Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma

Pediatric Blood & Cancer
T TrahairR J Cohn

Abstract

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.

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Citations

Dec 14, 2011·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Louis P DehnerD Ashley Hill
Nov 9, 2010·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Sarah CurryMaureen O'Sullivan
Mar 5, 2008·Pediatric Blood & Cancer·Laura Sterian WardLigia Vera Montalli Assumpcao
Feb 1, 2011·Clinical Journal of Oncology Nursing·Melissa Parsons
Sep 3, 2013·Asian Pacific Journal of Cancer Prevention : APJCP·Wei-Ling ZhangTian Zhi
Oct 3, 2013·Asian Pacific Journal of Cancer Prevention : APJCP·Xin GeJian-Min Ma
Nov 1, 2007·Expert Opinion on Investigational Drugs·Konstantinos GiannitsasPetros Perimenis
Nov 23, 2019·International Journal of Molecular Sciences·Patrizia GaspariniOrazio Fortunato
Jun 27, 2019·Laryngoscope Investigative Otolaryngology·Melvin A AmbeleWillie F P van Heerden

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