Nibert M, Heim S
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Genes Chromosomes Cancer. 1990 May;2(1):3-13. doi: 10.1002/gcc.2870020103.
Uterine leiomyoma--a benign smooth muscle tumor--has recently been found to contain tumor-specific chromosome aberrations. Although only normal karyotypes were detected in 50 to 80% of cytogenetically investigated tumors, 104 leiomyomas with karyotypic aberrations have already been reported. At least four cytogenetically abnormal subgroups have been identified thus far, characterized by rearrangements of 6p, del(7)(q21.2q31.2), +12, and t(12;14)(q14-15;q23-24). The remaining abnormal tumors have had various nonrecurrent anomalies. Secondary karyotypic rearrangements, sometimes including ring chromosomes, have been found in one-third and reflect clonal evolution. Occasional leiomyomas have contained multiple numerical and structural rearrangements. Though benign, these cytogenetically grossly aberrant tumors often displayed more atypical histological features than are usually seen in leiomyoma. Multiple leiomyomas have been investigated from 69 patients, with detection of chromosome anomalies in at least two separate tumors from the same uterus in ten cases. In half of these patients unrelated aberrations were found in different leiomyomas from the same uterus. On other occasions the aberrations were identical, indicating that although some uterine leiomyomas originate independently, others may develop by intra-myometrial spreading from a common neoplastic clone. Some common features are discernible between the karyotypic pictures of uterine leiomyoma and angioleiomyoma; rearrangements of 6p, 13q, and 21q have been described in both tumor types. The cytogenetic similarities so far detected between leiomyoma and the malignant muscle tumors--leiomyosarcoma and rhabdomyosarcoma--are few and may be fortuitous. The cytogenetic profiles of leiomyoma and lipoma are strikingly similar; both tumor types have nonrandom rearrangements of 12q13-15, t(12;14) in leiomyoma and t(3;12) in lipoma, as well as variant rearrangements of the same 12q segment. Both also have cytogenetic subgroups characterized by changes in 6p and ring chromosomes. Finally, karyotypic similarities exists also between leiomyoma and pleomorphic adenoma of the salivary gland, which includes a subset of tumors with anomalies of 12q13-15, and with myxoid liposarcoma, which has t(12;16)(q13;p11) as a tumor-specific rearrangement.
子宫平滑肌瘤——一种良性平滑肌肿瘤——最近被发现含有肿瘤特异性染色体畸变。尽管在50%至80%经细胞遗传学研究的肿瘤中仅检测到正常核型，但已有104例具有核型畸变的平滑肌瘤被报道。迄今为止至少已鉴定出四个细胞遗传学异常亚组，其特征分别为6p重排、del(7)(q21.2q31.2)、+12以及t(12;14)(q14 - 15;q23 - 24)。其余异常肿瘤具有各种非重复性异常。继发性核型重排，有时包括环状染色体，在三分之一的病例中被发现，反映了克隆进化。偶尔有平滑肌瘤包含多种数量和结构重排。尽管这些肿瘤是良性的，但这些细胞遗传学上严重畸变的肿瘤通常表现出比通常在平滑肌瘤中所见更不典型的组织学特征。对69例患者的多个平滑肌瘤进行了研究，在10例患者中，至少在同一子宫的两个不同肿瘤中检测到染色体异常。在这些患者中的一半，在同一子宫的不同平滑肌瘤中发现了不相关的畸变。在其他情况下，畸变是相同的，这表明尽管一些子宫平滑肌瘤独立起源，但其他一些可能通过肌层内从一个共同的肿瘤克隆扩散而发生。子宫平滑肌瘤和血管平滑肌瘤的核型图谱之间可辨别出一些共同特征；在这两种肿瘤类型中均已描述了6p、13q和21q的重排。到目前为止，在平滑肌瘤与恶性肌肉肿瘤——平滑肌肉瘤和横纹肌肉瘤——之间检测到的细胞遗传学相似性很少，可能是偶然的。平滑肌瘤和脂肪瘤的细胞遗传学图谱惊人地相似；这两种肿瘤类型均有12q13 - 15的非随机重排，平滑肌瘤中有t(12;14)，脂肪瘤中有t(3;12)，以及同一12q区段的变异重排。两者也都有以6p改变和环状染色体为特征的细胞遗传学亚组。最后，平滑肌瘤与唾液腺多形性腺瘤之间也存在核型相似性，其中包括一部分具有12q13 - 15异常的肿瘤，以及与黏液样脂肪肉瘤之间存在核型相似性，黏液样脂肪肉瘤具有t(12;16)(q13;p11)作为肿瘤特异性重排。
