Case report: Eosinophilia as a rare symptom and primary sign of acute lymphoblastic leukemia with translocation (5;14)(q31;q32).
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BACKGROUND: Acute B-lymphoblastic leukemia (B-ALL) with t(5;14)(q31;q32) is a very rare subtype of B-ALL, accounting for <1% of cases and often presenting with significant eosinophilia but without peripheral blasts. This condition is driven by a t(5;14)(q31;q32) that juxtaposes the immunoglobulin heavy-chain (IGH) enhancer on chromosome 14q32 with the interleukin-3 (IL-3) gene on 5q31. This results in increased IL-3 production and a characteristic eosinophilia. While this translocation is primarily seen in pediatric patients, it rarely occurs in adults. CASE REPORT: We report two cases of a young adult aged 20-25 years and a 30-year-old man with 25 diagnosis of common B-ALL/B-lymphoblastic lymphoma. In one case, the only clinical symptom was back pain, but laboratory results showed leukocytosis with prominent neutrophilia and eosinophilia. The other case presented with fever, chills, diarrhea, vomiting, and myalgia, accompanied by leukocytosis and eosinophilia. No peripheral blasts were detected. FISH analysis revealed rearrangement of the IGH locus (14q32) in both patients, and karyotyping confirmed a t(5;14)(q31;q32). Both patients were treated according to the GMALL (German Multicenter Study Group for Adult Acute Lymphoblastic Leukemia) recommendations, including allogeneic stem cell transplantation (ASCT). ASCT was performed due to high-risk disease in one case and an early relapse during first-line treatment in the other. During 3 years of follow-up, the first patient remained relapse-free and in good general condition; the second patient died due to septic shock on day 16 after ASCT. CONCLUSION: B-ALL with t(5;14)(q31;q32) is an extremely rare entity in adults and may present with pronounced eosinophilia in the absence of peripheral blasts, posing a significant diagnostic challenge. As eosinophilia is often interpreted as reactive, this leukemia subtype may be overlooked or diagnosed late. Therefore, unexplained eosinophilia should prompt early bone marrow investigation with flow cytometry and cytogenetic analysis, even when peripheral blood findings do not suggest acute leukemia.