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双费城染色体:小儿B淋巴细胞急性白血病中一种罕见且独特的异常情况。

Double Philadelphia chromosome: a rare and sole abnormality in pediatric B-acute lymphoblastic leukemia.

作者信息

Padmakumar Amritha, Thankamony Priyakumari, Vasudevan Jayasudha Arundhathi, Gopinath Preethi, Chandraprabha Vineetha Radhakrishnan, Devi Akhila Raj Thampirajan Vimala, Anitha Geetha Raj John, Sreelatha Mahitha Mohanan, Padmakumar Devipriya, Sreedharan Hariharan

机构信息

Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, University of Kerala, Thiruvananthapuram, India.

Department of Pediatric Oncology, Regional Cancer Centre, Thiruvananthapuram, India.

出版信息

3 Biotech. 2024 Mar;14(3):75. doi: 10.1007/s13205-024-03935-6. Epub 2024 Feb 14.

Abstract

The present study describes a 7-year-old male child who had attended the Pediatric Oncology Clinic of the Regional Cancer Centre, Thiruvananthapuram, Kerala, India, and was pathologically confirmed to have B-Acute Lymphoblastic Leukemia (B-ALL). Conventional cytogenetics analysis at diagnosis showed the presence of a double Philadelphia chromosome and the karyotype of the case was 47, , (9;22)(q34;q11.2), + der(22)t(9;22). FISH, done as a molecular confirmation of the translocation, (9;22)(q34;q11.2), and this case showed an additional fusion signal that confirms the presence of double Ph. As far as we are aware, this represents the initial and only  occurrence of an abnormality report regarding the double Philadelphia chromosome in pediatric B-ALL within India. The double Philadelphia chromosome in B-ALL has a very poor prognosis despite aggressive treatment with chemotherapy. This study reveals the importance of conventional and molecular cytogenetic analysis in risk stratification and prognosis prediction of pediatric B-ALL. The risk stratification based on the conventional and molecular cytogenetic analysis may be taken into consideration for deciding the treatment strategy for each patient.

摘要

本研究描述了一名7岁男童,他曾就诊于印度喀拉拉邦特里凡得琅地区癌症中心的儿科肿瘤诊所,经病理确诊为B型急性淋巴细胞白血病(B-ALL)。诊断时的常规细胞遗传学分析显示存在双费城染色体,该病例的核型为47, ,(9;22)(q34;q11.2), + der(22)t(9;22)。作为对(9;22)(q34;q11.2)易位的分子确认进行了荧光原位杂交(FISH),该病例显示出额外的融合信号,证实了双Ph染色体的存在。据我们所知,这是印度国内关于儿科B-ALL中双费城染色体异常报告的首例且唯一病例。尽管采用积极的化疗治疗,B-ALL中的双费城染色体预后非常差。本研究揭示了常规和分子细胞遗传学分析在儿科B-ALL风险分层和预后预测中的重要性。在决定每位患者的治疗策略时,可考虑基于常规和分子细胞遗传学分析的风险分层。

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Acute lymphoblastic leukaemia.急性淋巴细胞白血病。
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Genetic Basis of Acute Lymphoblastic Leukemia.急性淋巴细胞白血病的遗传基础
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