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Updated: Aug 24, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Mapping the genetic features of T-ALL cases through simplified NGS approach
José María García-Aznar1, Sara Alonso2, David De Uña Iglesias3
1Healthincode, La Coruña, Spain; Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Spain.
Background:
Despite the irruption of massive sequencing technologies in clinical routine, the genetic diagnosis of T-cell acute lymphoblastic leukemia (T-ALL) continues to be based on traditional techniques. The integration of old and new technologies with diagnostic and prognostic purposes represents a major challenge.
Methods:
A High-Throughput Sequencing (HTS) approach was applied to analyze the genetic landscape of two patients diagnosed with T-ALL and one early T cell precursor acute leukemia. Orthogonal standard techniques were used to confirm the findings of NGS analysis.
Results:
By using a single test, a complete genetic map including 2 previously unreported missense mutations in BCL11B gene are reported. Cooperating oncogenic lesions including CDKN2A/B deletions, SIL-TAL1 rearrangement and FLT3 amplification were also captured by using a single test.
Conclusions:
HTS is a useful approach that allows simultaneously analyzing mutations, CNVs and the clonal repertoire in T-ALL patients. This approach may simplify the genetic assessment of ALL.
