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231226s2022 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2022.109151
|2 doi
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|a pubmed24n1159.xml
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|a (DE-627)NLM347850790
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|a (NLM)36270471
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|a (PII)S1521-6616(22)00232-7
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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1 |
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|a García-Aznar, José María
|e verfasserin
|4 aut
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| 245 |
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|a Mapping the genetic features of T-ALL cases through simplified NGS approach
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|c 2022
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 25.11.2022
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|a Date Revised 26.12.2022
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.
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|a 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
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|a 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
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|a 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
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|a 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
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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|a BCL11B
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|a CNVs
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|a NGS
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|a T-ALL
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|a VDJ-rearrangement
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| 650 |
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|a SIL-TAL1 fusion protein, human
|2 NLM
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| 650 |
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|a Oncogene Proteins, Fusion
|2 NLM
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| 700 |
1 |
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|a Alonso, Sara
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Iglesias, David De Uña
|e verfasserin
|4 aut
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| 700 |
1 |
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|a de Ugarriza, Paula López
|e verfasserin
|4 aut
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| 700 |
1 |
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|a López, Carmen Álvarez
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Balbín, Milagros
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Del Castillo, Teresa Bernal
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 245(2022) vom: 08. Dez., Seite 109151
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
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|g volume:245
|g year:2022
|g day:08
|g month:12
|g pages:109151
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|u http://dx.doi.org/10.1016/j.clim.2022.109151
|3 Volltext
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