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Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred with gain of SMARCB1 exon 6
  • +9
  • Uwe Kordes,
  • Victor Mautner,
  • Florian Oyen,
  • Christian Hagel,
  • Christian Hartmann,
  • Michael Heuser,
  • Michael Frühwald,
  • Martin Hasselblatt,
  • Kathrin Oehl-Huber,
  • Reiner Siebert,
  • Reinhard Schneppenheim,
  • Ulrich Schüller
Uwe Kordes
University Medical Center Hamburg Eppendorf
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Victor Mautner
Universitätsklinikum Hamburg-Eppendorf
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Florian Oyen
University Hospital Medical Center
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Christian Hagel
University Medical Center Hamburg Eppendorf
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Christian Hartmann
Institute of Pathology, Section of Neuropathology
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Michael Heuser
Hannover Medical School
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Michael Frühwald
University Hospital Augsburg
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Martin Hasselblatt
University Hospital Münster
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Kathrin Oehl-Huber
Ulm University and Ulm University Medical Center
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Reiner Siebert
Ulm University and Ulm University Medical Center
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Reinhard Schneppenheim
University Hospital Medical Center
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Ulrich Schüller
Universitatsklinikum Hamburg Eppendorf Institut fur Neuropathologie
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Abstract

We report on a long-term survivor of an atypical teratoid/rhabdoid tumor (ATRT-TYR) as an index patient, who carries a SMARCB1 exon 6 gain inherited from his father. The father was diagnosed with an unusual sequence of a myxopapillary INI1-negative ependymoma and a relapsing BRAF V600 wild type hairy-cell leukemia. He has two yet healthy sisters aged 33 and 38 years carrying the same variant, from which one had lost an infant to a malignant brain tumor. This family highlights the existence of RTPS1-associated SMARCB1 germline alterations with reduced penetrance and extends the spectrum of involved diseases

Peer review status:ACCEPTED

12 Feb 2021Submission Checks Completed
12 Feb 2021Assigned to Editor
12 Feb 2021Submitted to Pediatric Blood & Cancer
15 Feb 2021Reviewer(s) Assigned
10 Mar 2021Review(s) Completed, Editorial Evaluation Pending
11 Mar 2021Editorial Decision: Revise Major
27 May 20211st Revision Received
27 May 2021Submission Checks Completed
27 May 2021Assigned to Editor
30 May 2021Review(s) Completed, Editorial Evaluation Pending
30 May 2021Editorial Decision: Accept