Systemic ALK-negative anaplastic large cell lymphoma with NPM1::TYK2 rearrangement.

Autor: Johnson M; Department of Pathology, University of Colorado Hospital, University of Colorado School of Medicine, 12605 East 16 Avenue, Aurora, CO, 80045, USA., Willard N; Department of Pathology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, 80045, USA., Pan Z; Department of Pathology, University of Colorado Hospital, University of Colorado School of Medicine, 12605 East 16 Avenue, Aurora, CO, 80045, USA. zenggang.pan@cuanschutz.edu.
Jazyk: angličtina
Zdroj: Journal of hematopathology [J Hematop] 2024 Dec; Vol. 17 (4), pp. 265-270. Date of Electronic Publication: 2024 Aug 29.
DOI: 10.1007/s12308-024-00604-8
Abstrakt: Anaplastic large cell lymphoma (ALCL) is a rare subtype of non-Hodgkin lymphoma, with most cases harboring ALK gene rearrangement (ALK + ALCL); however, 20-50% of ALCLs do not have the rearrangement (ALK- ALCL) but exhibit distinct genetic alterations. In this report, we present an unusual case of systemic ALK- ALCL with NPM1::TYK2 fusion. Diagnosis of this case was challenging prior to the NGS findings. A comprehensive panel of immunohistochemical and in-situ hybridization studies was conducted. FISH assays were utilized to target the rearrangements of DUSP22 and TP63 genes. Moreover, next-generation sequencing (NGS) assays were performed to detect clonal rearrangements of IGH and TRG genes, somatic mutations, and potential fusions. The lymphoma cells in this case are negative for all hematolymphoid markers stained, except for CD30 expression and focal and weak CD43 expression. However, NGS studies detected clonal TRG rearrangement and NPM1::TYK2 rearrangement, which aid in the diagnosis of ALK- ALCL. NPM1::TYK2 rearrangement is a rare genetic alteration that has been reported in rare cases of primary cutaneous ALCL, mycosis fungoides, and lymphomatoid papulosis. To the best of our knowledge, this is the first reported instance of such rearrangement in systemic ALK- ALCL.
Competing Interests: Declarations. Funding: This case study was not supported by any funding. Conflict of interest: The authors declare that they have no conflict of interest. Ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent: This is a retrospective study and only existing pathology slides and images were utilized. For this type of study, informed consent is not required. Consent for publication: No patient recruitment or communication was needed for this study. No identifiable patient information or image was included. For this type of study, consent for publication is not required.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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