CAJ | 학술논문

目的探讨间变性大细胞淋巴瘤(ALCL)中间变性淋巴瘤激酶(ALK)基因与c-myc基因的分子遗传学改变.方法收集原发系统性ALCL石蜡包埋组织标本72例,利用间期荧光原位杂交(FISH)技术检测ALCL肿瘤组织中ALK和c-myc基因结构与数目的变化.结果 72例ALCL中,ALK阳性者42例,40例存在涉及ALK基因的染色体易位,其中17例同时伴有ALK基因的多拷贝;ALK阴性的30例均未发现ALK基因的易位,但其中14例存在ALK基因的多拷贝.ALK基因多拷贝的发生率在ALK阳性与阴性组中的差异无统计学意义(P＞0.05).72例病例中,均未发现涉及c-myc基因的染色体易位,但其中24例存在c-myc基因的多拷贝.结论大部分ALCL伴有ALK基因的异常(75.0%).以涉及ALK基因的染色体易位最为多见(55.6%),ALK基因多拷贝也是ALCL较为常见的遗传学改变(43.1%).前者只出现于ALK阳性ALCL中,后者既可出现在ALK阳性也可出现在ALK阴性的ALCL中.ALCL中不见或罕见涉及c-myc基因的染色体易位,但c-myc基因多拷贝的现象较为常见(33.3%).
목적 탐토간변성대세포림파류(ALCL)중간변성림파류격매(ALK)기인여c-myc기인적분자유전학개변.방법 수집원발계통성ALCL석사포매조직표본72례,이용간기형광원위잡교(FISH)기술검측ALCL종류조직중ALK화c-myc기인결구여수목적변화.결과 72례ALCL중,ALK양성자42례,40례존재섭급ALK기인적염색체역위,기중17례동시반유ALK기인적다고패;ALK음성적30례균미발현ALK기인적역위,단기중14례존재ALK기인적다고패.ALK기인다고패적발생솔재ALK양성여음성조중적차이무통계학의의(P＞0.05).72례병례중,균미발현섭급c-myc기인적염색체역위,단기중24례존재c-myc기인적다고패.결론 대부분ALCL반유ALK기인적이상(75.0%).이섭급ALK기인적염색체역위최위다견(55.6%),ALK기인다고패야시ALCL교위상견적유전학개변(43.1%).전자지출현우ALK양성ALCL중,후자기가출현재ALK양성야가출현재ALK음성적ALCL중.ALCL중불견혹한견섭급c-myc기인적염색체역위,단c-myc기인다고패적현상교위상견(33.3%).
Objective To investigate the molecular genetic changes of anaplastic lymphoma kinase (ALK) gene and c-myc gene in anaplastic large cell lymphoma (ALCL). Methods The structural aberrations and changes of copy numbers in ALK and c-myc genes in 72 paraffin-embedded ALCL specimens were detected by interphase fluorescence in situ hybridization (FISH). Results Among 72 ALCL specimens, ALK protein was expressed in 42, ALK gene translocation was detected in 40 specimens in which extra copies of ALK gene were detected in 17. ALK gene translocation was not found in all 30 ALK negative specimens, but extra copies of ALK gene were detected in 14 cases. The difference of incidence rates of extra copies in ALK gene between ALK positive and ALK negative specimens was not significant (P＞0.05). c-myc gene translocation was not found in any of 72 ALCL specimens, but extra copies were detected in 24 cases.Conclusion Most (75.0%) ALCL have ALK gene aberration, in which ALK gene translocations are most common (55.6%), and the extra copies of ALK gene are relatively common genetic changes (43.1%). The ALK gene aberration is only detected in ALK positive ALCL and the gene translocations are in either ALK positive and negative ALCL. There is no or rare c-myc gene translocation in ALCL, but extra copies of c-myc gene are relatively common (33.3%).