Genes Chromosomes Cancer. 1992 Jul;5(1):83-8. doi: 10.1002/gcc.2870050112.
Loss of the Y chromosome is a feature of haematologically normal bone marrow in elderly males, but it is also found in haematological malignancy. We describe -Y as the sole karyotypic abnormality in 147 cases (66 from 802 unselected cases and a further 81 cases selected for -Y) with the following diagnoses: no haematological malignancy (N), myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML), and myeloproliferative disorder (MPD). The frequency of -Y in the 802 unselected N, MDS, and AML cases was 7.7%, 10.7%, and 3.7%, respectively. It could not be evaluated in MPD because there were too few cases. In N and MDS cases the frequency increased in a similar fashion over the age of 60 years. The 147 -Y cases showed a similar increase in distribution with advancing age in all four clinical categories. The degree of loss of Y (% -Y cells per patient) increased with age in N and MPD patients but not in those with MDS or AML. This study suggests that in elderly men -Y is not indicative of malignancy and should not be considered as a marker of the malignant clone.
Y染色体缺失是老年男性血液学正常骨髓的一个特征，但也见于血液系统恶性肿瘤。我们将Y染色体缺失描述为147例患者（802例未经选择的病例中有66例，另外81例因Y染色体缺失而被选择）唯一的核型异常，这些患者的诊断如下：无血液系统恶性肿瘤（N）、骨髓增生异常综合征（MDS）、急性髓系白血病（AML）和骨髓增殖性疾病（MPD）。在802例未经选择的N、MDS和AML病例中，Y染色体缺失的频率分别为7.7%、10.7%和3.7%。由于MPD病例太少，无法对其进行评估。在N和MDS病例中，60岁以上患者的频率以相似的方式增加。在所有四个临床类别中，147例Y染色体缺失病例的分布也随年龄增长而出现类似增加。在N和MPD患者中，Y染色体缺失的程度（每位患者Y染色体缺失细胞的百分比）随年龄增加，而在MDS或AML患者中则不然。这项研究表明，在老年男性中，Y染色体缺失并不表明存在恶性肿瘤，不应被视为恶性克隆的标志物。
