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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Guilcher GM, Hendson G, Goddard K et al (2008) Successful treatment of a child with a primary intracranial rhabdomyosarcoma with chemotherapy and radiation therapy. J Neurooncol 86:79–82
Al-Gahtany M, Shroff M, Bouffet E et al (2003) Primary central nervous system sarcomas in children: clinical, radiological, and pathological features. Childs Nerv Syst 19:808–817
Ishi Y, Yamaguchi S, Iguchi A et al (2016) Primary pineal rhabdomyosarcoma successfully treated by high-dose chemotherapy followed by autologous peripheral blood stem cell transplantation: case report. J Neurosurg Pediatr 18:41–45
Foulkes WD, Priest JR, Duchaine TF (2014) DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 14:662–672
Robertson JC, Jorcyk CL, Oxford JT (2018) DICER1 Syndrome: DICER1 mutations in rare cancers. Cancers (Basel). https://doi.org/10.3390/cancers10050143
Liu C, Li D, Jiang J et al (2014) Analysis of molecular cytogenetic alteration in rhabdomyosarcoma by array comparative genomic hybridization. PLoS One 9:e94924
Nishimura R, Takita J, Sato-Otsubo A et al (2013) Characterization of genetic lesions in rhabdomyosarcoma using a high-density single nucleotide polymorphism array. Cancer Sci 104:856–864
Doros L, Yang J, Dehner L et al (2012) DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatr Blood Cancer 59:558–560
Foulkes WD, Bahubeshi A, Hamel N et al (2011) Extending the phenotypes associated with DICER1 mutations. Hum Mutat 32:1381–1384
Heravi-Moussavi A, Anglesio MS, Cheng S-WG et al (2012) Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. N Engl J Med 366:234–242
de Kock L, Boshari T, Martinelli F et al (2016) Adult-onset cervical embryonal rhabdomyosarcoma and DICER1 mutations. J Low Genit Tract Dis 20:e8–e10
de Kock L, Druker H, Weber E et al (2015) Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. Hum Pathol 46:917–922
de Kock L, Rivera B, Revil T et al (2017) Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. Br J Cancer 116:1621–1626
Tomiak E, de Kock L, Grynspan D et al (2014) DICER1 mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS). Pediatr Blood Cancer 61:568–569
Dehner LP, Jarzembowski JA, Hill DA (2012) Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. Mod Pathol 25:602–614
Nakano Y, Tomiyama A, Kohno T et al (2019) Identification of a novel KLC1-ROS1 fusion in a case of pediatric low-grade localized glioma. Brain Tumor Pathol 36:14–19
Koelsche C, Mynarek M, Schrimpf D et al (2018) Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta Neuropathol 136:327–337
Lee JC, Villanueva-Meyer JE, Ferris SP et al (2019) Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1. Acta Neuropathol 137:521–525
Bean GR, Anderson J, Sangoi AR et al (2019) DICER1 mutations are frequent in mullerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation. Mod Pathol 32:280–289
Das A, Roy P, Modi SK et al (2019) Germline DICER1-mutant intracranial sarcoma with dual chondroid and spindle cell morphology and pulmonary metastases treated with multimodal therapy. Pediatr Blood Cancer 66:e27744
de Kock L, Geoffrion D, Rivera B et al (2018) Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer 57:223–230
Dropcho EJ, Allen JC (1987) Primary intracranial rhabdomyosa: case report and review of the literature. J Neurooncol 5:139–150
Celli P, Cervoni L, Maraglino C (1998) Primary rhabdomyosarcoma of the brain: observation on a case with clinical and radiological evidence of cure. J Neurooncol 36:259–267
Pirillo V, Cipriano Cecchi P, Tripodi M et al (2011) Primary cerebral alveolar rhabdomyosarcoma in adult. Rare Tumors 3:e26
Hawkins C, Muller P, Bilbao JM (1999) April 1999–44 year old man with a bleeding intracerebral tumor. Brain Pathol 9:741–742
Mitsuhashi T, Mori K, Wada R et al (2002) Primary rhabdomyosarcoma associated with tumoral hemorrhage–case report. Neuro Med Chir (Tokyo) 42:73–77
Grebe HP, Steube D (2008) Primary cerebral rhabdomyosarcoma presenting as haemorrhagic stroke. Zentralbl Neurochir 69:93–95
Khalatbari MR, Hamidi M, Moharamzad Y (2013) Primary alveolar rhabdomyosarcoma of the brain with long-term survival. J Neurooncol 115:131–133
Benesch M, von Bueren AO, Dantonello T et al (2013) Primary intracranial soft tissue sarcoma in children and adolescents: a cooperative analysis of the European CWS and HIT study groups. J Neurooncol 111:337–345
Caporlingua F, Lapadula G, Antonelli M et al (2014) Pleomorphic rhabdomyosarcoma of the cerebellopontine angle in an adult: a review of literature. BMJ Case Rep. https://doi.org/10.1136/bcr-2013-203257
Lau SK, Cykowski MD, Desai S et al (2015) Primary rhabdomyosarcoma of the pineal gland. Am J Clin Pathol 143:728–733
Maher OM, Khatua S, Mukherjee D et al (2016) Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature. J Neurooncol 127:155–163
Nair P, Das KK, Srivastava AK et al (2017) Primary intracranial rhabdomyosarcoma of the cerebellopontine angle mimicking a vestibular schwannoma in a child. Asian J Neurosurg 12:109–111
Yoshida K, Miwa T, Akiyama T et al (2018) Primary intracranial rhabdomyosarcoma in the cerebellopontine angle resected after preoperative embolization. World Neurosurg 116:110–115
Desai KB, Mella D, Pan E (2019) An adult patient with rare primary intracranial alveolar rhabdomyosarcoma. Anticancer Res 39:3067–3070
Tomei G, Grimoldi N, Cappricci E et al (1989) Primary intracranial rhabdomyosarcoma: report of two cases. Childs Nerv Syst 5:246–249
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).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare no conflict of interest.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Electronic supplementary material
Below is the link to the electronic supplementary material.
Supplementary Table 1
List of 93 sequenced genes (DOCX 15 kb)
Rights and permissions
About this article
Cite this article
Sakaguchi, M., Nakano, Y., Honda-Kitahara, M. et al. Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a “spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant”. Brain Tumor Pathol 36, 174–182 (2019). https://doi.org/10.1007/s10014-019-00352-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10014-019-00352-z