Shahrabi Saeid, Khodadi Elahe, Saba Fakhredin, Shahjahani Mohammad, Saki Najmaldin
a Department of Biochemistry and Hematology, Faculty of Medicine , Semnan University of Medical Sciences , Semnan , Iran.
b Thalassemia & Hemoglobinopathy Research Center, Research Institute of Health , Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
Hematology. 2018 Apr;23(3):139-147. doi: 10.1080/10245332.2017.1375063. Epub 2017 Sep 10.
Sex chromosome loss (SCL) can occur in older men as a physiological phenomenon or as an acquired abnormality in leukemia. Loss of chromosome Y and loss of chromosome X are acquired disorders that are mainly observed in patients over 80 years as well as in myeloid and lymphoid malignancies. In this review, we examine the cytogenetic and molecular changes of sex chromosomes in leukemia.
Relevant English language literature were searched and retrieved from PubMed search engine (1990-2016). The following keywords were used: 'Sex chromosomes', 'Leukemia' and 'Cytogenetics'.
The loss of tumor suppressor genes along with these chromosomal abnormalities in the majority of malignant cells in bone marrow (BM) has raised the question whether this is an age-related phenomenon or has occurred as a result of clonal abnormality. On the other hand, the presence of these chromosomal abnormalities in a number of genetic diseases associated with leukemia leads to progression of malignancy, and their role in peripheral blood stem cell transplantation confirm the finding that these chromosomal abnormalities can play an important role in clonal abnormality.
The presence of these abnormalities can cause genetic instability in BM and result in the development of a malignant clone and progression of the disease. In addition, the evaluation of SCL together with the genes involved in these chromosomes can contribute to predict the disease prognosis as well as monitoring of malignancy.
性染色体丢失（SCL）可作为一种生理现象出现在老年男性中，也可作为白血病中的一种获得性异常。Y染色体丢失和X染色体丢失是主要在80岁以上患者以及髓系和淋巴系恶性肿瘤中观察到的获得性疾病。在本综述中，我们研究白血病中性染色体的细胞遗传学和分子变化。
从PubMed搜索引擎（1990 - 2016年）检索相关英文文献。使用了以下关键词：“性染色体”、“白血病”和“细胞遗传学”。
骨髓（BM）中大多数恶性细胞中肿瘤抑制基因的丢失以及这些染色体异常引发了一个问题，即这是一种与年龄相关的现象，还是由于克隆异常导致的。另一方面，在一些与白血病相关的遗传疾病中存在这些染色体异常会导致恶性肿瘤进展，并且它们在外周血干细胞移植中的作用证实了这些染色体异常可在克隆异常中发挥重要作用这一发现。
这些异常的存在可导致骨髓中的基因不稳定，并导致恶性克隆的发展和疾病进展。此外，对SCL以及这些染色体中涉及的基因进行评估有助于预测疾病预后以及监测恶性肿瘤。
