Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler. J Pediatr Hematol Oncol 2024 Nov 01;46(8):442-445
Date
10/08/2024Pubmed ID
39378380DOI
10.1097/MPH.0000000000002955Scopus ID
2-s2.0-85206886186 (requires institutional sign-in at Scopus site) 1 CitationAbstract
Spindle cell tumors in the pediatric population are uncommonly reported. This case discusses an 18-month-old who presented initially with unilateral ptosis and was found to have an orbital spindle cell tumor. Pathology evaluation of the tissue was extensive with nonspecific morphologic and immunohistochemical features. Molecular testing demonstrated an MN1::TAF3 fusion on RNA sequencing, which has not been previously described in the literature in association with spindle cell neoplasms. This case highlights the challenging nature of classifying and treating a tumor with a novel fusion.
Author List
White J, Becktell K, Hopp A, Liberio N, Liu YJ, Hadjiev JAuthors
Kerri Becktell MD Associate Professor in the Pediatrics department at Medical College of WisconsinAmanda Hopp MD Assistant Professor in the Pathology and Laboratory Medicine department at Medical College of Wisconsin
Nicole D. Liberio MD Assistant Professor in the Pediatrics department at Medical College of Wisconsin
Jennifer M. Watson MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
FemaleHumans
Infant
Male
Oncogene Proteins, Fusion
Orbital Neoplasms
Sarcoma
Trans-Activators
Tumor Suppressor Proteins
