A case of Philadelphia chromosome positive acute lymphoblastic leukemia with partial trisomy of chromosome 1q involving chromosome 13 as the acceptor—A novel cytogenetic finding

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• 作者：Mohit Bharadwaj ; MS^a ; Anurag Sharma ; MD^a ; Rahul Katara ; PhD^a ; Dinesh Pradhan ; MD^b ; ^{drdineshpradhan@gmail.com} ; Raman Arora ; MD^a ; Reena Mittal ; MD^a ; Sambit K. Mohanty ; MD^a
• 关键词：Philadelphia chromosome ; Acute lymphoblastic leukemia ; Jumping translocation ; Trisomy of chromosome 1q
• 刊名：Pathology - Research and Practice
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：213
• 期：1
• 页码：72-74
• 全文大小：414 K
• 卷排序：213

文摘

The Philadelphia (Ph) chromosome is infrequently found in acute lymphoblastic leukemia and is associated with poor prognosis. We present a case of Ph chromosome positive B cell-acute lymphoblastic leukemia with the partial trisomy of chromosome 1q involving chromosome 13 as the acceptor which has never been reported in the English literature. Jumping translocation (JT) of chromosome 1 is rare and is associated with disease progression and poor prognosis. Herein, we report the first case of Ph chromosome positive B cell-acute lymphoblastic leukemia with coexisting jumping translocation of chromosome 1 leading to trisomy of chromosome 1q. Dismal prognosis associated with synchronous presence of a Ph chromosome and JT leading to a partial trisomy of chromosome 1q may carry significant prognostic and therapeutic implications. This may be an incidental finding and further studies with large patient cohorts and clinical outcomes are needed to definitively determine the predictive value of this cytogenetic finding.