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01-09-2017 | Original Paper

Head and Neck Rhabdomyosarcoma: Clinical and Pathologic Characterization of Seven Cases

Published in: Head and Neck Pathology | Issue 3/2017

Abstract

Head and neck rhabdomyosarcoma occurs frequently in children and adolescents, and has been well studied in that population. In contrast, it is rare in adults and is not as well characterized clinically and pathologically. Seven cases of adult rhabdomyosarcoma occurring in head and neck were retrieved from the archives of Department of Pathology and Division of Oral Pathology at University of Washington. Radiologic findings and clinical history, as well as pathologic findings from hematoxylin and eosin slides and immunohistochemistry for myogenic markers were reviewed. A total of seven cases of rhabdomyosarcoma (two embryonal, three alveolar and two pleomorphic subtype) were reviewed. Patient ages ranged from 18 to 57 years (median 21 years). Classic and unique histologic features for each subtype, including post-treatment morphologic changes, were identified. Clinical follow-up information was available for 4 patients. 3 of 4 patients experienced recurrence, including two with distant metastasis. One patient died of disease progression 41 months after presentation. Head and neck rhabdomyosarcoma in adults can manifest both classic and unique histologic features for each subtype. In addition, recurrence and distant metastasis were observed, suggesting aggressive clinical behavior regardless of subtype.

Perez EA, Kassira N, Cheung MC, Koniaris LG, Neville HL, Sola JE. Rhabdomyosarcoma in children: a SEER population based study. J Surg Res. 2011;170(2):e243–e51. doi:10.1016/j.jss.2011.03.001.CrossRefPubMed

Sultan I, Qaddoumi I, Yaser S, Rodriguez-Galindo C, Ferrari A. Comparing adult and pediatric rhabdomyosarcoma in the surveillance, epidemiology and end results program, 1973 to 2005: an analysis of 2,600 patients. J Clin Oncol. 2009;27(20):3391–7. doi:10.1200/JCO.2008.19.7483.CrossRefPubMed

Arul AS, Verma S, Arul AS, Verma R. Oral rhabdomyosarcoma-embryonal subtype in an adult: a rarity. J Nat Sci Biol Med. 2014;5(1):222–5. doi:10.4103/0976-9668.127347.CrossRefPubMedPubMedCentral

Arya K, Vij H, Vij R, Rao NN. Rhabdomyosarcoma of mandible: a diagnostic predicament. J Oral Maxillofac Pathol. 2011;15(3):320–5. doi:10.4103/0973-029X.86707.CrossRefPubMedPubMedCentral

Astekar M, Metgud R, Sharma P, Ramesh G. Oral alveolar rhabdomyosarcoma: a case report with immunohistochemical analysis. Clin Pract. 2012;2(1):e17. doi:10.4081/cp.2012.e17.CrossRefPubMedPubMedCentral

Lin XY, Wang Y, Yu JH, Liu Y, Wang L, Li QC, et al. Sclerosing rhabdomyosarcoma presenting in the masseter muscle: a case report. Diagn Pathol. 2013;8:18. doi:10.1186/1746-1596-8-18.CrossRefPubMedPubMedCentral

Zhou DN, Yang QQ, Li ZL, Pan ZY, Deng YF. Head and neck rhabdomyosarcoma: follow-up results of four cases and review of the literature. Int J Clin Exp Pathol. 2015;8(5):4277–83.PubMedPubMedCentral

Malempati S, Hawkins DS. Rhabdomyosarcoma: review of the Children’s Oncology Group (COG) Soft-Tissue Sarcoma Committee experience and rationale for current COG studies. Pediatr Blood Cancer. 2012;59(1):5–10. doi:10.1002/pbc.24118.CrossRefPubMedPubMedCentral

Furlong MA, Fanburg-Smith JC. Pleomorphic rhabdomyosarcoma in children: four cases in the pediatric age group. Ann Diagn Pathol. 2001;5(4):199–206. doi:10.1053/adpa.2001.26970.CrossRefPubMed

10.

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(6):595–603. doi:10.1038/modpathol.3880357.CrossRefPubMed

11.

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(10):1523–30. doi:10.1097/PAS.0b013e31822e0907.CrossRefPubMed

12.

Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993;3(2):113–7. doi:10.1038/ng0293-113.CrossRefPubMed

13.

Davis RJ, D’Cruz CM, Lovell MA, Biegel JA, Barr FG. Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res. 1994;54(11):2869–72.PubMed

14.

Scrable HJ, Witte DP, Lampkin BC, Cavenee WK. Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping. Nature. 1987;329(6140):645–7. doi:10.1038/329645a0.CrossRef

15.

Shern JF, Chen L, Chmielecki J, Wei JS, Patidar R, Rosenberg M, et al. Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors. Cancer Discov. 2014;4(2):216–31. doi:10.1158/2159-8290.CD-13-0639.CrossRefPubMedPubMedCentral

16.

Agaram NP, Chen CL, Zhang L, LaQuaglia MP, Wexler L, Antonescu CR. Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. Genes Chromosomes Cancer. 2014;53(9):779–87. doi:10.1002/gcc.22187.CrossRefPubMedPubMedCentral

17.

Kohsaka S, Shukla N, Ameur N, Ito T, Ng CK, Wang L, et al. A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. Nat Genet. 2014;46(6):595–600. doi:10.1038/ng.2969.CrossRefPubMedPubMedCentral

18.

Rekhi B, Upadhyay P, Ramteke MP, Dutt A. MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes. Mod Pathol. 2016. doi:10.1038/modpathol.2016.144.PubMedPubMedCentral

19.

Szuhai K, de Jong D, Leung WY, Fletcher CD, Hogendoorn PC. Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. J Pathol. 2014;232(3):300–7. doi:10.1002/path.4307.CrossRefPubMed

20.

Adams EJ, Green JA, Clark AH, Youngson JH. Comparison of different scoring systems for immunohistochemical staining. J Clin Pathol. 1999;52(1):75–7.CrossRefPubMedPubMedCentral

21.

Dias P, Chen B, Dilday B, Palmer H, Hosoi H, Singh S, et al. Strong immunostaining for myogenin in rhabdomyosarcoma is significantly associated with tumors of the alveolar subclass. Am J Pathol. 2000;156(2):399–408. doi:10.1016/S0002-9440(10)64743-8.CrossRefPubMedPubMedCentral

22.

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(9):1175–83.CrossRefPubMed

23.

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(12):1175–87.PubMed

24.

Kang Y, Pekmezci M, Folpe AL, Ersen A, Horvai AE. Diagnostic utility of SOX10 to distinguish malignant peripheral nerve sheath tumor from synovial sarcoma, including intraneural synovial sarcoma. Mod Pathol. 2014;27(1):55–61. doi:10.1038/modpathol.2013.115.CrossRefPubMed

25.

Wick MR, Swanson PE, Scheithauer BW, Manivel JC. Malignant peripheral nerve sheath tumor. An immunohistochemical study of 62 cases. Am J Clin Pathol. 1987;87(4):425–33.CrossRefPubMed

26.

Scotlandi K, Serra M, Manara MC, Benini S, Sarti M, Maurici D, et al. Immunostaining of the p30/32MIC2 antigen and molecular detection of EWS rearrangements for the diagnosis of Ewing’s sarcoma and peripheral neuroectodermal tumor. Hum Pathol. 1996;27(4):408–16.CrossRefPubMed

27.

Lucas DR, Bentley G, Dan ME, Tabaczka P, Poulik JM, Mott MP. Ewing sarcoma vs lymphoblastic lymphoma. A comparative immunohistochemical study. Am J Clin Pathol. 2001;115(1):11–7. doi:10.1309/K1XJ-6CXR-BQQU-V255.CrossRefPubMed

28.

Ozdemirli M, Fanburg-Smith JC, Hartmann DP, Azumi N, Miettinen M. Differentiating lymphoblastic lymphoma and Ewing’s sarcoma: lymphocyte markers and gene rearrangement. Mod Pathol. 2001;14(11):1175–82. doi:10.1038/modpathol.3880455.CrossRefPubMed

Title: Head and Neck Rhabdomyosarcoma: Clinical and Pathologic Characterization of Seven Cases
Publication date: 01-09-2017
Published in: Head and Neck Pathology / Issue 3/2017
Electronic ISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-016-0771-0

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