Venkataswamy E, Nargund Ashwini R, Prabhudesai Shilpa, Patil Geeta V, Chandra Rao J, Veldore Vidya H, Patil Shekar, Verma Amit, Sahoo Rashmita, Ajaikumar B S
Department of Molecular Biology, Triesta Reference Laboratory, HealthCare Global Enterprises Ltd, Bangalore, India.
Indian J Hum Genet. 2012 Sep;18(3):349-51. doi: 10.4103/0971-6866.108028.
Del(5)(q) is a common chromosomal abnormality with favourable prognosis in Myelodysplastic Syndrome (MDS) and Acute myeloid leukemia (AML). However, del(5)(q) is also seen rarely in Acute lymphoblastic leukemia (ALL) and its significance remains poorly understood. We present here, a case report of diagnosis of an adult 75 year old patient of ALL with a cytogenetic abnormality of del(5)(q32). His clinical features, morphology and immunophenotyping findings were suggestive of T-ALL. Relevant literature has been reviewed and discussed.
5号染色体长臂缺失（del(5)(q)）是骨髓增生异常综合征（MDS）和急性髓系白血病（AML）中常见的染色体异常，预后良好。然而，5号染色体长臂缺失在急性淋巴细胞白血病（ALL）中也很少见，其意义仍知之甚少。我们在此报告一例75岁成年ALL患者的诊断病例，该患者存在5号染色体长臂q32缺失的细胞遗传学异常。其临床特征、形态学和免疫表型结果提示为T细胞急性淋巴细胞白血病（T-ALL）。我们已对相关文献进行了回顾和讨论。
