Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma.
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.
Centre for Children's Cancer & Blood Disorders, Sydney Children's Hospital, Randwick, New South Wales, Australia.
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D000306:Adrenal Cortex Neoplasms / Q000235:genetics; D018268:Adrenocortical Carcinoma / Q000235:genetics; D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001254:Astrocytoma / Q000235:genetics / Q000601:surgery; D001943:Breast Neoplasms / Q000235:genetics; D002277:Carcinoma / Q000235:genetics; D019090:Case Management; D002675:Child, Preschool; D018389:Codon, Nonsense; D000075202:Contraindications; D004938:Esophageal Neoplasms / Q000235:genetics; D005260:Female; D016158:Genes, p53; D006801:Humans; D007866:Leg; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis*; D008113:Liver Neoplasms / Q000235:genetics; D008297:Male; D019042:Muscle Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery; D009381:Neoplasms, Radiation-Induced / Q000517:prevention & control; D016609:Neoplasms, Second Primary / Q000517:prevention & control; D010375:Pedigree; D018714:Radiotherapy, Adjuvant; D012186:Retroperitoneal Neoplasms / Q000235:genetics / Q000601:surgery; D018233:Rhabdomyosarcoma, Embryonal / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery; D012509:Sarcoma / Q000235:genetics / Q000601:surgery
D000970:Antineoplastic Agents; D018389:Codon, Nonsense