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  • Print publication year: 2010
  • Online publication date: March 2011



Tumors composed of skeletal muscle are the most common soft tissue sarcomas in the pediatric age group but make up only a small percentage of sarcomas in adults. Multicenter studies by the Intergroup Rhabdomyosarcoma Study/Children's Oncology Group and others have made it possible to study these tumors extensively. The focus of this chapter is benign and malignant soft tissue tumors that have skeletal muscle differentiation as a principal component (Table 20.1). There are several other tumors that display heterologous skeletal muscle differentiation. For this reason, when one encounters rhabdomyosarcomatous differentiation, these diagnoses must be ruled out, especially in adults.

Unlike tumors of adipose tissue and blood vessels, and fibrous lesions, malignant tumors with skeletal muscle differentiation are more common than benign ones. A prevalent theory is that an undifferentiated mesenchymal cell becomes malignant and then differentiates along several tissue pathways, giving rise to sarcomas having various histologic characteristics. Some evidence exists for the origination of some rhabdomyosarcomas (RMSs) from differentiated myocytes, however. Preexisting skeletal muscle is not a prerequisite for their development, however, as is proved by RMSs arising in sites such as the urinary bladder.

The reason for the predominance of RMS in childhood and teenage years and their rarity in adults remains a mystery. During fetal development, normal myogenesis is complete by early in the second trimester. The association of RMS with younger age groups suggests that primitive myogenic stem cells are perturbed by proliferation factors, genetic associations, and tissue differentiation processes rather than external carcinogenic factors.

Keller, C, Hansen, MS, Coffin, CM, Capecchi, MR: Pax3:Fkhr interferes with embryonic Pax3 and Pax7 function: implications for alveolar rhabdomyosarcoma cell of origin. Genes Dev 2004;18:2608–2613.
Enzinger, FM, Weiss, SW (Eds). Rhabdomyoma and rhabdomyosarcoma. In Soft Tissue Tumors, 4th ed. Louis, St., Mosby, 2001, p. 771.
Pendle, F. Über ein congenitales Rhabdomyom der Zunge. Ztschn Neilkund 1897;18:457–468.
Reitter, GS. Rhabdomyoma of the nose: a case report. JAMA 1921;76:22–23.
Dehner, LP, Enzinger, FM, Font, RL. Fetal rhabdomyoma: An analysis of nine cases. Cancer 1972;30:160–166.
Kapadia, SB, Meis, JM, Frisman, DM, Ellis, GL, Heffner, DK. Fetal rhabdomyoma of the head and neck: a clinicopathologic and immunophenotypic study of 24 cases. Hum Pathol 1993;24:754–765.
O'Shea, PA. Myogenic tumors of soft tissue. In Coffin, CM, Dehner, LP, O'Shea, PA (eds): Pediatric Soft Tissue Tumors: A Clinical, Pathologic, and Therapeutic approach. Baltimore, Williams & Wilkins, 1997, p. 214.
Kodet, R, Fajstavr, J, Kabelka, Z, Koutecky, J, Eckschlager, T, Newton, WA. Is fetal cellular rhabdomyoma an entity or a differentiated rhabdomyosarcoma? A study of patients with rhabdomyoma of the tongue and sarcoma of the tongue enrolled in the Intergroup Rhabdomyosarcoma Studies I, II, and III. Cancer 1991;67:2907–2913
Smith, NM, Thornton, CM. Fetal rhabdomyoma: two instances of recurrence. Pediatr Pathol Lab Med 1996;16:673–680.
Crotty, PL, Nakhleh, RE, Dehner, LP. Juvenile rhabdomyoma: An intermediate form of skeletal muscle tumor in children. Arch Pathol Lab Med 1993;117:43–47.
Erlandson, RA (Ed.): Rhabdomyoma and rhabdomyosarcoma. In: Diagnostic Transmission Electron Microscopy. New York, Raven Press, 1994, pp. 696–700.
Tostar, U, Malm, CJ, Meis-Kindblom, JM, Kindblom, LG, Toftgård, R, Undén, AB. Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development. J Pathol 2006;208:17–25.
Misch, KA. Rhabdomyoma purum: a benign rhabdomyoma of tongue. J Pathol Bacteriol 1958;75:105–108.
Ferlito, A, Frugoni, P. Rhabdomyoma purum of the larynx. J Laryngol Otolaryngol 1975;89:1131–1141.
Agamanolis, DP, Dasu, S, Krill, CE. Tumors of skeletal muscle. Hum Pathol 1986;17:778–795.
Kapadia, SB, Meis, JM, Frisman, DM, Ellis, GL, Heffner, DK, Hyams, VJ. Adult rhabdomyoma of the head and neck: a clinicopathologic and immunophenotypic study. Hum Pathol 1993;24:608–617.
Solomon, MP, Tolete-Velcek, F. Lingual rhabdomyoma (adult variant) in a child. J Pediatr Surg 1979;14: 91–94.
Hansen, T, Katenkamp, D. Rhabdomyoma of the head and neck: morphology and differential diagnosis. Virchows Arch 2005;447:849–854.
Friedman, MT, Molho, L, Valderrama, E, Kahn, LB. Crystal-storing histiocytosis associated with a lymphoplasmacytic neoplasm mimicking adult rhabdomyoma: a case report and review of the literature. Arch Pathol Lab Med 1996;120:1133–1136.
Gibas, Z, Miettinen, M. Recurrent parapharyngeal rhabdomyoma: Evidence of neoplastic nature of the tumor from cytogenetic study. Am J Surg Pathol 1992;16:721–728.
Willis, J, Abdul-Karim, FW, di Sant'Agnese, PA. Extracardiac rhabdomyomas. Semin Diagn Pathol 1994;11:15–25.
Konrad, EA, Meister, P, Hübner, G. Extracardiac rhabdomyoma: report of different types with light microscopic and ultrastructural studies. Cancer 1982;49:898–907.
Tanda, F, Rocca, PC, Bosincu, L, Massarelli, G, Cossu, A, Manca, A. Rhabdomyoma of the tunica vaginalis of the testis: a histologic, immunohistochemical, and ultrastructural study. Mod Pathol 1997;10:608–611.
Hanski, W, Hagel-Lewicka, E, Daniszewski, K. Rhabdomyomas of female genital tract: Report on two cases. Zentralbl Pathol 1991;137:439–442.
Ostör, AG, Fortune, DW, Riley, CB. Fibroepithelial polyps with atypical stromal cells (pseudosarcoma botryoides) of vulva and vagina: A report of 13 cases. Int J Gynecol Pathol 1988;7:351–60.
Kawamoto, S, Matsuda, H, Ueki, K, Okada, Y, Kim, P. Neuromuscular choristoma of the oculomotor nerve: case report. Neurosurgery 2007;60:E777–778.
Tobias, S, Kim, CH, Sade, B, Staugaitis, SM, Lee, JH. Neuromuscular hamartoma of the trigeminal nerve in an adult. Acta Neurochir (Wien) 2006;148:83–87.
Uysal, A, Sungur, N, Koçer, U, Cöloğlu, H, Oruç, M, Yalta, T. Neuromuscular hamartoma of the occipital nerve: clinical report. J Craniofac Surg 2005;16:740–742.
Tiffee, JC, Barnes, EL. Neuromuscular hamartomas of the head and neck. Arch Otolaryngol Head Neck Surg 1998; 124:212–216.
Dorpe, J, Sciot, R, Vos, R, Uyttebroeck, A, Stas, M, Damme, B. Neuromuscular choristoma (hamartoma) with smooth and striated muscle component: case report with immunohistochemical and ultrastructural analysis. Am J Surg Pathol 1997;21:1090–1095.
Mavrikakis, I, White, VA, Heran, M, Rootman, J. Orbital mesenchymal hamartoma with rhabdomyomatous features. Br J Ophthalmol 2007;91:692–693.
Sotta, P, Salomone, C, González, S. Rhabdomyomatous mesenchymal hamartoma of the tongue: report of a case. J Oral Pathol Med 2007;36:58–59.
Ortak, T, Orbay, H, Unlü, E, Uysal, C, Uraloglu, M, Sensöz, OM. Rhabdomyomatous mesenchymal hamartoma. J Craniofac Surg 2005;16:1135–1137.
Magro, G, Di Benedetto, A, Sanges, G, Scalisi, F, Alaggio, R. Rhabdomyomatous mesenchymal hamartoma of oral cavity: an unusual location for such a rare lesion. Virchows Arch 2005;446:346–347.
Rosenberg, AS, Kirk, J, Morgan, MB. Rhabdomyomatous mesenchymal hamartoma: an unusual dermal entity with a report of two cases and a review of the literature. J Cutan Pathol 2002;29:238–243.
Read, RW, Burnstine, M, Rowland, JM, Zamir, E, Rao, NA. Rhabdomyomatous mesenchymal hamartoma of the eyelid: report of a case and literature review. Ophthalmology 2001;108:798–804.
Takeyama, J, Hayashi, T, Sanada, T, Shimanuki, Y, Saito, M, Shirane, R. Rhabdomyomatous mesenchymal hamartoma associated with nasofrontal meningocele and dermoid cyst. J Cutan Pathol 2005;32:310–313.
Adam, MP, Abramowsky, CR, Brady, AN, Coleman, K, Todd, NW. Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?Birth Defects Res A Clin Mol Teratol 2007;79:242–248.
Heffner, RR, Armbrustmacher, VW, Earle, KM. Focal myositis. Cancer 1977;40:301–306.
Colding-Jørgensen, E, Laursen, H, Lauritzen, M. Focal myositis of the thigh: report of two cases. Acta Neurol Scand 1993;88:289–92.
Ellis, GL, Brannon, RB. Focal myositis of the perioral musculature. Oral Surg Oral Med Oral Pathol 1979;48:337–341.
Heffner, RR Jr, Barron, SA. Denervating changes in focal myositis, a benign inflammatory pseudotumor. Arch Pathol Lab Med 1980;104:261–264.
Flaisler, F, Blin, D, Asencio, G, Lopez, FM, Combe, B. Focal myositis: a localized form of polymyositis?J Rheumatol 1993;20:1414–1416.
Weber, CO. Anatomishche Untersuchung einer hypertrophische Zunge nebst Bemerkunger uber die Neubildung quergestreifter Muskelfasern. Virchows Arch [Pathol Anat] 1854;7:115.
Wolfensberger, R. Uber ein Rhabdomyom der Speiserohre. Beitr Pathol Anat Allg Pathol 1894;15:491.
Berard, M. Tumeur embryonnaire du muscle striae. Lyon Med 1894;77:52.
Riopelle, JL, Thériault, JP. Sur une forme méconnue de sarcome des parties molles: le rhabdomyosarcome alvéolaire. Ann Anat Pathol (Paris) 1956;1:88–111.
Stout, AP. Rhabdomyosarcoma of the skeletal muscles. Ann Surg 1946:123;447–472.
Horn, RC, Enterline, HT. Rhabdomyosarcoma: a clinicopathologic study of 39 cases. Cancer 1958;11:181–199.
Newton, WA., Gehan EA, Webber BL, Marsden HB, van Unnik AJM, Hamoudi AB, et al. Classification of rhabdomyosarcoma and related sarcomas: pathologic aspects and proposal for a new classification – an Intergroup Rhabdomyosarcoma Study. Cancer 1995;76:1073–1085.
Qualman, SJ, Coffin, CM, Newton, WA, Hojo, H, Triche, TJ, Parham, DM, Crist, WM. Intergroup Rhabdomyosarcoma Study: update for pathologists. Pediatr Dev Pathol 1998;1:550–561.
Daya, DA, Scully, RE. Sarcoma botryoides of the uterine cervix in young women: a clinicopathological study of 13 cases. Gynecol Oncol 1988;29:290–304.
Miki, H, Kobayashi, S, Kushida, Y, Sasaki, M, Haba, R, Hirakawa, E. A case of infantile rhabdomyofibrosarcoma with immunohistochemical, electronmicroscopical, and genetic analyses. Hum Pathol 1999;30:1519–1522.
Coffin, CM, Rulon, J, Smith, L, Bruggers, C, White, FV. Pathologic features of rhabdomyosarcoma before and after treatment: a clinicopathologic and immunohistochemical analysis. Mod Pathol 1997;10:1175–87.
Arndt, CA, Hammond, S, Rodeberg, D, Qualman, S. Significance of persistent mature rhabdomyoblasts in bladder/prostate rhabdomyosarcoma: Results from IRS IV. J Pediatr Hematol Oncol 2006;28:563–567.
Arndt, CA, Crist, WM. Common musculoskeletal tumors of childhood and adolescence. N Engl J Med 1999;341:342–352.
Morandi, S, Manna, A, Sabattini, E, Porcellini, A. Rhabdomyosarcoma presenting as acute leukemia. J Pediatr Hematol Oncol 1996;18:305–307.
Pinto, A, Tallini, G, Novak, RW, Bowen, T, Parham, DM. Undifferentiated rhabdomyosarcoma with lymphoid phenotype expression. Med Pediatr Oncol 1997;28:165–170.
Meza, JL, Anderson, J, Pappo, AS, Meyer, WH. Children's Oncology Group. Analysis of prognostic factors in patients with nonmetastatic rhabdomyosarcoma treated on Intergroup Rhabdomyosarcoma Studies III and IV: the Children's Oncology Group. J Clin Oncol 2006;24:3844–3851.
Locatelli, F, Tonani, P, Porta, F, Zecca, M, Beluffi, G, Fiori, P. Rhabdomyosarcoma with primary osteolytic lesions simulating non-Hodgkin's lymphoma. Pediatr Hematol Oncol 1991;8:159–164.
Scott, RS, Jagirdar, J. Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. Ann Diagn Pathol 2007;11:274–276.
Reynolds, EA, Logani, S, Moller, K, Horowitz, IR. Embryonal rhabdomyosarcoma of the uterus in a postmenopausal woman: Case report and review of the literature. Gynecol Oncol 2006;103:736–739.
Bridge, JA, Liu, J, Weibolt, V, Baker, KS, Perry, D, Kruger, R. Novel genomic imbalances in embryonal rhabdomyosarcoma revealed by comparative genomic hybridization and fluorescence in situ hybridization: an Intergroup Rhabdomyosarcoma study. Genes Chromosomes Cancer 2000;27:337–344.
Scrable, H, Witte, D, Shimada, H, Seemayer, T, Sheng, WW, Soukup, S. Molecular differential pathology of rhabdomyosarcoma. Genes Chromosomes Cancer 1989;1:23–35.
Scrable, HJ, Witte, DP, Lampkin, BC, Cavenee, WK. Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping. Nature 1987;329:645–647.
Merlino, G, Helman, LJ. Rhabdomyosarcoma–working out the pathways. Oncogene 1999;18:5340–5348.
Wachtel, M, Runge, T, Leuschner, I, Stegmaier, S, Koscielniak, E, Treuner, J. Subtype and prognostic classification of rhabdomyosarcoma by immunohistochemistry. J Clin Oncol 2006;24:816–822.
Weber-Hall, S, Anderson, J, McManus, A, Abe, S, Nojima, T, Pinkerton, R. Gains, losses, and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization. Cancer Res 1996;56:3220–3224.
San Miguel-Fraile, P, Carrillo-Gijón, R, Rodriguez-Peralto, JL, Badiola, IA. Prognostic significance of DNA ploidy and proliferative index (MIB-1 index) in childhood rhabdomyosarcoma. Am J Clin Pathol 2004;121:358–365.
Pappo, AS, Crist, WM, Kuttesch, J, Rowe, S, Ashmun, RA, Maurer, HM, Newton, WA, Asmar, L, Luo, X, Shapiro, DN. Tumor-cell DNA content predicts outcome in children and adolescents with clinical group III embryonal rhabdomyosarcoma. J Clin Oncol 1993;11:1901–1905.
Shapiro, DN, Parham, DM, Douglass, EC, Ashmun, R, Webber, BL, Newton, WA. Relationship of tumor-cell ploidy to histologic subtype and treatment outcome in children and adolescents with unresectable rhabdomyosarcoma. J Clin Oncol 1991;9:159–166.
Palmer, NG, Sachs, N, Foulkes, M: Histopathology and prognosis in rhabdomyosarcoma [abstract]. Proc Am Soc Clin Oncol 1981;1:113.
Cavazzana, AO, Schmidt, D, Ninfo, V, Harms, D, Tollot, M, Carli, M. Spindle cell rhabdomyosarcoma: A prognostically favorable variant of rhabdomyosarcoma. Am J Surg Pathol 1992;16:229–235.
Leuschner, I, Newton, WA, Schmidt, D, Sachs, N, As, L, Hamoudi, A, Harms, D, Maurer, HM. Spindle cell variants of embryonal rhabdomyosarcoma in the paratesticular region: A report of the Intergroup Rhabdomyosarcoma Study. Am J Surg Pathol. 1993;17:221–230.
Mentzel, T, Kuhnen, C. Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. Virchows Arch 2006;449:554–560.
Kodet, R, Newton, WA, Hamoudi, AB, Asmar, L, Jacobs, DL, Maurer, HM. Childhood rhabdomyosarcoma with anaplastic (pleomorphic) features: A report of the Intergroup Rhabdomyosarcoma Study. Am J Surg Pathol 1993;17:443–453.
Bridge, JA, Liu, J, Qualman, SJ, Suijkerbuijk, R, Wenger, G, Zhang, J. Genomic gains and losses are similar in genetic and histologic subsets of rhabdomyosarcoma, whereas amplification predominates in embryonal with anaplasia and alveolar subtypes. Genes Chromosomes Cancer 2002;33:310–321.
Smith, LM, Anderson, JR, Qualman, SJ, Crist, WM, Paidas, CN, Teot, . Which patients with microscopic disease and rhabdomyosarcoma experience relapse after therapy? A report from the Soft Tissue Sarcoma committee of the Children's Oncology Group. J Clin Oncol 2001;19:4058–4064.
Tsokos, M, Webber, BL, Parham, DM, Wesley, RA, Miser, A, Miser, JS. Rhabdomyosarcoma: A new classification scheme related to prognosis. Arch Pathol Lab Med 1992;116:847–855.
Kazanowska, B, Jelen, M, Reich, A, Tarnawski, W, Chybicka, A. The role of nuclear morphometry in prediction of prognosis for rhabdomyosarcoma in children. Histopathology 2004;45:352–359.
Parham, DM, Shapiro, DN, Downing, JR, Webber, BL, Douglass, EC. Solid alveolar rhabdomyosarcomas with the t (2; 13): Report of two cases with diagnostic implications. Am J Surg Pathol 1994;18:474–478.
Kelly, KM, Womer, RB, Sorensen, PH, Xiong, QB, Barr, FG. Common and variant gene fusions predict distinct clinical phenotypes in rhabdomyosarcoma. J Clin Oncol 1997;15:1831–1836.
Barr, FG, Qualman, SJ, Macris, MH, Melnyk, N, Lawlor, ER, Strzelecki, DM. Genetic heterogeneity in the alveolar rhabdomyosarcoma subset without typical gene fusions. Cancer Res 2002:62:4704–4710.
Davicioni, E, Finckenstein, FG, Shahbazian, V, Buckley, JD, Triche, TJ, Anderson, MJ. Identification of a PAX-FKHR gene expression signature that defines molecular classes and determines the prognosis of alveolar rhabdomyosarcomas. Cancer Res 2006;66:6936–6946.
Nishio, J, Althof, PA, Bailey, JM, Zhou, M, Neff, JR, Barr, FG. Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma. Lab Invest 2006;86:547–556.
Theunissen, P, Cremers, M, Meer, S, Bot, F, Bras, J. Cytologic diagnosis of rhabdomyosarcoma in a child with a pleural effusion: A case report. Acta Cytol 2004;48:249–253.
Anderson, J, Gordon, T, McManus, A, Mapp, T, Gould, S, Kelsey, A. UK Children's Cancer Study Group (UKCCSG) and the UK Cancer Cytogenetics Group. Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome?Br J Cancer 2001;85:831–835.
Furlong, MA, Fanburg-Smith, JC. Pleomorphic rhabdomyosarcoma in children: four cases in the pediatric age group. Ann Diagn Pathol 2001;5:199–206.
Nascimento, AF, Fletcher, CD. Spindle cell rhabdomyosarcoma in adults. Am J Surg Pathol 2005;29:1106–1113.
Gaffney, EF, Dervan, PA, Fletcher, CD. Pleomorphic rhabdomyosarcoma in adulthood. Analysis of 11 cases with definition of diagnostic criteria. Am J Surg Pathol 1993;17:601–609.
Wesche, WA, Fletcher, CD, Dias, P, Houghton, PJ, Parham, DM. Immunohistochemistry of MyoD1 in adult pleomorphic soft tissue sarcomas. Am J Surg Pathol 1995;19:261–269.
Furlong, MA, Mentzel, T, Fanburg-Smith, JC. Pleomorphic rhabdomyosarcoma in adults: a clinicopathologic study of 38 cases with emphasis on morphologic variants and recent skeletal muscle-specific markers. Mod Pathol 2001;14:595–603.
Gordon, A, McManus, A, Anderson, J, Fisher, C, Abe, S, Nojima, T. Chromosomal imbalances in pleomorphic rhabdomyosarcomas and identification of the alveolar rhabdomyosarcoma-associated PAX3-FOXO1A fusion gene in one case. Cancer Genet Cytogenet 2003;140:73–77.
Govender, D, Chetty, R. Clear cell (glycogen-rich) rhabdomyosarcoma presenting as cervical lymphadenopathy. ORL J Otorhinolaryngol Relat Spec 1999;61:52–54.
Boman, F, Champigneulle, J, Schmitt, C, Beurey, P, Floquet, J, Boccon-Gibod, L. Clear cell rhabdomyosarcoma. Pediatr Pathol Lab Med 1996;16:951–959.
Chan, JK, Ng, HK, Wan, KY, Tsao, SY, Leung, TW, Tse, KC. Clear cell rhabdomyosarcoma of the nasal cavity and paranasal sinuses. Histopathology 1989;14:391–399.
Quincey, C, Banerjee, SS, Eyden, BP, Vasudev, KS. Lipid-rich rhabdomyosarcoma. J Clin Pathol 1994;47:280–282.
Zuppan, CW, Mierau, GW, Weeks, DA. Lipid-rich rhabdomyosarcoma–a potential source of diagnostic confusion. Ultrastruct Pathol 1991;15:353–359.
Mentzel, T, Katenkamp, D. Sclerosing, pseudovascular rhabdomyosarcoma in adults. Clinicopathological and immunohistochemical analysis of three cases. Virchows Arch 2000;436:305–311.
Folpe, AL, McKenney, JK, Bridge, JA, Weiss, SW. Sclerosing rhabdomyosarcoma in adults: report of four cases of a hyalinizing, matrix-rich variant of rhabdomyosarcoma that may be confused with osteosarcoma, chondrosarcoma, or angiosarcoma. Am J Surg Pathol 2002;26:1175–1183.
Chiles, MC, Parham, DM, Qualman, SJ, Teot, , Bridge, JA, Ullrich, F. Sclerosing rhabdomyosarcomas in children and adolescents: a clinicopathologic review of 13 cases from the Intergroup Rhabdomyosarcoma Study Group and Children's Oncology Group. Pediatr Dev Pathol 2004;7:583–594.
Parham, DM, Ellison, . Rhabdomyosarcomas in adults and children: an update. Arch Pathol Lab Med 2006;130: 1454–1465.
Kuhnen, C, Herter, P, Leuschner, I, Mentzel, T, Druecke, D, Jaworska, M. Sclerosing pseudovascular rhabdomyosarcoma-immunohistochemical, ultrastructural, and genetic findings indicating a distinct subtype of rhabdomyosarcoma. Virchows Arch 2006;449:572–578.
Croes, R, Debiec-Rychter, M, Cokelaere, K, Vos, R, Hagemeijer, A, Sciot, R. Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma. Virchows Arch 2005;446:64–67.
Kodet, R, Newton, WA, Hamoudi, AB, Asmar, L. Rhabdomyosarcomas with intermediate-filament inclusions and features of rhabdoid tumors: Light microscopic and immunohistochemical study. Am J Surg Pathol 1991;15:257–267.
Caputo, V, Repetti, ML, Grimoldi, N, Lazzarini, G, Masini, B, Radice, F. Cerebral rhabdomyosarcoma with rhabdoid tumor-like features. J Neurooncol 1997;32:81–86.
Hoot, AC, Russo, P, Judkins, AR, Perlman, EJ, Biegel, JA. Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 2004;28:1485–91.
Uno, K, Takita, J, Yokomori, K, Tanaka, Y, Ohta, S, Shimada, H. Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors. Genes Chromosomes Cancer 2002;34:33–41.
Newsham, I, Daub, D, Besnard-Guerin, C, Cavenee, W. Molecular sublocalization and characterization of the 11;22 translocation breakpoint in a malignant rhabdoid tumor. Genomics 1994;19:433–40.
Karnes, PS, Tran, TN, Cui, MY, Bogenmann, E, Shimada, H, Ying, KL. Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY,t(11;22) (p15.5;q11.23). Cancer Genet Cytogenet 1991;56:31–38.
Sabbioni, S, Veronese, A, Trubia, M, Taramelli, R, Barbanti-Brodano, G, Croce, CM. Exon structure and promoter identification of STIM1 (alias GOK), a human gene causing growth arrest of the human tumor cell lines G401 and RD. Cytogenet Cell Genet 1999;86:214–218.
DeCristofaro, MF, Betz, BL, Wang, W, Weissman, BE. Alteration of hSNF5/INI1/BAF47 detected in rhabdoid cell lines and primary rhabdomyosarcomas but not Wilms' tumors. Oncogene 1999;18:7559–7765.
Kumar, S, Perlman, E, Harris, CA, Raffeld, M, Tsokos, M. Myogenin is a specific marker for rhabdomyosarcoma: an immunohistochemical study in paraffin-embedded tissues. Mod Pathol 2000;13:988–993.
Mouton, SC, Rosenberg, HS, Cohen, MC, Drut, R, Emms, M, Kaschula, RO. Malignant ectomesenchymoma in childhood. Pediatr Pathol Lab Med 1996;16:607–624.
Edwards, V, Tse, G, Doucet, J, Pearl, R, Phillips, MJ. Rhabdomyosarcoma metastasizing as a malignant ectomesenchymoma. Ultrastruct Pathol 1999;23:267–273.
Pawel, BR, Hamoudi, AB, Asmar, L, Newton, WA, Ruymann, FB, Qualman, SJ. Undifferentiated sarcomas of children: pathology and clinical behavior–an Intergroup Rhabdomyosarcoma study. Med Pediatr Oncol 1997;29:170–180.
Brooks, JSJ. Immunohistochemistry in the differential diagnosis of soft tissue tumors. In Weiss, SW, Brooks, JSJ (eds): Soft Tissue Tumors, No 38 in the USCAP Monographs in Pathology series. Baltimore, Williams & Wilkins, 1996, p. 65
Azumi, N, Ben-Ezra, J, Battifora, H. Immunophenotypic diagnosis of leiomyosarcomas and rhabdomyosarcomas with monoclonal antibodies to muscle-specific actin and desmin in formalin-fixed tissue. Mod Pathol 1988;1:469–474.
Parham, DM, Reynolds, AB, Webber, BL. Use of monoclonal antibody 1H1, anticortactin, to distinguish normal and neoplastic smooth muscle cells: comparison with anti-alpha-smooth muscle actin and antimuscle-specific actin. Hum Pathol 1995;26:776–783.
Parham, DM, Dias, P, Kelly, DR, Rutledge, JC, Houghton, P. Desmin positivity in primitive neuroectodermal tumors of childhood. Am J Surg Pathol 1992;16:483–492.
Somerhausen, NS, Fletcher, CD. Diffuse-type giant cell tumor: clinicopathologic and immunohistochemical analysis of 50 cases with extraarticular disease. Am J Surg Pathol 2000;24:479–492.
Leader, M, Patel, J, Collins, M, Henry, K. Myoglobin: an evaluation of its role as a marker of rhabdomyosarcomas. Br J Cancer 1989;59:106–109.
Eusebi, V, Bondi, A, Rosai, J. Immunohistochemical localization of myoglobin in nonmuscular cells. Am J Surg Pathol 1984;8:51–55.
Dias, P, Dilling, M, Houghton, P. The molecular basis of skeletal muscle differentiation. Semin Diagn Pathol 1994; 11:3–14.
Dias, P, Parham, DM, Shapiro, DN, Webber, BL, Houghton, PJ. Myogenic regulatory protein (MyoD1) expression in childhood solid tumors: diagnostic utility in rhabdomyosarcoma. Am J Pathol 1990;137:1283–1291.
Cui, S, Hano, H, Harada, T, Takai, S, Masui, F, Ushigome, S. Evaluation of new monoclonal anti-MyoD1 and anti-myogenin antibodies for the diagnosis of rhabdomyosarcoma. Pathol Int 1999;49:62–8.
Engel, ME, Mouton, SC, Emms, M. Paediatric rhabdomyosarcoma: MyoD1 demonstration in routinely processed tissue sections using wet heat pretreatment (pressure cooking) for antigen retrieval. J Clin Pathol 1997;50:37–39.
Mukunyadzi, P, Dias, PHoughton, PJ: Comparison of MyoD1 immunostaining of pediatric tumors using frozen or paraffin-embedded sections. Appl Immunohistochem Molecul Morphol 1999;7:260.
Wang, NP, Marx, J, McNutt, MA, Rutledge, JC, Gown, AM. Expression of myogenic regulatory proteins (myogenin and MyoD1) in small blue round cell tumors of childhood. Am J Pathol 1995;147:1799–1810.
Ellison, DA, Adada, B, Qualman, SJ, Parham, DM. Melanotic neuroectodermal tumor of infancy: report of a case with myogenic differentiation. Pediatr Dev Pathol 2007;10:157–160.
Dias, P, Chen, B, Dilday, B, Palmer, H, Hosoi, H, Singh, S. Strong immunostaining for myogenin in rhabdomyosarcoma is significantly associated with tumors of the alveolar subclass. Am J Pathol 2000;156:399–408.
Morotti, RA, Nicol, KK, Parham, DM, Teot, , Moore, J, Hayes, J. An immunohistochemical algorithm to facilitate diagnosis and subtyping of rhabdomyosarcoma: the Children's Oncology Group experience. Am J Surg Pathol 2006;30:962–968.
Chen, B, Dias, P, Jenkins, JJ 3rd, Savell, VH, Parham, DM. Methylation alterations of the MyoD1 upstream region are predictive of subclassification of human rhabdomyosarcomas. Am J Pathol 1998;152:1071–1079.
Diller, L, Sexsmith, E, Gottlieb, A, Li, FP, Malkin, D. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. J Clin Invest 1995;95: 1606–1611.
Zhang, L, Zhan, Q, Zhan, S, Kashanchi, F, Fornace, AJ. p53 regulates human insulin-like growth factor II gene expression through active P4 promoter in rhabdomyosarcoma cells. DNA Cell Biol 1998;17:125–131.
Kilpatrick, SE, Teot, , Geisinger, KR, Martin, PL, Shumate, DK, Zbieranski, N. Relationship of DNA ploidy to histology and prognosis in rhabdomyosarcoma: Comparison of flow cytometry and image analysis. Cancer 1994;74:3227–3233.
Zen, L, Sommaggio, A, d'Amore, ES, Masiero, L, di Montezemolo, LC, Linari, A. Clinical relevance of DNA ploidy and proliferative activity in childhood rhabdomyosarcoma: a retrospective analysis of patients enrolled into the Italian Cooperative Rhabdomyosarcoma Study RMS88. J Clin Oncol 1997;15:1198–1205.
Walterhouse, D, Watson, A. Optimal management strategies for rhabdomyosarcoma in children: Optimal management strategies for rhabdomyosarcoma in children. Paediatr Drugs 2007;9:391–400.
d'Amore, ES, Tollot, M, Stracca-Pansa, V, Menegon, A, Meli, S, Carli, M. Therapy-associated differentiation in rhabdomyosarcomas. Mod Pathol 1994;7:69–75.
Arndt, CA, Hammond, S, Rodeberg, D, Qualman, S. Significance of persistent mature rhabdomyoblasts in bladder/prostate rhabdomyosarcoma: Results from IRS IV. J Pediatr Hematol Oncol 2006;28:563–567.
Smith, LM, Anderson, JR, Coffin, CM. Cytodifferentiation and clinical outcome after chemotherapy and radiation therapy for rhabdomyosarcoma (RMS). Med Pediatr Oncol 2002;38:398–404.
Coffin, CM, Rulon, J, Smith, L, Bruggers, C, White, FV. Pathologic features of rhabdomyosarcoma before and after treatment: a clinicopathologic and immunohistochemical analysis. Mod Pathol 1997;10:1175–1187.
Gu, W, Schneider, JW, Condorelli, G, Kaushal, S, Mahdavi, V, Nadal-Ginard, B. Interaction of myogenic factors and the retinoblastoma protein mediates muscle cell commitment and differentiation. Cell 1993;72:309–324.