Sarda Parimal, Parikh Himil, Shah Sandip, Trivedi Deepa
Hemato-Oncology Clinic (HOC) Vedanta, Ground floor, Niramaya Complex, Rajpath Rangoli Road, Ahmedabad, Gujarat, 390054, India.
J Hematop. 2025 Jul 14;18(1):33. doi: 10.1007/s12308-025-00649-3.
Hypereosinophilia is uncommon in the pediatric population and may be associated with either primary or secondary conditions. In a very small proportion of cases (less than 1%), it forms part of the initial presentation of acute lymphoblastic leukemia (ALL). More frequently, hypereosinophilia appears before overt leukemia symptoms develop, which can delay diagnosis and place affected children at increased risk due to the lack of early intervention. We recently reviewed a case of 6½-year-old female who presented with hypereosinophilia and no circulating blasts. Bone marrow aspirate showed significant prominence of eosinophils and their precursors with ~ 2% blasts on morphology. Bone marrow biopsy was received for review and showed a significant burden of immature cells/blasts which on immunohistochemistry was revealed as B-acute lymphoblastic leukemia (B-ALL). Cytogenetics by fluorescence in situ hybridization (FISH) showed IGH rearrangement while the routine karyotyping as well as next-generation sequencing (NGS) were both negative for any genetic aberrancy. This case highlights the importance of a thorough marrow evaluation in pediatric eosinophilia and discusses the challenges in identifying cryptic rearrangements that are not evident on standard cytogenetic and molecular panels.
嗜酸性粒细胞增多症在儿科人群中并不常见，可能与原发性或继发性疾病有关。在极少数病例（不到1%）中，它是急性淋巴细胞白血病（ALL）初始表现的一部分。更常见的情况是，嗜酸性粒细胞增多症在明显的白血病症状出现之前就已出现，这可能会延迟诊断，并由于缺乏早期干预而使患病儿童面临更高的风险。我们最近回顾了一例6岁半的女性病例，该患者表现为嗜酸性粒细胞增多症且外周血无原始细胞。骨髓穿刺显示嗜酸性粒细胞及其前体细胞显著增多，形态学上约有2%的原始细胞。收到骨髓活检结果进行复查，显示有大量未成熟细胞/原始细胞，免疫组化显示为B淋巴细胞急性白血病（B-ALL）。荧光原位杂交（FISH）细胞遗传学检测显示IGH重排，而常规核型分析以及下一代测序（NGS）均未发现任何基因异常。该病例强调了对儿科嗜酸性粒细胞增多症进行全面骨髓评估的重要性，并讨论了在识别标准细胞遗传学和分子检测中不明显的隐匿重排方面所面临的挑战。
