2007;29:1203–1214.
Kao, GF, Helwig, EB, Graham, JH. Aggressive digital papillary adenoma and adenocarcinoma: A clinicopathological study of 57 patients, with histochemical, immunopathological, and ultrastructural observations. J Cutan Pathol 1987;14:129–146.
Duke, WH, Sherrod, TT, Lupton, GP. Aggressive digital papillary adenocarcinoma (aggressive digital papillary adenoma and adenocarcinoma revisited). Am J Surg Pathol 2000;24:775–784.
Bakotic, B, Antonescu, CR. Aggressive digital papillary adenocarcinoma of the foot: The clinicopathologic features of two cases. J Foot Ankle Surg 2000;39:402–405.
Chordoma
Chambers, PW, Schwinn, CP: Chordoma: A clinicopathologic study of metastasis. Am J Clin Pathol 1979;72:765–776.
Su, WPD, Louback, JB, Gagne, EJ, Scheithauer, BW: Chordoma cutis: A report of nineteen patients with cutaneous involvement of chordoma. J Am Acad Dermatol 1993;29:63–66.
Suster, S, Moran, C: Chordomas of the mediastinum: Clinicopathologic, immunohistochemical, and ultrastructural study of six cases presenting as posterior mediastinal masses. Hum Pathol 1995;26:1354–1362.
O'Hara, BJ, Paetau, A, Miettinen, M: Keratin subsets and monoclonal antibody HBME-1 in chordoma – immunohistochemical differential diagnosis between tumors simulating chordoma. Hum Pathol 1998;29:119–126.
Ectopic Hamartomatous Thymoma
Rosai, J, Limas, C, Husband, EM: Ectopic hamartomatous thymoma: A distinctive benign lesion of lower neck. Am J Surg Pathol 1984;8:501–513.
Fetsch, JF, Laskin, WB, Michal, M, Remotti, F, Heffner, D, Ellis, G. Ectopic hamartomatous thymoma: A clinicopathologic and immunohistochemical analysis of 21 cases with data supporting reclassification as a branchial anlage mixed tumor. Am J Surg Pathol 2004;28:1360–1370.
Fetsch, JF, Weiss, SW: Ectopic hamartomatous thymoma: clinicopathologic, immunohistochemical, and histogenetic considerations in four new cases. Hum Pathol 1990;21:662–668.
Chan, JK, Rosai, J. Tumors of the neck showing thymic or related branchial pouch differentiation: A unifying concept. Hum Pathol 1991;22:349–367.
Michal, M, Zamecnik, M, Gogora, M, Mukensnabl, P, Neubauer, L. Pitfalls in the diagnosis of ectopic hamartomatous thymoma. Histopathology 1996;29:549–555.
Fukunaga, M. Ectopic hamartomatous thymoma: A case report with immunohistochemical and ultrastructural studies. APMIS 2002;110:565–570.