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Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma
Author(s) -
Trahair T.,
Andrews L.,
Cohn R.J.
Publication year - 2007
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.20795
Subject(s) - medicine , rhabdomyosarcoma , natural history , incidence (geometry) , radiation therapy , malignancy , amputation , surgery , sarcoma , physics , pathology , optics
A contemporaneous presentation of a second breast cancer in a mother and an extremity rhabdomyosarcoma (RMS) in her daughter led to the diagnosis of the Li Fraumeni syndrome (LFS). Although the association between LFS and RMS in young patients is well recognised 1 there are no guidelines as to how this knowledge should influence the optimal management of these patients. After reviewing the literature about the natural history of the LFS 2, the incidence of second malignancy (SMN) in RMS survivors 3–6 and the management of extremity RMS 7–9, we are concerned that contemporary RMS treatment, combining non‐mutilating surgery with chemoradiotherapy, may be associated with an excessive SMN risk in LFS patients with advanced RMS. We question whether treatment should be individualised and, where possible and acceptable to the family, measures such as amputation should be the considered to attain local control for LFS patients with RMS as this will avoid the need for local radiotherapy without compromising long‐term function and quality of life 10. Pediatr Blood Cancer 2007;48:345–348. © 2006 Wiley‐Liss, Inc.