2026-08-29T09:16:49Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/76742025-05-20T08:37:55Zcom_20.500.12105_2052com_20.500.12105_2051com_20.500.12105_2173col_20.500.12105_19608col_20.500.12105_19597
Repisalud
author
López-Nieva, Pilar
author
Fernandez-Navarro, Pablo L
author
Graña Castro, Osvaldo
author
Andrés-León, Eduardo
author
Santos, Javier
author
Villa-Morales, María
author
Cobos-Fernández, María Ángeles
author
González-Sánchez, Laura
author
Malumbres Martinez, Marcos
author
Salazar-Roa, Maria
author
Fernández-Piqueras, José
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Comunidad de Madrid (España)
funder
Asociación Española Contra el Cáncer
funder
Fundación Ramón Areces
funder
Banco Santander
2019-05-24T08:59:12Z
2019-05-24T08:59:12Z
2019-03-26
Sci Rep. 2019 ;9(1):5179
10.1038/s41598-019-41675-3
2045-2322
2045-2322
Scientific reports
30914738
http://hdl.handle.net/20.500.12105/7674
Fusions transcripts have been proven to be strong drivers for neoplasia-associated mutations, although their incidence in T-cell lymphoblastic lymphoma needs to be determined yet. Using RNA-Seq we have selected 55 fusion transcripts identified by at least two of three detection methods in the same tumour. We confirmed the existence of 24 predicted novel fusions that had not been described in cancer or normal tissues yet, indicating the accuracy of the prediction. Of note, one of them involves the proto oncogene TAL1. Other confirmed fusions could explain the overexpression of driver genes such as COMMD3-BMI1, LMO1 or JAK3. Five fusions found exclusively in tumour samples could be considered pathogenic (NFYG-TAL1, RIC3-TCRBC2, SLC35A3-HIAT1, PICALM MLLT10 and MLLT10-PICALM). However, other fusions detected simultaneously in normal and tumour samples (JAK3-INSL3, KANSL1-ARL17A/B and TFG-ADGRG7) could be germ-line fusions genes involved in tumour-maintaining tasks. Notably, some fusions were confirmed in more tumour samples than predicted, indicating that the detection methods underestimated the real number of existing fusions. Our results highlight the potential of RNA-Seq to identify new cryptic fusions, which could be drivers or tumour-maintaining passenger genes. Such novel findings shed light on the searching for new T-LBL biomarkers in these haematological disorders.
eng
GENE
LANDSCAPE
GENERATION
IDENTIFICATION
TFG
Detection of novel fusion-transcripts by RNA-Seq in T-cell lymphoblastic lymphoma
research article
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