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对249例因骨肿瘤接受检查的连续患者进行细胞遗传学研究。

Cytogenetic study of 249 consecutive patients examined for a bone tumor.

作者信息

Tarkkanen M, Kaipainen A, Karaharju E, Böhling T, Szymanska J, Heliö H, Kivioja A, Elomaa I, Knuutila S

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Cancer Genet Cytogenet. 1993 Jul 1;68(1):1-21. doi: 10.1016/0165-4608(93)90068-w.

Abstract

Chromosome analysis was performed on 304 samples of 249 consecutive patients examined for a possible bone tumor. The series consisted of 86 nonneoplastic disorders, 108 benign and 78 malignant primary bone tumors, and 32 other bone malignancies. In the group of nonneoplastic disorders, one sample from an infectious lesion demonstrated a clonal chromosome aberration, i.e., additional material in the short arm of chromosome 1. Simple clonal aberrations were noted in six of 75 successfully cultured benign tumors, e.g., a chondromyxoid fibroma with an insertion type translocation from 2p21p25 to 5q13 and 2p deletion and a nonossifying fibroma with del(4)(p14). Complex clonal aberrations were evident in 21 of 54 successfully cultured malignant primary bone tumors and eight of 21 secondary bone malignancies. The complexity of clonal aberrations correlated with the grade of malignancy as the osteosarcomas and chondrosarcomas of high-grade demonstrated chaotic abnormalities. Six Ewing's sarcomas demonstrated the t(11;22)(q24;q12); in one this was the sole abnormality, and in five additional changes were evident: der(1;16)(q10;p10) in one. Homogeneously staining elongated areas interpreted as HSR were observed in three patients, all of whom had a highly malignant tumor. The most frequent nonclonal abnormality was telomeric association, which was observed mainly in giant cell tumors.

摘要

对249例连续接受检查以排查可能存在骨肿瘤的患者的304份样本进行了染色体分析。该系列包括86例非肿瘤性疾病、108例良性和78例恶性原发性骨肿瘤,以及32例其他骨恶性肿瘤。在非肿瘤性疾病组中,一份来自感染性病变的样本显示出克隆性染色体畸变,即1号染色体短臂上有额外物质。在75例成功培养的良性肿瘤中有6例发现了简单的克隆性畸变,例如,一例黏液样纤维瘤有从2p21p25到5q13的插入型易位以及2p缺失,一例非骨化性纤维瘤有del(4)(p14)。在54例成功培养的恶性原发性骨肿瘤中有21例以及21例继发性骨恶性肿瘤中有8例出现了复杂的克隆性畸变。克隆性畸变的复杂性与恶性程度相关,因为高级别的骨肉瘤和软骨肉瘤表现出混乱的异常。6例尤因肉瘤显示出t(11;22)(q24;q12);其中1例这是唯一的异常,另外5例还有其他明显变化:1例有der(1;16)(q10;p10)。在3例患者中观察到被解释为均一染色区(HSR)的均匀染色伸长区,所有这些患者都患有高度恶性肿瘤。最常见的非克隆性异常是端粒联合,主要在巨细胞瘤中观察到。

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