诊断时伴有5号染色体长臂缺失的费城染色体阳性慢性髓性白血病
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis.
作者信息
Haidary Ahmed Maseh, Ahmed Zeeshan Ansar, Abdul-Ghafar Jamshid, Rahmani Soma, Noor Sarah, Erfani Farahnaz, Ahmad Maryam, Lakanwall Naeem, Malakzai Haider Ali, Ibrahimkhil Abdul Sami, Esmat Esmatullah, Haidari Mujtaba, Yousufzai Nimattullah, Sharif Samuel, Saqib Abdul Hadi
机构信息
Department of Pathology and Clinical Laboratory, French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan.
Department of Pathology and Diagnostic Laboratory, Agha Khan University (AKU), Karachi, Afghanistan.
出版信息
Mol Cytogenet. 2021 Mar 8;14(1):16. doi: 10.1186/s13039-021-00539-0.
BACKGROUND
Although, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myeloid leukemia (CML), by quick and easy enabling identification of pathognomonic Philadelphia chromosome (Ph).
CASE PRESENTATION
A 45 year old female presented with characteristic hematological features of CML in chronic phase; cytogenetic studies revealed the presence of the typical Ph and a deletion of almost entire long arm of a chromosome 5.
CONCLUSION
5q deletions have rarely been reported in CML. Those seen yet were either associated with tyrosine kinase inhibitor therapy or detected post allogeneic stem cell transplantation. To our knowledge, this is the first case of Ph positive CML accompanied by a 5q deletion.
背景
尽管分子遗传学分析在指导白血病治疗决策方面变得越来越重要，但染色体显带分析在慢性髓性白血病（CML）的诊断和监测中仍保留着至关重要的作用，因为它能快速简便地识别特征性的费城染色体（Ph）。
病例报告
一名45岁女性表现出慢性期CML的典型血液学特征；细胞遗传学研究显示存在典型的Ph染色体以及5号染色体几乎整个长臂的缺失。
结论
5号染色体长臂缺失（5q缺失）在CML中鲜有报道。既往所见的5q缺失要么与酪氨酸激酶抑制剂治疗有关，要么是在异基因干细胞移植后检测到的。据我们所知，这是首例伴有5q缺失的Ph阳性CML病例。
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