SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation

Maud Blanluet; Julien Masliah-Planchon; Irina Giurgea; Franck Bielle; Elodie Girard; Mamy Andrianteranagna; Stéphane Clemenceau; Christine Bourneix; Lydie Burglen; Diane Doummar; Audrey Rapinat; Badreddine Mohand Oumoussa; Olivier Ayrault; Celio Pouponnot; David Gentien; Gaëlle Pierron; Olivier Delattre; François Doz; Franck Bourdeaut

doi:10.1007/s00401-019-01983-4

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation

Acta Neuropathol. 2019 Apr;137(4):675-678. doi: 10.1007/s00401-019-01983-4. Epub 2019 Mar 8.

Authors

Maud Blanluet¹, Julien Masliah-Planchon^{1

2}, Irina Giurgea^{3

4}, Franck Bielle⁵, Elodie Girard⁶, Mamy Andrianteranagna², Stéphane Clemenceau⁷, Christine Bourneix¹, Lydie Burglen⁸, Diane Doummar⁹, Audrey Rapinat¹⁰, Badreddine Mohand Oumoussa¹¹, Olivier Ayrault^{12

13}, Celio Pouponnot^{12

13}, David Gentien¹⁰, Gaëlle Pierron^{1

2}, Olivier Delattre^{1

2

14}, François Doz^{2

15}, Franck Bourdeaut^{16

17}

Affiliations

¹ Unité de Génétique Somatique, Institut Curie, Paris, France.
² Pediatric Oncology Department, SIREDO Oncology Centre (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), Institut Curie, 26, rue d'Ulm, 75248, Paris Cedex 05, France.
³ UF de Génétique Moléculaire, Hôpital Armand Trousseau, APHP, Paris, France.
⁴ Sorbonne Université, INSERM, UMR S933, Paris, France.
⁵ Departement de Neuropathologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.
⁶ INSERM U900, Institut Curie, Paris, France.
⁷ Neurochirurgie, GH Pitie-Salpêtrière-Charles Foix, APHP, Paris, France.
⁸ Centre de Référence Maladies Rares "Malformations et Maladies Congénitales du Cervelet", et Département de Génétique, Hôpital Armand Trousseau, GHUEP, APHP, Paris, France.
⁹ Département de Neuropédiatrie, Hôpital Armand Trousseau, APHP, Paris, France.
¹⁰ Translational Research Department, Genomics Platform, Institut Curie, PSL Research University, Paris, 75248, France.
¹¹ Sorbonne Université, Inserm, UMS Omique, Plateforme Post-Génomique de la Pitié-Salpêtrière, P3S, 75013, Paris, France.
¹² Université Paris Sud, Université Paris-Saclay, CNRS, UMR 3347, INSERM U1021, Orsay, France.
¹³ Institut Curie, PSL Research University, CNRS UMR, INSERM, Orsay, France.
¹⁴ Inserm U830, PSL Université, Institut Curie, Paris, France.
¹⁵ Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
¹⁶ Pediatric Oncology Department, SIREDO Oncology Centre (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), Institut Curie, 26, rue d'Ulm, 75248, Paris Cedex 05, France. [email protected].
¹⁷ Inserm U830, PSL Université, Institut Curie, Paris, France. [email protected].

PMID: 30848346
DOI: 10.1007/s00401-019-01983-4

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Brain Stem Neoplasms / genetics*
Brain Stem Neoplasms / pathology
Facies
Female
Humans
Hyperventilation / genetics*
Hyperventilation / pathology
Intellectual Disability / genetics*
Intellectual Disability / pathology
Medulloblastoma / genetics*
Medulloblastoma / pathology

Supplementary concepts

Pitt-Hopkins syndrome