1 | INTRODUCTION
Malignant
triton tumors (MTTs) are a rare rhabdomyosarcoma-like differentiated
subtype in malignant peripheral nerve sheath tumors (MPNSTs), accounting
for 5% of all MPNSTs.1 As many as 50% of MPNSTs
occur in patients with neurofibromatosis type 1
(NF-1).2 MTTs are aggressive, often difficult to
completely remove, and the prognosis are poor, which may be related to
certain
gene
mutations.3 It is known that individuals with
mutations in the NF1 tumor suppressor gene will develop into NF- I and
MPNSTs. However, few cytogenetic studies specific to MTTs have been
performed. At present, the relationship between the genetic test results
of MTTs and clinical manifestations is not completely clear. Here, we
report a rare case of neck MTTs with mutations in NF1 and FANCD2 genes,
without clinical manifestations of NF- I. As far as we know, this is the
first case of MTT with mutations in the NF1 and FANCD2 genes, without
clinical manifestations of NF- 1.