Sbibih Yousra, Bensalah Mohammed, Slaoui Mounia, Saddari Abderrazak, Trougouty Nabiha, Berhili Abdelilah, Seddik Rachid
Faculty of Medicine and Pharmacy, University Mohammed First , Oujda, Morocco.
Laboratory of Hematology , Mohammed VI University Hospital, Oujda, Morocco.
J Med Case Rep. 2025 Jun 12;19(1):271. doi: 10.1186/s13256-024-04999-x.
We present the case of a 6-year-old Moroccan male patient of Berber ethnic origin, diagnosed with T-cell acute lymphoblastic leukemia, who exhibited a deletion of the 5q region.
The patient initially presented with classic symptoms of T-cell acute lymphoblastic leukemia, including bone pain, hepatosplenomegaly, and lymphadenopathy. Laboratory tests revealed anemia, hyperleukocytosis, and a high percentage of lymphoid blasts in both the blood and bone marrow. Immunophenotyping results confirmed that these blasts were of T-cell origin. Cytogenetic analysis identified a deletion of the long arm of chromosome 5 in a subset of the patient's cells.
The presence of a 5q deletion in pediatric T-cell acute lymphoblastic leukemia is an unusual finding and its prognostic significance may differ from that observed in myeloid leukemias. The implications of this cytogenetic anomaly in lymphoid malignancies remain unclear and warrant further investigation. Understanding the origins and effects of such chromosomal abnormalities in T-cell acute lymphoblastic leukemia could provide deeper insights into the disease's pathogenesis and contribute to more tailored therapeutic strategies.
我们报告一例6岁柏柏尔族摩洛哥男性患者，诊断为T细胞急性淋巴细胞白血病，其表现为5q区域缺失。
该患者最初表现出T细胞急性淋巴细胞白血病的典型症状，包括骨痛、肝脾肿大和淋巴结病。实验室检查显示贫血、白细胞增多症，血液和骨髓中淋巴细胞母细胞比例高。免疫表型分析结果证实这些母细胞起源于T细胞。细胞遗传学分析在患者的一部分细胞中鉴定出5号染色体长臂缺失。
小儿T细胞急性淋巴细胞白血病中存在5q缺失是一个不寻常的发现，其预后意义可能与髓系白血病中观察到的不同。这种细胞遗传学异常在淋巴恶性肿瘤中的影响仍不清楚，值得进一步研究。了解T细胞急性淋巴细胞白血病中此类染色体异常的起源和影响，可以更深入地了解该疾病的发病机制，并有助于制定更具针对性的治疗策略。
