Mertens F, Rydholm A, Bauer H F, Limon J, Nedoszytko B, Szadowska A, Willén H, Heim S, Mitelman F, Mandahl N
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Int J Cancer. 1995 Jun 9;61(6):793-8. doi: 10.1002/ijc.2910610609.
Clonal chromosome aberrations were detected in 8 short-term cultured malignant peripheral nerve sheath tumors (MPNST). Seven had a near-triploid chromosome number and I was in the hyperhaploid-hypodiploid range. No recurrent structural rearrangements were found; the bands most frequently involved (3 tumors) were 7p11, 12p13 and 14q11. The most common numerical changes were loss of a sex chromosome (all tumors) and loss of at least 1 copy of chromosomes 8, 16 and 22 (4 tumors). Pooling our data with those on the 20 previously published MPNST with abnormal karyotypes, we found that the chromosome number has often been in the triploid range (12 tumors), with stem line variation between 34 and 270. All chromosome arms, except 22p and the Y chromosome, were involved in recombinations. The most frequently rearranged bands were 7p22 (6 tumors) and 1p21, 7p11 and 14q11 (5 tumors each). Most numerical and unbalanced structural aberrations have led to loss of genetic material, in particular from Xq26-qter (13 tumors); 11q22-qter and 13p (12 tumors); 9p22-pter, 11p13-pter, 17p and 17q11-21 (11 tumors); 1p22-32 and 1p34-pter (10 tumors) and 6q25-qter and chromosome 16 (9 tumors).
在8例短期培养的恶性外周神经鞘瘤(MPNST)中检测到克隆性染色体畸变。7例染色体数目接近三倍体,1例处于超单倍体-亚二倍体范围。未发现复发性结构重排;最常受累的带(3例肿瘤)为7p11、12p13和14q11。最常见的数目改变是性染色体丢失(所有肿瘤)以及8号、16号和22号染色体至少1条拷贝的丢失(4例肿瘤)。将我们的数据与之前发表的20例核型异常的MPNST数据汇总后,我们发现染色体数目常处于三倍体范围(12例肿瘤),干系变异范围在34至270之间。除22p和Y染色体外,所有染色体臂均参与了重组。最常发生重排的带为7p22(6例肿瘤)以及1p21、7p11和14q11(各5例肿瘤)。大多数数目和不平衡结构畸变导致遗传物质丢失,特别是Xq26-qter(13例肿瘤);11q22-qter和13p(12例肿瘤);9p22-pter、11p13-pter、17p和17q11-21(11例肿瘤);1p22-32和1p34-pter(10例肿瘤)以及6q25-qter和16号染色体(9例肿瘤)。