Primary NTRK-rearranged spindle cell neoplasm of bone harboring an HMBOX1::NTRK3 gene fusion.
Female
Humans
Young Adult
Biomarkers, Tumor
/ genetics
Bone Neoplasms
/ genetics
Gene Fusion
Gene Rearrangement
Homeodomain Proteins
/ genetics
In Situ Hybridization, Fluorescence
Neoplasms, Connective and Soft Tissue
/ genetics
Oncogene Proteins, Fusion
/ genetics
Receptor Protein-Tyrosine Kinases
/ genetics
Receptor, trkA
/ genetics
NTRK-rearranged neoplasm
NTRK3
bone
differential diagnosis
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
revised:
28
01
2023
received:
24
12
2022
accepted:
01
02
2023
medline:
12
6
2023
pubmed:
7
2
2023
entrez:
6
2
2023
Statut:
ppublish
Résumé
The majority of neurotrophic tyrosine receptor kinase (NTRK) rearranged neoplasms occur either in the superficial or deep soft tissues of extremities or trunk. Occasionally, it arises in visceral organs. However, its occurrence as a primary osseous tumor has not been documented thus far. Herein, we describe a unique case of an NTRK rearranged neoplasm that presented as a primary bony lesion. The tumor occurred in a 21-year-old woman who presented with an increasing pain in the right lower extremity. Radiologic examinations revealed a destructive lytic lesion located in the lower portion of the right femur. Histologically, the tumor was composed of haphazard fascicles of monomorphic spindle cells displaying mild nuclear atypia and rare mitotic activity. Immunohistochemically, the tumor cells showed focal staining of pan-TRK and S100 protein. Fluorescence in situ hybridization analysis was performed with the utilization of break-apart probes for NTRK1/NTRK2/NTRK3 genes. An NTRK3 rearrangement was identified. Subsequent next-generation sequencing (RNA-seq) revealed HMBOX1exon6::NTRK3exon 14 fusion. Our study illustrates, albeit extremely rare, that NTRK-rearranged neoplasms can arise as a primary bone lesion. In addition, we describe a novel HMBOX1::NTRK3 fusion that has not been documented before.
Substances chimiques
Biomarkers, Tumor
0
HMBOX1 protein, human
0
Homeodomain Proteins
0
Oncogene Proteins, Fusion
0
Receptor Protein-Tyrosine Kinases
EC 2.7.10.1
Receptor, trkA
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
477-482Informations de copyright
© 2023 Wiley Periodicals LLC.
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