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CASE REPORT article

Front. Oncol.
Sec. Hematologic Malignancies
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1457832

Case report: An intriguing case of Philadelphia chromosome-positive acute lymphoblastic leukemia recurrence

Provisionally accepted
Nicolò Peccatori Nicolò Peccatori 1,2,3*Elena Chiocca Elena Chiocca 4Valentino Conter Valentino Conter 1Annalisa Tondo Annalisa Tondo 4Matilde Marzorati Matilde Marzorati 1Tommaso Casini Tommaso Casini 4Marinella Veltroni Marinella Veltroni 4Andrea Biondi Andrea Biondi 2,3Grazia Fazio Grazia Fazio 1,3
  • 1 Tettamanti Center, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
  • 2 Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
  • 3 School of Medicine and Surgery, University of Milano-Bicocca, Milano, Italy
  • 4 Division of Pediatric Oncology/Hematology, Children's Hospital A. Meyer IRCCS, Florence, Italy

The final, formatted version of the article will be published soon.

    The incorporation of tyrosine kinase inhibitors (TKIs) in the treatment of Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) led to significant improvement. However, in the pediatric setting the outcomes of Ph+ ALL are still inferior compared to other ALL subtypes even in the TKI era due to higher relapse rate. Herein, we report a very peculiar case of late extramedullary Ph+ ALL relapse in a child, characterized by lymphomatous presentation in the tonsils and lymphoid lineage switch. The diagnostic dilemma between the occurrence of a second malignant neoplasm and the recurrence of the primary disease is further discussed, highlighting the importance of molecular backtracking analysis. This case report emphasizes the high plasticity and polyclonal nature of ALL and expands the heterogeneity of possible clinical presentation of Ph+ ALL at relapse.

    Keywords: Acute Lymphoblastic Leukemia, Philadelphia (Ph)/BCR-ABL positive, e1a3, BCR::ABL1, Extramedullary relapse, second malignant neoplasm (SMN), T-cell lymphoblastic leukemia or lymphoma, Ig/TCR gene rearrangement

    Received: 01 Jul 2024; Accepted: 15 Jul 2024.

    Copyright: © 2024 Peccatori, Chiocca, Conter, Tondo, Marzorati, Casini, Veltroni, Biondi and Fazio. 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: Nicolò Peccatori, Tettamanti Center, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy

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