Acute Lymphoblastic Leukemia Characterized by Rare BCR::FGFR1 Translocation: A Case Report With Literature Review.

CASE: We present the case of a 60-year-old male patient with a common B-cell acute lymphoblastic leukemia (ALL) who carried the rare t(8; 22)(p11; q11) BCR::FGFR1 chromosomal translocation.

BACKGROUND/

OBJECTIVES

The presence of the t(8; 22)(p11; q11) BCR::FGFR1 translocation, identified by cytogenetics including Fluorescence In Situ Hybridization (FISH) is known for its association with aggressive disease. Given the dismal prognosis, an early search for a stem cell donor was initiated.

METHODS

The patient was treated according to the German Multicenter ALL (GMALL) Study Group consensus recommendations. The disease was refractory to the first cycle of induction chemotherapy. However, after the second induction, cytological remission was achieved. Nevertheless, minimal residual disease (MRD) positivity persisted (IGH rearrangement detected by PCR) after the first consolidation therapy, giving indication for a stem cell transplantation (SCT).

RESULTS

Thirty days post-transplant, no MRD was detected, and complete chimerism was measured for the months following transplantation. However, the patient died in the context of severe graft-versus-host disease and infectious complications 6 months after the SCT.

CONCLUSIONS

This case highlights the importance of detailed molecular analysis in the initial diagnostics of ALL. Identification of specific chromosomal translocations can provide critical insights for risk assessment and aid decision-making in intensify therapeutic approaches.

TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03011372, NCT04659616.