The Incidence of Multiple Fusions in a Series of Pediatric Soft Tissue and Bone Tumors.
Pediatr Dev Pathol
; 27(1): 3-12, 2024.
Article
en En
| MEDLINE
| ID: mdl-37771132
ABSTRACT
BACKGROUND:
Next generation sequencing (NGS) has increased the detection of fusion genes in cancer. NGS has found multiple fusions in single tumor samples; however, the incidence of this in pediatric soft tissue and bone tumors (PSTBTs) is not well documented. The aim of this study is to catalogue the incidence of multiple fusions in a series of PSTBTs, and apply a modified gene fusion classification system to determine clinical relevance.METHODOLOGY:
RNA from 78 bone and soft tissue tumors and 7 external quality assessment samples were sequenced and analyzed using recently-described Metafusion (MF) software and classified using a modification of previously-published schema for fusion classification into 3 tiers 1, strong clinical significance; 2, potential clinical significance; and 3, unknown clinical significance.RESULTS:
One-hundred forty-five fusions were detected in 85 samples. Fifty-five samples (65%) had a single fusion and 30 (35%) had more than 1 fusion. No samples contained more than 1 tier 1 fusion. There were 40 tier 1 (28%), 36 tier 2 (24%), and 69 (48%) tier 3 fusions.CONCLUSIONS:
A significant percentage of PSTBTs harbor more than 1 fusion, and by applying a modified fusion classification scheme, the potential clinical relevance of such fusions can be determined.Palabras clave
Texto completo:
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Base de datos:
MEDLINE
Asunto principal:
Neoplasias de los Tejidos Blandos
/
Neoplasias Óseas
Tipo de estudio:
Incidence_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Pediatr Dev Pathol
Asunto de la revista:
PATOLOGIA
/
PEDIATRIA
Año:
2024
Tipo del documento:
Article