Rapid Malignant Transformation of a Biopsy Proven Sporadic Soft Tissue Schwannoma to Spindle Cell MPNST With TP53 Mutation as an Early Event.

Journal: International Journal Of Surgical Pathology
Published:
Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) primarily originate from the neurofibromatosis 1 (NF1)- associated and/or sporadic neurofibromas. Reports of malignant transformation from a sporadic soft tissue schwannoma are rare. In most tumors documented in this context so far, the malignant component is an epithelioid MPNST with a strong and diffuse S100 positivity. We present a patient diagnosed with a sporadic soft tissue schwannoma on core biopsy, which underwent rapid malignant transformation to a spindle cell type MPNST. Somatic tumor profiling of the excision specimen revealed NF2 loss, TP53, NRAS, and subclonal RICTOR gene mutations. A retrospective immunohistochemical stain for p53 on the core biopsy demonstrated an aberrant staining pattern, indicating an early effect of TP53 in the process of malignant transformation.

Authors
Madhurya Ramineni, Veronica Ulici, David Hicks, Aaron Huber, Gregory Dieudonne, Xi Wang