Whole genome profiling of rare pediatric thoracic tumors elucidates a YAP1::LEUTX fusion in an unclassified biphasic embryonal neoplasm.

Autor: Lukose G; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA., Al Assaad M; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Driskill JH; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA., Levine MF; Isabl Inc., New York, NY, USA., Gundem G; Isabl Inc., New York, NY, USA., Semaan A; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Wilkes DC; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Spigland NA; Department of Surgery, Division of Pediatric Surgery, Weill Cornell Medicine / NewYork-Presbyterian Hospital, New York, NY, USA., Medina-Martínez JS; Isabl Inc., New York, NY, USA., Sboner A; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Elemento O; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA; Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA., Jessurun J; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA., Mosquera JM; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA. Electronic address: jmm9018@med.cornell.edu.
Jazyk: angličtina
Zdroj: Pathology, research and practice [Pathol Res Pract] 2024 Dec; Vol. 264, pp. 155726. Date of Electronic Publication: 2024 Nov 19.
DOI: 10.1016/j.prp.2024.155726
Abstrakt: Malignant biphasic tumors of the lungs are rare, more so in the pediatric population. Here, we present the whole-genome characterization of a pleuropulmonary blastoma Type III and an unclassified biphasic thoracic embryonal neoplasm. The pleuropulmonary blastoma harbored pathogenic DICER1 germline and somatic mutations, and additional somatic variants in TP53 and BCOR. The other malignant tumor demonstrated a t(11;19) balanced translocation with a YAP1::LEUTX fusion that was confirmed by fluorescence in situ hybridization. No DICER1 germline or somatic mutation was present. YAP1 and LEUTX have been implicated in tumorigenesis of various neoplasms, and YAP1 fusion genes are an emerging oncogenic entity in a variety of malignancies. In this study we highlight the importance of whole-genome characterization of rare and unclassified tumors to identify biologic mechanisms and potential therapeutic targets.
Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Max F. Levine reports a relationship with Isabl, Inc that includes: employment. Juan S. Medina-Martinez reports a relationship with Isabl, Inc that includes: employment. Gunes Gundem reports a relationship with Isabl, Inc that includes: consulting or advisory. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 Elsevier GmbH. All rights reserved.)
Databáze: MEDLINE
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