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Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a “spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant”

  • Maki Sakaguchi
  • Yoshiko Nakano
  • Mai Honda-Kitahara
  • Masashi Kinoshita
  • Shingo Tanaka
  • Masahiro Oishi
  • Kazuhiro Noguchi
  • Masaki Fukuda
  • Hideaki Maeba
  • Takuya Watanabe
  • Yutaka Hayashi
  • Hiroko Ikeda
  • Hiroshi Minato
  • Koichi Ichimura
  • Takayuki Nojima
  • Mitsutoshi NakadaEmail author
Case Report

Abstract

Rhabdomyosarcoma is the most common soft-tissue sarcoma affecting children and adolescents. It is defined as a malignant neoplasm characterized by morphologic, immunohistochemical, ultrastructural, or molecular genetic evidence of primary skeletal muscle differentiation, usually in the absence of any other pattern of differentiation. Primary intracranial rhabdomyosarcoma (PIRMS) is an extremely rare neoplasm, with only 60 cases reported in the literature, and generally has poor prognosis with an overall survival of only 9.1 months. The DICER1 gene encodes an RNA endoribonuclease that plays a key role in gene expression regulation through the production of small RNAs. Herein, we report two cases of PIRMS with somatic DICER1 mutation showing morphological and immunohistochemical evidence of primary skeletal muscle differentiation; the two cases share common clinical features, including young age, supratentorial tumor, and onset of intratumoral bleeding. Although methylation profiling was not performed, both cases shared clinical and pathological characteristics in common with recently proposed methylation entity “spindle cell sarcoma with rhabdomyosarcoma-like features, DICER1 mutant (SCS-RMSlike-DICER1)’’. Our cases provide further evidence of the link between primary intracranial sarcoma and DICER1 mutation which may form a distinct entity.

Keywords

Rhabdomyosarcoma DICER1 SCS-RMSlike-DICER1 Supratentorial Hematoma 

Notes

Acknowledgements

We thank the advice on pathological diagnosis by Dr. Takanori Hirose (Department of Pathology, Kobe University; patient #1) and Dr. Junko Hirato (Department of Pathology, Gunma University; patient #2), and technical assistance by Ms. Erika Komura (Kanazawa University) and Ms. Yuko Hibiya (National Cancer Center Research Institute).

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interest.

Supplementary material

10014_2019_352_MOESM1_ESM.docx (15 kb)
Supplementary Table 1 List of 93 sequenced genes (DOCX 15 kb)

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Copyright information

© The Japan Society of Brain Tumor Pathology 2019

Authors and Affiliations

  • Maki Sakaguchi
    • 1
    • 2
  • Yoshiko Nakano
    • 3
  • Mai Honda-Kitahara
    • 3
  • Masashi Kinoshita
    • 1
  • Shingo Tanaka
    • 1
  • Masahiro Oishi
    • 1
  • Kazuhiro Noguchi
    • 4
  • Masaki Fukuda
    • 4
  • Hideaki Maeba
    • 4
  • Takuya Watanabe
    • 5
  • Yutaka Hayashi
    • 5
  • Hiroko Ikeda
    • 2
  • Hiroshi Minato
    • 6
  • Koichi Ichimura
    • 3
  • Takayuki Nojima
    • 2
  • Mitsutoshi Nakada
    • 1
    Email author
  1. 1.Department of Neurosurgery, Graduate School of Medical ScienceKanazawa University HospitalKanazawaJapan
  2. 2.Department of Diagnostic PathologyKanazawa UniversityKanazawaJapan
  3. 3.Division of Brain Tumor Translational ResearchNational Cancer Center Research InstituteTokyoJapan
  4. 4.Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health SciencesKanazawa UniversityKanazawaJapan
  5. 5.Department of NeurosurgeryIshikawa Prefectural Central HospitalKanazawaJapan
  6. 6.Department of Diagnostic PathologyIshikawa Prefectural Central HospitalKanazawaJapan

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