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[Malignant Triton tumour: A case report].

Anaïs Brunet1, Oana Hermeziu2, Alain Luciani3

  • 1Département de pathologie et université Paris Est Créteil (UPEC), AP-HP, Hôpital Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France.

Annales De Pathologie
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PubMed
Summary

Malignant Triton tumors (MTT), a rare MPNST subtype, present diagnostic challenges, especially in sporadic cases. This report details a rare, aggressive MTT case in an elderly patient, highlighting diagnostic markers.

Keywords:
Malignant peripheral nerve sheath tumourMalignant triton tumourNeurofibromatose de type 1Neurofibromatosis type 1SarcomaSarcomeTumeur maligne des gaines nerveusesTumeur maligne triton

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Malignant Triton tumors (MTT) are rare subtypes of malignant peripheral nerve sheath tumors (MPNST).
  • MTT exhibit significant heterogeneity, posing diagnostic challenges, particularly in sporadic forms.
  • While often associated with neurofibromatosis type 1 (NF1), sporadic cases of MTT can occur.

Observation:

  • A case of a rapidly growing 9.2cm MTT in the left arm of a 74-year-old patient without NF1 is presented.
  • Histological examination revealed a spindle cell sarcoma with rhabdoid areas expressing myogenin.
  • Absence of neural crest markers was noted.

Findings:

  • Diagnosis of MPNST was supported by a significant loss of histone 3 tri-methylated lysine 27 (H3K27me3) expression, an epigenetic marker for this sarcoma group.
  • The presence of a heterologous rhabdomyosarcomatous component confirmed the MTT diagnosis.
  • Myogenin expression in rhabdoid cells further supported the diagnosis.

Implications:

  • This case underscores the diagnostic difficulties of MPNST and MTT, especially sporadic variants.
  • Loss of H3K27me3 expression serves as a potential diagnostic aid for MPNST.
  • Accurate diagnosis of MTT is crucial for appropriate patient management and prognosis.