Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation.
We report a 3-year-old boy with a malignant triton tumor (MTT) involving the left masticator space with local invasion and regional lymph node metastasis. Family history and detection of a novel germline TP53 mutation confirmed his diagnosis of Li Fraumeni syndrome (LFS). MTT has not been previously described in association with LFS. This case along with a comprehensive review of the literature, illustrate the importance of both somatic and germline TP53 mutations in the pathogenesis MTT. The tumor could not be resected and he was successfully treated with intensive induction chemotherapy, irradiation, and high-dose chemotherapy with autologous stem cell transplantation.
Chao
Mwe Mwe
MM
Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, University of Michigan Health System, Ann Arbor, Michigan 48109-0914, USA. mmchao@umich.edu
Levine
John E
JE
Ruiz
Robert E
RE
Kohlmann
Wendy K
WK
Bower
Matthew A
MA
Petty
Elizabeth M
EM
Mody
Rajen J
RJ
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D018317:Nerve Sheath Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009669:Nose Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D014182:Transplantation, Autologous; D016896:Treatment Outcome; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D016159:Tumor Suppressor Protein p53