The Philadelphia Chromosome, from Negative to Positive: A Case Report of Relapsed Acute Lymphoblastic Leukemia Following Allogeneic Stem Cell Transplantation
Elena-Cristina Marinescu,
Horia Bumbea,
Iuliana Iordan,
Ion Dumitru,
Dan Soare,
Cristina Ciufu,
Mihaela Gaman
Affiliations
Elena-Cristina Marinescu
Department of Methodology and Scientific Research, “Carol Davila” University of Medicine and Pharmacy, Eroilor Sanitari Boulevard, No. 8, 050474 Bucharest, Romania
Horia Bumbea
Department of Methodology and Scientific Research, “Carol Davila” University of Medicine and Pharmacy, Eroilor Sanitari Boulevard, No. 8, 050474 Bucharest, Romania
Iuliana Iordan
Department of Methodology and Scientific Research, “Carol Davila” University of Medicine and Pharmacy, Eroilor Sanitari Boulevard, No. 8, 050474 Bucharest, Romania
Ion Dumitru
Department of Hematology, Emergency University Hospital of Bucharest, Splaiul Independentei, No. 169, 050098 Bucharest, Romania
Dan Soare
Department of Methodology and Scientific Research, “Carol Davila” University of Medicine and Pharmacy, Eroilor Sanitari Boulevard, No. 8, 050474 Bucharest, Romania
Cristina Ciufu
Department of Methodology and Scientific Research, “Carol Davila” University of Medicine and Pharmacy, Eroilor Sanitari Boulevard, No. 8, 050474 Bucharest, Romania
Mihaela Gaman
Department of Hematology, Emergency University Hospital of Bucharest, Splaiul Independentei, No. 169, 050098 Bucharest, Romania
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. Despite having favorable prognostic factors at diagnosis, the disease relapsed early after allo-HSCT. The cytogenetic and molecular exams at relapse were positive for the Philadelphia chromosome, respectively for the Bcr-Abl transcript. What exactly led to the recurrence of this disease in a more aggressive cytogenetic and molecular form, although there were no predictive elements at diagnosis?
