Skip to main content
Erschienen in: Head and Neck Pathology 3/2017

28.11.2016 | Original Paper

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

verfasst von: Eleanor Chen, Robert Ricciotti, Neal Futran, Dolphine Oda

Erschienen in: Head and Neck Pathology | Ausgabe 3/2017

Einloggen, um Zugang zu erhalten

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.
Literatur
2.
Zurück zum Zitat 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 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
7.
Zurück zum Zitat 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 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
10.
Zurück zum Zitat 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 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
12.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
19.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
22.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
28.
Zurück zum Zitat 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 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
Metadaten
Titel
Head and Neck Rhabdomyosarcoma: Clinical and Pathologic Characterization of Seven Cases
verfasst von
Eleanor Chen
Robert Ricciotti
Neal Futran
Dolphine Oda
Publikationsdatum
28.11.2016
Verlag
Springer US
Erschienen in
Head and Neck Pathology / Ausgabe 3/2017
Elektronische ISSN: 1936-0568
DOI
https://doi.org/10.1007/s12105-016-0771-0

Weitere Artikel der Ausgabe 3/2017

Head and Neck Pathology 3/2017 Zur Ausgabe

Sine qua non Radiology-Pathology

Embryonal Rhabdomyosarcoma of the Oral Cavity

Sine qua non Radiology-Pathology

NUT Midline Carcinoma of the Nasal Cavity

PROCEEDINGS OF THE 2017 NORTH AMERICAN SOCIETY OF HEAD AND NECK PATHOLOGY COMPANION MEETING (SAN ANTONIO, TX)

Intestinal-Type Adenocarcinoma: Classification, Immunophenotype, Molecular Features and Differential Diagnosis

Neu im Fachgebiet Pathologie