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Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)
Author(s) -
Kordes Uwe,
Bartelheim Kerstin,
Modena Piergiorgio,
Massimino Maura,
Biassoni Veronica,
Reinhard Harald,
Hasselblatt Martin,
Schneppenheim Reinhard,
Frühwald Michael C.
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24793
Subject(s) - medicine , outcome (game theory) , pediatrics , oncology , mathematics , mathematical economics
Abstract Rhabdoid tumor predisposition syndrome is usually associated with shorter survival in patients with malignant rhabdoid tumors regardless of anatomical origin. Here we present four children harboring truncating heterozygous SMARCB1/INI1 germline mutations with favorable outcome. All four patients received multi‐modality treatment, three according to therapeutic recommendations by the EU‐RHAB registry, two without radiotherapy, and mean event‐free survival accounts for 7 years. In conclusion, intensive treatment with curative intent is justified for children with rhabdoid tumors even if an underlying rhabdoid predisposition syndrome is demonstrated. Pediatr Blood Cancer 2014;61:919–921. © 2013 Wiley Periodicals, Inc.