PAX7 Expression in Rhabdomyosarcoma, Related Soft Tissue Tumors, and Small Round Blue Cell Neoplasms

Gregory W. Charville, Sushama Varma, Erna Forgó, Sarah N. Dumont, Eduardo Zambrano, Jonathan Trent, Alexander J. Lazar, Matt van de Rijn

Research output: Contribution to journalArticle

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Abstract

Rhabdomyosarcoma, the most common soft tissue malignancy of childhood, is a morphologically variable tumor defined by its phenotype of skeletal muscle differentiation. The diagnosis of rhabdomyosarcoma often relies in part on the identification of myogenic gene expression using immunohistochemical or molecular techniques. However, these techniques show imperfect sensitivity and specificity, particularly in scant tissue biopsies. Here, we expand the toolkit for rhabdomyosarcoma diagnosis by studying the expression of PAX7, a transcriptional regulator of mammalian muscle progenitor cells implicated in the pathogenesis of rhabdomyosarcoma. Immunohistochemical analysis of tissue microarrays using a monoclonal anti-PAX7 antibody was used to characterize PAX7 expression in 25 non-neoplastic tissues, 109 rhabdomyosarcomas, and 697 small round blue cell or other soft tissue tumors. Among non-neoplastic tissues, PAX7 was specifically expressed in adult muscle progenitor cells (satellite cells). In embryonal rhabdomyosarcoma, PAX7 expression was positive in 52 of 63 cases (83%), negative in 9 of 63 cases (14%), and focal in 2 of 63 cases (3%). PAX7-positive embryonal rhabdomyosarcoma cases included several showing focal or negative myogenin expression. PAX7 expression in alveolar rhabdomyosarcoma was positive in 6 of 31 cases (19%), negative in 14 of 31 cases (45%), and focal in 11 of 31 cases (36%). In addition, PAX7 was expressed in 5 of 7 pleomorphic rhabdomyosarcomas (71%) and 6 of 8 spindle cell rhabdomyosarcomas (75%). Among histologic mimics, only Ewing sarcoma showed PAX7 expression (7/7 cases, 100%). In contrast, expression of PAX7 was not seen in the large majority (688/690, 99.7%) of examined cases of other soft tissue tumors, small round blue cell neoplasms, and leukemias/lymphomas. In summary, immunohistochemical analysis of PAX7 expression may be a useful diagnostic tool in the assessment of skeletal muscle differentiation in human tumors.

Original languageEnglish (US)
JournalAmerican Journal of Surgical Pathology
DOIs
StateAccepted/In press - Aug 11 2016

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Rhabdomyosarcoma
Neoplasms
Embryonal Rhabdomyosarcoma
Muscle Cells
Skeletal Muscle
Stem Cells
Alveolar Rhabdomyosarcoma
Tissue Array Analysis
Myogenin
Ewing's Sarcoma
Anti-Idiotypic Antibodies
Lymphoma
Leukemia
Monoclonal Antibodies
Phenotype
Biopsy
Gene Expression
Sensitivity and Specificity

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

Charville, G. W., Varma, S., Forgó, E., Dumont, S. N., Zambrano, E., Trent, J., ... van de Rijn, M. (Accepted/In press). PAX7 Expression in Rhabdomyosarcoma, Related Soft Tissue Tumors, and Small Round Blue Cell Neoplasms. American Journal of Surgical Pathology. https://doi.org/10.1097/PAS.0000000000000717

PAX7 Expression in Rhabdomyosarcoma, Related Soft Tissue Tumors, and Small Round Blue Cell Neoplasms. / Charville, Gregory W.; Varma, Sushama; Forgó, Erna; Dumont, Sarah N.; Zambrano, Eduardo; Trent, Jonathan; Lazar, Alexander J.; van de Rijn, Matt.

In: American Journal of Surgical Pathology, 11.08.2016.

Research output: Contribution to journalArticle

Charville, Gregory W. ; Varma, Sushama ; Forgó, Erna ; Dumont, Sarah N. ; Zambrano, Eduardo ; Trent, Jonathan ; Lazar, Alexander J. ; van de Rijn, Matt. / PAX7 Expression in Rhabdomyosarcoma, Related Soft Tissue Tumors, and Small Round Blue Cell Neoplasms. In: American Journal of Surgical Pathology. 2016.
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