Trautmann U, Gramatzki M, Krauss M, Friz A, Liehr T, Gebhart E
Institute f. Humangenetik d. Universität Erlangen-Nürnberg, Germany.
Cancer Genet Cytogenet. 1994 Feb;72(2):101-4. doi: 10.1016/0165-4608(94)90123-6.
Tetrasomy of chromosome 8 as a sole anomaly is apparently extremely rare in acute non-lymphocytic leukemia (ANLL): Only two cases have been reported, one of ANLL (M5b) with this karyotype. Very recently, another case was reported of a myelodysplastic syndrome (MDS) with isolated tetrasomy 8. We report tetrasomy 8 in four cases of ANLL, two of them with M5 and one with M1 subtype. Although in the latter case, tetrasomy 8 was evident in all karyotypes analyzed, in all other cases it constituted a subpopulation of cells other than those with trisomy 8 and those with a normal karyotype (in only one case another change was evident in the karyotype). Using fluorescence in situ hybridization (FISH), the proportion of tetrasomic cells was determined in interphase nuclei. By this technique, small cell populations (3-9%) were detected in three additional trisomy cases. An additional "control" group of five trisomy cases did not show a significant population of tetrasomic interphase nuclei. The data show that tetrasomy 8, if present as a sole anomaly in ANLL, may play a rather specific role for the subtype, and probably for the progression of myeloid neoplasia as well.
8号染色体四体作为唯一异常在急性非淋巴细胞白血病（ANLL）中显然极为罕见：仅报告过2例，其中1例为具有这种核型的ANLL（M5b）。最近，又报道了1例孤立性8号染色体四体的骨髓增生异常综合征（MDS）。我们报告了4例ANLL中的8号染色体四体，其中2例为M5型，1例为M1亚型。尽管在后1例中，在所分析的所有核型中8号染色体四体均很明显，但在所有其他病例中，它构成了除8号染色体三体细胞和核型正常的细胞之外的一个细胞亚群（仅1例核型中有另一种变化很明显）。使用荧光原位杂交（FISH）技术，在间期核中确定了四体细胞的比例。通过该技术，在另外3例三体病例中检测到了小细胞群体（3% - 9%）。另外5例三体病例组成的“对照组”未显示出明显的四体间期核群体。数据表明，8号染色体四体若作为ANLL中的唯一异常，可能对该亚型发挥相当特殊的作用，并且可能对髓系肿瘤的进展也有作用。
