Jakovleva K, Ogard I, Arvidsson I, Jacobsson B, Swolin B, Hast R
Department of Hematology, Division of Medicine, Karolinska Hospital, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
Leuk Res. 2001 Mar;25(3):197-203. doi: 10.1016/s0145-2126(00)00119-3.
Masked monosomy 7, i.e. detected by FISH but not by conventional cytogenetics, has been reported in varying frequency in MDS. To establish the prevalence and possible clinical significance of the aberration, we studied the 123 previously karyotyped MDS patients using FISH and a DNA probe specific for chromosome 7. Metaphase cytogenetics revealed ten patients (8%) with monosomy 7 (6 RAEB and 4 RAEB-t). FISH confirmed this result and detected four more cases (4%) with masked monosomy 7 (3 RA and 1 RARS). Thus, masked monosomy 7 is less common than has been suggested, and does not seem to carry the same prognostic weight as monosomy 7 diagnosed by metaphase cytogenetics.
隐匿性7号染色体单体，即通过荧光原位杂交（FISH）检测到但常规细胞遗传学检测未发现的情况，在骨髓增生异常综合征（MDS）中的报道频率各不相同。为了确定这种异常的发生率及其可能的临床意义，我们使用FISH和一种针对7号染色体的DNA探针研究了123例先前已进行核型分析的MDS患者。中期细胞遗传学显示10例患者（8%）存在7号染色体单体（6例难治性贫血伴原始细胞过多（RAEB）和4例难治性贫血伴原始细胞过多转变型（RAEB-t））。FISH证实了这一结果，并检测到另外4例（4%）隐匿性7号染色体单体病例（3例难治性贫血（RA）和1例难治性贫血伴环形铁粒幼细胞增多（RARS））。因此，隐匿性7号染色体单体比之前认为的更为少见，并且似乎不具有与中期细胞遗传学诊断的7号染色体单体相同的预后权重。
