Patel Kalan, Syed Jawhar, Jagadish Ashwin, Vedantam Venkata, Daugherty Daniel
Internal Medicine, East Tennessee State University James H. Quillen College of Medicine, Johnson City, USA.
Cureus. 2025 Mar 26;17(3):e81220. doi: 10.7759/cureus.81220. eCollection 2025 Mar.
Chronic myeloid leukemia (CML) is a hematological malignancy commonly affecting older adults. This unusual case involves a 29-year-old male who presented with significant leukocytosis and thrombocytosis. He was later found to possess a mutation resulting in the fusion of the Abelson murine leukemia (ABL1) gene with the breakpoint cluster gene, resulting in the BCR-ABL1 translocation gene. This is also known as the Philadelphia chromosome and predisposed him to the malignancy. This atypical presentation highlights the importance of considering CML in younger patients, broadening differential diagnoses. Understanding such rare but possible occurrences provides insight into patient-centered treatment plans and potentially curative therapies specific to adolescents and young adults.
慢性粒细胞白血病(CML)是一种常见于老年人的血液系统恶性肿瘤。这个不寻常的病例涉及一名29岁男性,他表现出显著的白细胞增多和血小板增多。后来发现他携带一种突变,导致阿贝尔逊鼠白血病(ABL1)基因与断裂簇集基因融合,产生了BCR-ABL1易位基因。这也被称为费城染色体,使他易患这种恶性肿瘤。这种非典型表现凸显了在年轻患者中考虑CML的重要性,拓宽鉴别诊断范围。了解这种罕见但可能发生的情况有助于制定以患者为中心的治疗计划以及针对青少年和年轻成年人的潜在治愈性疗法。