Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

The Philadelphia Chromosome, from Negative to Positive: a Case Report of Relapsed Acute Lymphoblastic Leukemia Following Allogeneic Stem Cell Transplantation

Version 1 : Received: 1 March 2023 / Approved: 16 March 2023 / Online: 16 March 2023 (11:33:44 CET)

A peer-reviewed article of this Preprint also exists.

Marinescu, E.-C.; Bumbea, H.; Iordan, I.; Dumitru, I.; Soare, D.; Ciufu, C.; Gaman, M. The Philadelphia Chromosome, from Negative to Positive: A Case Report of Relapsed Acute Lymphoblastic Leukemia following Allogeneic Stem Cell Transplantation. Medicina 2023, 59, 671. Marinescu, E.-C.; Bumbea, H.; Iordan, I.; Dumitru, I.; Soare, D.; Ciufu, C.; Gaman, M. The Philadelphia Chromosome, from Negative to Positive: A Case Report of Relapsed Acute Lymphoblastic Leukemia following Allogeneic Stem Cell Transplantation. Medicina 2023, 59, 671.

Abstract

Relapsed acute lymphoblastic leukemia (ALL) represents a continuous challenge for the clinician. Despite recent advances in treatment, the risk of relapse remains significant. The clinical, biological, cytogenetic, and molecular characteristics may be different at the time of relapse. Current comprehensive genome sequencing studies suggest that most relapsed patients, especially those with late relapses, acquire new genetic abnormalities, usually within a minor clone that emerges after ALL diagnosis. We report the case of a 23-year-old young woman diagnosed with Philadelphia chromosome negative B-cell acute lymphoblastic leukemia. The patient underwent allogeneic stem cell transplantation (allo-HSCT) after complete remission. Although having favorable prognostic factors at diagnosis, the disease relapsed early after allo-HSCT. The cytogenetic and molecular exam at relapse was positive for the Philadelphia chromosome, respectively for the bcr-abl transcript. What exactly led to the relapse of this disease in a more aggressive cytogenetic and molecular form, although there were no predictive elements in the diagnosis of this relapse?

Keywords

acute lymphoblastic leukemia; Philadelphia chromosome; relapse; allogeneic stem cell transplantation

Subject

Medicine and Pharmacology, Clinical Medicine

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