Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler

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.

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Publication Details

Journal
Journal of Pediatric Hematology/Oncology
Published
2024-10-07
DOI
https://doi.org/10.1097/mph.0000000000002955
Citations
1
Primary Topic
Sarcoma Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.42
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article

Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler

Jennifer Hadjiev, Yajuan J. Liu, Amanda Hopp, Kerri Becktell et al.
1 citations
Journal of Pediatric Hematology/Oncology
Sarcoma Diagnosis and Treatment
0.42
article

Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler

Jennifer Hadjiev, Yajuan J. Liu, Amanda Hopp, Kerri Becktell, Nicole Liberio, Jesse White
article en
1 citations

Abstract

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.

Journal of Pediatric Hematology/OncologyVol. 46(8)
University of Washington (US), Medical College of Wisconsin (US), Pediatrics and Genetics (US)
Good health and well-being
Openalex Percentile: Top 32%
Sarcoma Diagnosis and Treatment
0.42
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