Nordkvist A, Mark J, Gustafsson H, Bang G, Stenman G
Department of Pathology, University of Göteborg, Sahlgren's Hospital, Sweden.
Genes Chromosomes Cancer. 1994 Jun;10(2):115-21. doi: 10.1002/gcc.2870100206.
The chromosomal findings in 10 adenoid cystic carcinomas (ACC) of the salivary glands are described. Clonal numerical deviations as the sole anomaly were detected in four cases and structurally rearranged stemlines and sidelines in four cases. An apparently identical t(6;9)(q23;p21) was found in two tumors; in one case the translocation was part of the abnormal stemline and in the other case it was the sole anomaly in a single variant cell. A similar or identical t(6;9)(q21-24;p13-23) has recently been reported in three of 15 previously published cases of ACC. The three remaining tumors with abnormal stemlines all had rearrangements of chromosome 9, including t(1;9)(q21;p21-22), der(9)i(9)(q10)inv(9)(q12q13), and der(X)t(X;9)(p21;p22-23), respectively. The latter case also had a t(17;18)(p12;q11.2) that was common to both abnormal clones present in this tumor. In addition to other abnormalities, the clone with der(X)t(X;9) also showed a del(6)(q13q21). In two cases fluorescence in situ hybridization (FISH) was used for further characterization of the marker chromosomes. A survey of the present findings together with previous results from 15 ACC clearly demonstrates that rearrangements of 6q21-24 (deletions or translocations in 11 cases), 9p13-23 (translocations in seven cases), and 17p12-13 (translocations in three cases) are recurrent, and often primary, in ACC, and that the t(6;9)(q21-24;p13-23), found in five tumors, is a non-random, primary aberration.
本文描述了10例涎腺腺样囊性癌（ACC）的染色体检查结果。4例例例�例检测到克隆性数目异常作为唯一异常，4例检测到结构重排的主干线和侧干线。在两例肿瘤中发现了明显相同的t(6;9)(q23;p21)；一例中该易位是异常主干线的一部分，另一例中它是单个变异细胞中的唯一异常。最近在先前发表的15例ACC病例中的3例中也报道了类似或相同的t(6;9)(q21 - 24;p13 - 23)。其余3例主干线异常的肿瘤均有9号染色体重排，分别包括t(1;9)(q21;p21 - 22)、der(9)i(9)(q10)inv(9)(q12q13)和der(X)t(X;9)(p21;p22 - 23)。后一例还存在t(17;18)(p12;q11.2)，该肿瘤中存在的两个异常克隆均有此异常。除其他异常外，带有der(X)t(X;9)的克隆还显示出del(6)(q13q21)。在两例中，荧光原位杂交（FISH）用于对标记染色体进行进一步特征分析。对本研究结果以及先前15例ACC结果的综述清楚地表明，6q21 - 24重排（11例缺失或易位）、9p13 - 23重排（7例易位）和17p12 - 13重排（3例易位）在ACC中是反复出现的，且通常是原发性的，在5例肿瘤中发现的t(6;9)(q21 - 24;p13 - 23)是一种非随机的原发性畸变。
