Histiocyte-rich rhabdomyoblastic tumor: a report of two cases and a review of the differential diagnoses

Abstract

Histiocyte-rich rhabdomyoblastic tumor is a recently described skeletal muscle neoplasm of uncertain malignant potential, characterized by slow growth, a fibrous capsule containing peripheral lymphoid aggregates, spindle-to-epithelioid cells with a rhabdomyoblastic immunophenotype, and a dense histiocytic infiltrate. It most commonly arises within the muscles of the lower legs and trunk in young-to-middle–aged men, and initial reports suggest indolent behavior. In this paper, we present two additional cases of histiocyte-rich rhabdomyoblastic tumor with similar clinicopathologic features and discuss the differential diagnosis including its overlap with inflammatory leiomyosarcoma.

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References

  1. 1.

    Martinez AP, Fritchie KJ, Weiss SW, Agaimy A, Haller F, Huang HY, Lee S, Bahrami A, Folpe AL (2019) Histiocyte-rich rhabdomyoblastic tumor: rhabdomyosarcoma, rhabdomyoma, or rhabdomyoblastic tumor of uncertain malignant potential? A histologically distinctive rhabdomyoblastic tumor in search of a place in the classification of skeletal muscle neoplasms. Mod Pathol 32:446–457. https://doi.org/10.1038/s41379-018-0145-0

    CAS  Article  PubMed  Google Scholar 

  2. 2.

    Cavazzana AO, Schmidt D, Ninfo V, Harms D, Tollot M, Carli M, Treuner J, Betto R, Salviati G (1992) Spindle cell rhabdomyosarcoma. A prognostically favorable variant of rhabdomyosarcoma. Am J Surg Pathol 16(3):229–235. https://doi.org/10.1097/00000478-199203000-00002

    CAS  Article  PubMed  Google Scholar 

  3. 3.

    Mentzel T, Kuhnen C (2006) Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. Virchows Arch 449(5):554–560. https://doi.org/10.1007/s00428-006-0284-4

    Article  PubMed  Google Scholar 

  4. 4.

    Smith MH, Atherton D, Reith JD, Islam NM, Bhattacharyya I, Cohen DM (2017) Rhabdomyosarcoma, spindle cell/sclerosing variant: a clinical and Histopathological examination of this rare variant with three new cases from the oral cavity. Head Neck Pathol 11(4):494–500. https://doi.org/10.1007/s12105-017-0818-x

    Article  PubMed  PubMed Central  Google Scholar 

  5. 5.

    Ferrari A, Dileo P, Casanova M, Bertulli R, Meazza C, Gandola L, Navarria P, Collini P, Gronchi A, Olmi P, Fossati-Bellani F, Casali PG (2003) Rhabdomyosarcoma in adults. A retrospective analysis of 171 patients treated at a single institution. Cancer. 98(3):571–580. https://doi.org/10.1002/cncr.11550

    Article  PubMed  Google Scholar 

  6. 6.

    Turner JH, Richmon JD (2011) Head and neck rhabdomyosarcoma: a critical analysis of population-based incidence and survival data. Otolaryngol Head Neck Surg 145(6):967–973. https://doi.org/10.1177/0194599811417063

    Article  PubMed  Google Scholar 

  7. 7.

    Folpe AL, McKenney JK, Bridge JA, Weiss SW (2002) 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 26(9):1175–1183. https://doi.org/10.1097/00000478-200209000-00008

    Article  PubMed  Google Scholar 

  8. 8.

    Mentzel T, Katenkamp D (2000) Sclerosing, pseudovascular rhabdomyosarcoma in adults. Clinicopathological and immunohistochemical analysis of three cases. Virchows Arch 436(4):305–311. https://doi.org/10.1007/s004280050451

    CAS  Article  PubMed  Google Scholar 

  9. 9.

    Agaram NP, Chen CL, Zhang L, LaQuaglia MP, Wexler L, Antonescu CR (2014) Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. Genes Chromosomes Cancer 53:779–787

    CAS  Article  Google Scholar 

  10. 10.

    Szuhai K, de Jong D, Leung WY, Fletcher CD, Hogendoorn PC (2014) Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. J Pathol 232:300–307

    CAS  Article  Google Scholar 

  11. 11.

    Rekhi B, Upadhyay P, Ramteke MP, Dutt A (2016) MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes. Mod Pathol 29:1532–1540

    CAS  Article  Google Scholar 

  12. 12.

    Fanburg-Smith JC, Miettinen M (1999) Angiomatoid “malignant” fibrous histiocytoma: a clinicopathologic study of 158 cases and further exploration of the myoid phenotype. Hum Pathol 30:1336–1343

    CAS  Article  Google Scholar 

  13. 13.

    Cheah AL, Zou Y, Lanigan C, Billings SD, Rubin BP, Hornick JL, Goldblum JR (2019) ALK expression in angiomatoid fibrous Histiocytoma: a potential diagnostic pitfall. Am J Surg Pathol 43:93–101. https://doi.org/10.1097/PAS.0000000000001103

    Article  PubMed  Google Scholar 

  14. 14.

    Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD, Ladanyi M (2007) EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer 46:1051–1060

    CAS  Article  Google Scholar 

  15. 15.

    Merchant W, Calonje E, Fletcher CD (1995) Inflammatory leiomyosarcoma: a morphological subgroup within the heterogeneous family of so-called inflammatory malignant fibrous histiocytoma. Histopathology 27:525–532

    CAS  Article  Google Scholar 

  16. 16.

    Michal M, Rubin BP, Kazakov DV, Michalová K, Šteiner P, Grossmann P, Hájková V, Martínek P, Švajdler M, Agaimy A, Hadravský L, Kalmykova AV, Konishi E, Heidenreich F, Michal M (2020) Inflammatory leiomyosarcoma shows frequent co-expression of smooth and skeletal muscle markers supporting a primitive myogenic phenotype: a report of 9 cases with a proposal for reclassification as low-grade inflammatory myogenic tumor. Virchows Arch. https://doi.org/10.1007/s00428-020-02774-z

  17. 17.

    Chang A, Schuetze SM, Conrad EU 3rd et al (2005) So-called “inflammatory leiomyosarcoma”: a series of 3 cases providing additional insights into a rare entity. Int J Surg Pathol 13:185–195

    Article  Google Scholar 

  18. 18.

    Dal Cin P, Sciot R, Fletcher CD, Samson I, De Vos R, Mandahl N et al (1998) Inflammatory leiomyosarcoma may be characterized by specific near-haploid chromosome changes. J Pathol 185:112–111

    CAS  Article  Google Scholar 

  19. 19.

    Nord KH, Paulsson K, Veerla S, Wejde J, Brosjo O, Mandahl N et al (2012) Retained heterodisomy is associated with high gene expression in hyperhaploid inflammatory leiomyosarcoma. Neoplasia 14:807–812

    CAS  Article  Google Scholar 

  20. 20.

    Arbajian E, Köster J, Vult von Steyern F et al (2018) Inflammatory leiomyosarcoma is a distinct tumor characterized by near-haploidization, few somatic mutations, and a primitive myogenic gene expression signature. Mod Pathol 31:93–100. https://doi.org/10.1038/modpathol.2017.113

    CAS  Article  PubMed  Google Scholar 

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Melanie Bourgeau: wrote the manuscript, composed figures, and edited the manuscript.

Anthony P. Martinez: edited the manuscript, edited the figures and composed the table.

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Correspondence to Anthony P. Martinez.

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The original version of this article was revised: The family name of the co-author of the article mentioned above was incorrectly spelled. The correct name should have been “Melanie Bourgeau” instead of “Melanine Bourgeau”. The has been corrected.

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Bourgeau, M., Martinez, A.P. Histiocyte-rich rhabdomyoblastic tumor: a report of two cases and a review of the differential diagnoses. Virchows Arch (2020). https://doi.org/10.1007/s00428-020-02857-x

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Keywords

  • Histiocyte-rich rhabdomyoblastic tumor
  • Inflammatory leiomyosarcoma
  • Rhabdomyosarcoma
  • MyoD1
  • Smooth muscle tumors
  • Rhabdomyoma