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CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1502782
Next-generation sequencing guides diagnosis and treatment in a complex presentation of ALK-positive anaplastic large-cell lymphoma: a case report
Provisionally accepted
Tejasvini Vaid 1
Thomas S Gunning 2 Rachel Cohen 3
Alexandra Della Pia 4
Jason Voss 4
Melinda Weber 4
Andrew Pecora 2,4
Lori Leslie 2,4 Tatyana Feldman 2,4
Andre Goy 2,4
Maher Albitar 5
Andrew Ip 2,4*- 1 Department of Medical Oncology and Hematology, Medanta The Medicity Hospital, Gurgaon, Haryana, India
- 2 Department of Oncology, Hackensack Meridian School of Medicine, Nutley, NJ, United States
- 3 American Medical Program, Tel Aviv University, Tel Aviv, Tel Aviv, Israel
- 4 John Theurer Cancer Center, Hackensack Meridian Health, Hackensack, NJ, United States
- 5 Genomic Testing Cooperative, Irvine, CA, United States
Next-generation sequencing (NGS) technology is being increasingly utilized in the management of cancer patients due to its diagnostic, therapeutic, and prognostic value, and potential to inform use of targeted therapy. We report a case wherein performing NGS testing proved to be a critical component in diagnosis and therapeutic decision making. The case was of a patient who presented with diffuse osteolytic bone lesions that on biopsy showed an undifferentiated malignancy. A diagnosis of poorly differentiated sarcoma was made at an outside institution and carboplatin and paclitaxel was initiated. However, NGS testing revealed a TRAF1::ALK translocation, which led to a revised diagnosis of stage IV ALK-positive anaplastic large cell lymphoma (ALCL), a curable cancer. The patient then started treatment with brentuximab vedotin, cyclophosphamide, doxorubicin, etoposide, and prednisone followed by autologous stem cell transplantation consolidation, given the very extensive disease at presentation. She remains in continued complete remission at 28 months. In this case, NGS was essential in establishing the correct diagnosis and selection of therapy in high-risk ALCL. NGS testing should be a routine component of the oncology patient workup to complement standard diagnostic modalities.
Keywords: Lymphoma, NGS, Next-generation sequencing, targeted therapy, case report
Received: 27 Sep 2024; Accepted: 26 Feb 2025.
Copyright: © 2025 Vaid, Gunning, Cohen, Della Pia, Voss, Weber, Pecora, Leslie, Feldman, Goy, Albitar and Ip. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Andrew Ip, Department of Oncology, Hackensack Meridian School of Medicine, Nutley, NJ, United States
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