Mertens F, Jonsson K, Willén H, Rydholm A, Kreicbergs A, Eriksson L, Olsson-Sandin G, Mitelman F, Mandahl N
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Br J Cancer. 1996 Jul;74(2):251-4. doi: 10.1038/bjc.1996.346.
Short-term cultures from one synovial chondroma and three cases of synovial chondromatosis, a lesion for which no previous karyotypic information exists, were cytogenetically analysed. Whereas the chondroma displayed the relatively simple karyotype 46,XY,add(12)(q13),der(17)t(12;17)(q13;q21), more complex changes were found in the three cases of chondromatosis: case 1, 47,XY,der(1)inv(1)(p13q25)del (1)(q25q32), t(1;12)(q25;q13), + 5,der(12)add(12)(p11)t(1;12)(p22;q13); case 2, 47,XY,add(10)(q26), + 20/46 idem,-6/46,XY,t(2;4)(q33;q21), add(21)(p11); and case 3, 44,XY,add(1)(p36), del(1)(p13p22),add(6)(p25), del(7) (q22q32),del(10)(q21),add(11)(q13),-17,-18. The cytogenetic findings strongly suggest that synovial chondro-matosis is a clonal proliferation. Apart from a near-diploid chromosome number, the only recurrent cytogenetic features among the four cases were loss of band 10q26 and rearrangements of 1p13 and 12q13, found in two cases each. While chromosome bands 1p13 and 10q26 have not been reported to be involved in other types of benign chondromatous lesions, the 12q13-15 segment is recurrently rearranged in a variety of chondromatous tumours, e.g. pulmonary chondroid hamartomas. The present finding of translocations affecting band 12q13 in two of the cases emphasises that, irrespective of the anatomical localisation of the tumours, rearrangements of genes in 12q13-15 are important in the development of a large subset of benign and malignant cartilage-forming tumours.
对1例滑膜软骨瘤和3例滑膜软骨瘤病的短期培养物进行了细胞遗传学分析，滑膜软骨瘤病是一种此前尚无核型信息的病变。软骨瘤显示出相对简单的核型46,XY,add(12)(q13),der(17)t(12;17)(q13;q21)，而在3例软骨瘤病中发现了更复杂的变化：病例1，47,XY,der(1)inv(1)(p13q25)del(1)(q25q32),t(1;12)(q25;q13), +5,der(12)add(12)(p11)t(1;12)(p22;q13)；病例2，47,XY,add(10)(q26), +20/46同型，-6/46,XY,t(2;4)(q33;q21),add(21)(p11)；病例3，44,XY,add(1)(p36),del(1)(p13p22),add(6)(p25),del(7)(q22q32),del(10)(q21),add(11)(q13),-17,-18。细胞遗传学结果强烈提示滑膜软骨瘤病是一种克隆性增殖。除了接近二倍体的染色体数目外，这4例中唯一反复出现的细胞遗传学特征是10q26带的缺失以及1p13和12q13的重排，各有2例出现。虽然尚未报道1p13和10q26染色体带与其他类型的良性软骨性病变有关，但12q13 - 15节段在多种软骨性肿瘤中反复发生重排，如肺软骨样错构瘤。本研究中2例出现影响12q13带的易位，这强调了无论肿瘤的解剖定位如何，12q13 - 15基因重排在很大一部分良性和恶性软骨形成肿瘤的发生发展中都很重要。
