UTERINE LEIOMYOMA CYTOGENETICS
UTERINE LEIOMYOMA CYTOGENETICS
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DOI：
10.1002/gcc.2870020103
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发表时间：
1990-05-01
影响因子：
3.7
通讯作者：
HEIM, S
中科院分区：
文献类型：
--
作者：
NILBERT, M;HEIM, S
子宫肌瘤是一种良性的平滑肌肿瘤，最近被发现含有肿瘤特有的染色体异常。尽管在50-80%的细胞遗传学研究的肿瘤中只检测到正常核型，但已经有104例肌瘤核型异常的报道。到目前为止，至少发现了四个细胞遗传学异常亚群，其特征是6p、del(7)(q21.2q31.2)、+12和t(12；14)(q14-15；q23-24)的重排。剩下的异常肿瘤有各种不再复发的异常。次级核型重排，有时包括环状染色体，已在三分之一被发现，并反映克隆进化。偶发的肌瘤包含多个数值和结构重排。虽然是良性的，但这些细胞遗传学异常的肿瘤通常比肌瘤表现出更多的非典型组织学特征。对69例患者的多发性肌瘤进行了研究，其中10例在同一子宫的至少两个不同的肿瘤中检测到染色体异常。在这些患者中，有一半的患者在同一子宫的不同肌瘤中发现了无关的异常。在其他情况下，这些异常是相同的，这表明尽管一些子宫肌瘤是独立起源的，但其他子宫肌瘤可能是通过常见的肿瘤克隆向肌内扩散而发展起来的。子宫肌瘤和血管肌瘤的核型图像有一些共同的特征；在这两种类型的肿瘤中都描述了6p、13q和21q的重排。到目前为止，在平滑肌瘤和恶性肌肉肿瘤--平滑肌肉瘤和横纹肌肉瘤--之间发现的细胞遗传学相似之处很少，可能是偶然的。肌瘤和脂肪瘤的细胞遗传学特征极为相似，均存在12q13-15、t(12；14)和t(3；12)的非随机重排，以及同一12q片段的变异重排。两者也都有细胞遗传学亚群，其特征是6p和环染色体的变化。最后，在涎腺平滑肌瘤和多形性腺瘤之间也存在核型相似性，其中包括一组异常的12q13-15的肿瘤，以及具有t(12；16)(q13；p11)作为肿瘤特异性重排的粘液样脂肪肉瘤。
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 exist 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.