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在梭形细胞/多形性脂肪瘤中,13q的病变可能独立于16q的缺失而发生。

Lesions of 13q may occur independently of deletion of 16q in spindle cell/pleomorphic lipomas.

作者信息

Dal Cin P, Sciot R, Polito P, Stas M, de Wever I, Cornelis A, Van den Berghe H

机构信息

Centre for Human Genetics, University of Leuven, Belgium.

出版信息

Histopathology. 1997 Sep;31(3):222-5. doi: 10.1046/j.1365-2559.1997.2450851.x.

Abstract

AIMS

Very recent multidisciplinary investigations have allowed for the definition among lipomas of a clinical and histological subtype called spindle cell and/or pleomorphic lipoma, possibly associated with partial monosomy 16 and anomalies of chromosome 13. In order to get nearer to the underlying critical molecular changes further multidisciplinary pathological and genetic research is indicated, to identify which chromosome(s) anomalies are crucial in the development of these tumours.

METHODS AND RESULTS

In an ongoing multidisciplinary study of lipomatous tumours, including clinical findings, morphology, histochemistry and cytogenetics, two instances were found of spindle cell lipoma with clonal chromosome changes. In both cases chromosome 13 was involved, whereas only one showed a partial monosomy 16.

CONCLUSIONS

Partial monosomy 16 is a characteristic lesion in spindle cell lipoma, usually associated with anomalies of chromosome 13. The present report confirming a previous single observation indicates, however, that lesions of 13 may occur independently from lesions of 16, suggesting different underlying molecular lesions in these otherwise very similar lipomas.

摘要

目的

近期的多学科研究已在脂肪瘤中明确了一种临床和组织学亚型,称为梭形细胞和/或多形性脂肪瘤,可能与16号染色体部分单体性及13号染色体异常有关。为了更深入了解潜在的关键分子变化,需要进一步开展多学科病理和基因研究,以确定哪些染色体异常在这些肿瘤的发生发展中至关重要。

方法与结果

在一项正在进行的脂肪瘤多学科研究中,包括临床发现、形态学、组织化学和细胞遗传学,发现了两例具有克隆性染色体改变的梭形细胞脂肪瘤。两例均涉及13号染色体,而只有一例显示16号染色体部分单体性。

结论

16号染色体部分单体性是梭形细胞脂肪瘤的特征性病变,通常与13号染色体异常相关。然而,本报告证实了之前的单一观察结果,表明13号染色体病变可能独立于16号染色体病变发生,提示在这些看似非常相似的脂肪瘤中存在不同的潜在分子病变。

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