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12号染色体断点在良性和恶性脂肪生成性肿瘤中细胞遗传学上存在差异:脂肪瘤中的断点定位于12q15,黏液样脂肪肉瘤中的断点定位于12q13.3。

Chromosome 12 breakpoints are cytogenetically different in benign and malignant lipogenic tumors: localization of breakpoints in lipoma to 12q15 and in myxoid liposarcoma to 12q13.3.

作者信息

Mrózek K, Karakousis C P, Bloomfield C D

机构信息

Cytogenetics Research Laboratory, Roswell Park Cancer Institute, Buffalo, New York 14263.

出版信息

Cancer Res. 1993 Apr 1;53(7):1670-5.

PMID:8453640
Abstract

Cytogenetic study of short-term cultures from 10 adipose tissue tumors (eight lipomas, one myxoid liposarcoma, and one mixed liposarcoma) have revealed clonal chromosome abnormalities in seven cases. In both malignant tumors, translocation (12;16) was the sole aberration, and in the mixed liposarcoma, the breakpoints could be sublocalized to bands 12q13.3 and 16p11.2, thus confirming findings of Eneroth et al., Cancer Genet. Cytogenet., 48: 101-107, 1990. Three lipomas displayed predominantly normal karyotypes; in a fourth case, the karyotype 44,XX,-6,der (7)t(6;7)(p21.3-22;p22)ins(7)(p22q11.2q22),-13 was found. Four remaining lipomas were characterized by structural rearrangements of chromosome 12. We were able to achieve high resolution banding patterns in two tumors with translocations (3;12)(q28;q15) and (1;2;12)(p36.;q13;q15). In both of these cases, the chromosome 12 breakpoint could be unequivocally assigned to band q15. Similarly, band 12q15 was also rearranged in two other lipomas with translocations (12;14)(q15;q32) and (12;20)(q15;q13.1). Our results support the hypothesis that the chromosome 12 breakpoint in lipomas is located more distally than the breakpoint in myxoid liposarcomas and some other soft-tissue malignant neoplasms and that it is cytogenetically identical with breakpoints detected in such benign tumors as uterine leiomyoma and pleomorphic adenoma of the salivary gland.

摘要

对10例脂肪组织肿瘤(8例脂肪瘤、1例黏液样脂肪肉瘤和1例混合型脂肪肉瘤)的短期培养物进行细胞遗传学研究,发现7例存在克隆性染色体异常。在这两种恶性肿瘤中,易位(12;16)是唯一的异常,在混合型脂肪肉瘤中,断点可亚定位到12q13.3和16p11.2带,从而证实了Eneroth等人(《癌症遗传学与细胞遗传学》,48:101 - 107,1990年)的研究结果。3例脂肪瘤主要显示正常核型;在第4例中,发现核型为44,XX,-6,der(7)t(6;7)(p21.3 - 22;p22)ins(7)(p22q11.2q22),-13。其余4例脂肪瘤的特征是12号染色体发生结构重排。我们在两例具有易位(3;12)(q28;q15)和(1;2;12)(p36.;q13;q15)的肿瘤中获得了高分辨率带型。在这两种情况下,12号染色体断点均可明确定位于q15带。同样,在另外两例具有易位(12;14)(q15;q32)和(12;20)(q15;q13.1)的脂肪瘤中,12q15带也发生了重排。我们的结果支持这样的假说,即脂肪瘤中12号染色体断点比黏液样脂肪肉瘤和其他一些软组织恶性肿瘤中的断点更靠近末端,并且在细胞遗传学上与子宫平滑肌瘤和涎腺多形性腺瘤等良性肿瘤中检测到的断点相同。

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