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Pediatr Blood Cancer. 2018 Jun;65(6):e26999. doi: 10.1002/pbc.26999. Epub 2018 Feb 8.

The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort.

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Swabian Children's Cancer Center, Children's Hospital, Klinikum Augsburg, Augsburg, Germany.
Pediatric care and research Center, Institute Curie, PSL Research University, Paris, France.
National Scientific and Practical Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Moscow, Russian Federation.
Institute of Human Genetics, University of Ulm & University Hospital of Ulm, Ulm, Germany.
Institute of Neuropathology, University Hospital Muenster, Muenster, Germany.
Clinic for Particle Therapy, West German Cancer Center (WTZ), University Hospital Essen, Essen, Germany.
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Institute of Biostatistics and Clinical Research, University of Münster, Muenster, Germany.
Department of Pediatric Oncology and Hematology, Saarland University of Hospital Saarland, Saarland, Germany.
Department of Pediatric Hematology and Oncology, University Children's Hospital Muenster, University of Muenster, Muenster, Germany.



Congenital rhabdoid tumors are rare and highly aggressive malignancies. In general, patients are considered to be incurable and are often treated using an exclusive, primarily palliative approach.


A prospective and retrospective collection of 42 patients from the European Rhabdoid Registry (EU-RHAB), France and Moscow (2006-2016) diagnosed within the first 28 days of life was evaluated. Genetic and clinical reference evaluation included SMARCB1 and/or SMARCA4 (fluorescence-in-situ-hybridization, multiplex ligation-dependent probe amplification, and sequencing) mutation analysis and immunohistochemistry. Forty-eight percent (20/42) of patients were treated according to the EU-RHAB therapy, 7% (3/42) according to the pilot approach Rhabdoid 2007, 33% (14/42) with individual schedules, and 12% (5/42) received no chemotherapy at all.


Forty point five percent (17/42) of patients presented with extracranial rhabdoid tumors, 33.5% (14/42) with rhabdoid tumors of the central nervous system (atypical teratoid/rhabdoid tumor), and the remainder 26% (11/42) demonstrated synchronous tumors. Metastases at diagnosis were present in 52% (22/42) of patients. A germline mutation was detected in 66% (25/38) and was associated with a poor prognosis (4.2 ± 4.1% vs. 48 ± 16.4%, P < 0.00005). A gross total resection (GTR) was realized in 17%. A GTR (42.9 ± 18.7% vs. 4.9 ± 4.3%, P = 0.04), therapy according to a standardized approach (20.9 ± 8.7% vs. 7.1 ± 6.9 %, P = 0.0018), and a complete remission (CR) (23.6 ± 9.8% vs. 1.3 ± 3.6%, P = 0.04) were significant prognostic factors.


The management of patients with congenital rhabdoid tumors requires a major multidisciplinary effort. In many instances, cure is not possible and a palliative approach is warranted. Our data indicate a positive impact of standardized therapeutic approaches on survival, making a tailored approach toward affected patients and their families mandatory.


AT/RT; EU-RHAB Registry; MRT; congenital tumor; rhabdoid tumor

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