Familial Cancer

, Volume 18, Issue 3, pp 353–358 | Cite as

Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots

  • Celine Chiu
  • Stefanie Loth
  • Michaela Kuhlen
  • Sebastian Ginzel
  • Jörg Schaper
  • Thorsten Rosenbaum
  • Torsten Pietsch
  • Arndt Borkhardt
  • Jessica I. HoellEmail author
Short Communication


Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation therapy and chemotherapy. We report the case of a boy, who was born to consanguineous parents. Prominently, he had multiple café-au-lait spots. At the age of 3 years he was diagnosed with a high-risk metastatic medulloblastoma. The patient died only 11 months after diagnosis of a fulminant relapse presenting as meningeal and spinal dissemination. Whole-exome sequencing of germline DNA was employed to detect the underlying mutation for this putative cancer syndrome presenting with the combination of medulloblastoma and skin alterations. After screening all possible homozygous gene SNVs, we identified a mutation of SON, an essential protein in cell cycle regulation and cell proliferation, as the most likely genetic cause.


Medulloblastoma Skin alteration Cancer syndrome SON mutation 



The authors thank Michael Gombert for sequencing.


Celine Chiu was funded by the Düsseldorf School of Oncology (funded by the Comprehensive Cancer Center Düsseldorf/Deutsche Krebshilfe and the Medical Faculty HHU Düsseldorf) and Jessica I. Hoell by Deutsche Forschungsgemeinschaft (DFG, HO 5456/3-1).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  1. 1.Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, University Children’s HospitalHeinrich-Heine UniversityDüsseldorfGermany
  2. 2.Department of Diagnostic and Interventional Radiology, Medical FacultyUniversity of DuesseldorfDüsseldorfGermany
  3. 3.Department of PediatricsSana Kliniken DuisburgDuisburgGermany
  4. 4.Institute of Neuropathology, DGNN Brain Tumor Reference Center, University of BonnDZNE German Center for Neurodegenerative DiseasesBonnGermany

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