Targeted next-generation sequencing of malignant peripheral nerve sheath tumor of the pterygopalatine fossa with intracranial metastatic recurrence

Targeted next-generation sequencing of malignant peripheral nerve sheath tumor of the... AbstractMalignant peripheral nerve sheath tumor (MPNST) is an uncommon neoplasm that rarely involves the head and neck region. Intracranial MPNSTs unrelated to cranial nerves are highly malignant tumors with poor overall survival, probably because of infiltrating growth into surrounding brain tissue. The pathogenesis of MPNST remains unclear. There are no conclusive explanations for the mechanisms underlying the initiation, progression, and metastasis of MPNST. In this paper, we describe a case of MPNST in the pterygopalatine fossa with intracranial metastatic recurrence and review related literatures. Meanwhile, targeted next-generation sequencing (NGS) revealed the presence of both a beta-catenin (CTNNB1) missense mutation p.Ser33Phe and a mediator complex subunit 12 (MED12) frameshift mutation p.Tyr1278fs in the recurrent intracranial tumor. Therapies that target CTNNB1 mutation, MED12 mutation, CTNNB1 activation, or Wnt pathway activation are worth future studying. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Medicine Wolters Kluwer Health

Targeted next-generation sequencing of malignant peripheral nerve sheath tumor of the pterygopalatine fossa with intracranial metastatic recurrence

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Publisher
Wolters Kluwer
Copyright
Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc.
ISSN
0025-7974
eISSN
1536-5964
D.O.I.
10.1097/MD.0000000000009636
Publisher site
See Article on Publisher Site

Abstract

AbstractMalignant peripheral nerve sheath tumor (MPNST) is an uncommon neoplasm that rarely involves the head and neck region. Intracranial MPNSTs unrelated to cranial nerves are highly malignant tumors with poor overall survival, probably because of infiltrating growth into surrounding brain tissue. The pathogenesis of MPNST remains unclear. There are no conclusive explanations for the mechanisms underlying the initiation, progression, and metastasis of MPNST. In this paper, we describe a case of MPNST in the pterygopalatine fossa with intracranial metastatic recurrence and review related literatures. Meanwhile, targeted next-generation sequencing (NGS) revealed the presence of both a beta-catenin (CTNNB1) missense mutation p.Ser33Phe and a mediator complex subunit 12 (MED12) frameshift mutation p.Tyr1278fs in the recurrent intracranial tumor. Therapies that target CTNNB1 mutation, MED12 mutation, CTNNB1 activation, or Wnt pathway activation are worth future studying.

Journal

MedicineWolters Kluwer Health

Published: Jan 1, 2018

References

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