Heimann P, Devalck C, Debusscher C, Sariban E, Vamos E
Department of Cytogenetics, University Hospital Brugmann, Brussels, Belgium.
Genes Chromosomes Cancer. 1998 Oct;23(2):194-7.
A cytogenetic study of an alveolar soft-part sarcoma, a rare tumor of probably myogenic origin, demonstrated a t(X;17)(p11;q25) as the sole chromosomal abnormality. Dual- and triple-color fluorescence in situ hybridization, performed on metaphase and interphase cells, confirmed the translocation between chromosomes X and 17 and demonstrated that this translocation resulted in loss of 17q25. Involvement of 17q25 has been described in four previously published cases of alveolar soft-part sarcoma, but without further characterization. Compared to our karyotype, it seems that the derivative chromosome 17 observed in the reported cases could also be the result of a t(X;17) with possible loss of the 17q25 band. If so, a 17q25 deletion and/or chromosome rearrangement between Xp and 17q leading either to a gene fusion or gene disruption could play an important role in the pathogenesis of alveolar soft-part sarcoma.
一项对肺泡软组织肉瘤（一种可能起源于肌源性的罕见肿瘤）的细胞遗传学研究表明，t(X;17)(p11;q25)是唯一的染色体异常。对中期和间期细胞进行的双色和三色荧光原位杂交证实了X染色体和17号染色体之间的易位，并表明这种易位导致了17q25的缺失。在先前发表的4例肺泡软组织肉瘤病例中曾描述过17q25受累情况，但未作进一步特征分析。与我们的核型相比，似乎在报告病例中观察到的衍生17号染色体也可能是t(X;17)的结果，可能伴有17q25带的缺失。如果是这样，17q25缺失和/或Xp与17q之间的染色体重排，导致基因融合或基因破坏，可能在肺泡软组织肉瘤的发病机制中起重要作用。
