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Choroid plexus tumors; management, outcome, and association with the Li–Fraumeni syndrome: The Children's Hospital Los Angeles (CHLA) experience, 1991–2010
Author(s) -
Gozali Alexa E.,
Britt Barbara,
Shane Lisa,
Gonzalez Ignacio,
Gilles Floyd,
McComb J. Gordon,
Krieger Mark D.,
Lavey Robert S.,
Shlien Adam,
Villablanca Judith G.,
ErdreichEpstein Anat,
Dhall Girish,
Jubran Rima,
Tabori Uri,
Malkin David,
Finlay Jonathan L.
Publication year - 2012
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.23349
Subject(s) - medicine , li–fraumeni syndrome , germline mutation , germline , choroid plexus papilloma , cancer , oncology , choroid plexus , mutation , genetics , gene , biology , central nervous system
Background Choroid plexus tumors (CPT) are rare, and predominate in early childhood. An association with the Li–Fraumeni syndrome (LFS) has been reported, but the biological and clinical implications of this association remain poorly defined. We have investigated the clinical features and overall survival of all CPT patients treated at Children's Hospital Los Angeles (CHLA) over a 20‐year period, with particular attention to the association of CPT with LFS. Methods A retrospective evaluation of the course of therapy and clinical outcome was undertaken on the 42 patients diagnosed with and treated for CPT at CHLA from January 1991 to December 2010. Any association with multiple primary tumors and family histories consistent with LFS was investigated in all patients. Results Six of the 42 patients (16.7%), demonstrated either phenotypic and/or genotypic characteristics consistent with LFS, with either a distinct family history of cancer, a synchronous diagnosis of a different type of cancer, or the subsequent development of metachronous cancers. Of 11 patients with choroid plexus carcinoma tested for TP53 germline mutations, four (36.4%) were positive. A single patient with a choroid plexus papilloma had phenotypic characteristics of LFS but tested negative for TP53. Conclusions Children with CPC appear to have a high frequency of TP53 germline mutations in association with LFS. This raises the question whether all children with CPC should be tested for TP53 germline mutations in order to institute screening to enhance early detection and treatment of subsequent cancers. Pediatr Blood Cancer 2012; 58: 905–909. © 2011 Wiley Periodicals, Inc.