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Acta Neuropathologica

, Volume 137, Issue 1, pp 175–177 | Cite as

ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors

  • Emmanuelle Uro-CosteEmail author
  • Julien Masliah-Planchon
  • Aurore Siegfried
  • Maud Blanluet
  • Sander Lambo
  • Marcel Kool
  • Thomas Roujeau
  • Sergio Boetto
  • Gilles Palenzuela
  • Anne-Isabelle Bertozzi
  • Marion Gambart
  • Isabelle Coupier
  • Isabelle Oliver-Petit
  • Lisa Golmard
  • Sophie Julia
  • Fréderique Savagner
  • Badreddine Mohand-Oumoussa
  • Arnault Tauziede-Espariat
  • Marie-Bernadette Delisle
  • Dominique Figarella-Branger
  • Franck Bourdeaut
  • Valérie Rigau
Correspondence
We report for the first time DICER1 mutations in two infantile cerebellar embryonal tumors not otherwise specified (NOS). Two girls, aged 11 months (case 1) and 8 months (case 2) presented with psychomotor delay. Both MRIs showed a midline posterior fossa tumor (Fig.  1a, b). After gross total resection of the tumor, case 1 was treated with two cycles of etoposide/carboplatin. The controlled MRI showed spinal and leptomeningeal metastasis. After a subtotal resection, case 2 was treated according to institutional protocol for infant with high-risk CNS PNET. MRI showed an increase of the residual mass during maintenance chemotherapy.

Notes

Acknowledgements

We thank the “Société Française des Cancers de l’Enfant” and «Enfants et Santé» for their support. We are grateful to the neuropathologists from the French rare tumor network (RENOCLIP) and to Sylvie Duclos and Karen Silva for their help. Samples were retrieved from the CHU de Montpellier tumor bank BB-0033-00031 and from the CHU de Toulouse tumor bank BB-0033-00014. We thank Josh Waterfall and Sarah Lesagere for their help to edit the manuscript.

Supplementary material

401_2018_1935_MOESM1_ESM.pdf (28 kb)
Supplementary Table 1: Listing of the 78 childhood cancer genes of the targeted gene sequencing panel (Illumina_TruSeq Custom Amplicon) (PDF 27 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Emmanuelle Uro-Coste
    • 1
    • 2
    Email author
  • Julien Masliah-Planchon
    • 3
    • 4
  • Aurore Siegfried
    • 1
    • 2
  • Maud Blanluet
    • 3
  • Sander Lambo
    • 5
    • 6
  • Marcel Kool
    • 5
    • 6
  • Thomas Roujeau
    • 7
  • Sergio Boetto
    • 1
  • Gilles Palenzuela
    • 7
  • Anne-Isabelle Bertozzi
    • 1
  • Marion Gambart
    • 1
  • Isabelle Coupier
    • 7
  • Isabelle Oliver-Petit
    • 1
  • Lisa Golmard
    • 3
  • Sophie Julia
    • 1
  • Fréderique Savagner
    • 1
    • 8
  • Badreddine Mohand-Oumoussa
    • 9
  • Arnault Tauziede-Espariat
    • 10
  • Marie-Bernadette Delisle
    • 1
  • Dominique Figarella-Branger
    • 11
    • 12
  • Franck Bourdeaut
    • 3
    • 4
  • Valérie Rigau
    • 7
    • 13
  1. 1.Departments of Pathology, Neurosurgery, Oncopediatry, Genetics and Molecular BiologyToulouse University HospitalToulouseFrance
  2. 2.INSERM U1037, Cancer Research Center of Toulouse (CRCT)ToulouseFrance
  3. 3.Departments of Genetics and of Oncopediatry and Young AdultsCurie InstituteParisFrance
  4. 4.INSERM U830, Laboratory of Translational Research in Pediatric Oncology, SIREDO Pediatric Oncology CenterCurie InstituteParisFrance
  5. 5.Hopp Children’s Cancer Center at the NCT (KiTZ)HeidelbergGermany
  6. 6.German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK)HeidelbergGermany
  7. 7.Departments of Pathology, Neurosurgery, Oncopediatry, and GeneticMontpellier University Medical CenterMontpellierFrance
  8. 8.Inserm UMR1048, Institut des Maladies Métaboliques et Cardiovasculaires (I2MC)ToulouseFrance
  9. 9.Plateforme Post-génomique P3S, Faculté de Médecine Pierre et Marie CurieParisFrance
  10. 10.Department of PathologySainte Anne University Medical CenterParisFrance
  11. 11.Department of PathologyMarseille University HospitalMarseilleFrance
  12. 12.Department of Pathology and Neuropathology, la Timone Hospital and UMR CNRS 7058, Neurophysiopathology Institute (INP)Aix-Marseille UniversityMarseilleFrance
  13. 13.Institute for Neuroscience of Montpellier (INM), INSERM U1051Montpellier University HospitalMontpellierFrance

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