Dadfarnia Tahereh, Velagaleti Gopalrao V N, Carmichael Kelly D, Eyzaguirre Eduardo, Eltorky Mahmoud A, Qiu Suimin
Department of Pathology, University of Texas Medical Branch, Galveston, USA.
Cancer Genet. 2011 Dec;204(12):666-70. doi: 10.1016/j.cancergen.2011.11.005.
Chondromyxoid fibroma (CMF) is a rare cartilaginous tumor of bone. It typically presents in the long tubular bones and to a lesser extent in the small bones of the hands and feet of young adults. To date, several cytogenetic abnormalities have been described in association with CMF. We studied a phalangeal CMF from a 13-year-old female by cytogenetic methods. We found a novel unbalanced translocation between the long arms of chromosomes 1 and 9, resulting in loss of 1p. In addition, rearrangements involving the 6q23 and 9q22 regions were also observed. To our knowledge, this is the first report in the literature describing this novel chromosomal translocation in CMF.
软骨黏液样纤维瘤(CMF)是一种罕见的骨软骨肿瘤。它通常出现在长管状骨中,在年轻成年人的手足小骨中出现的程度较轻。迄今为止,已经描述了几种与CMF相关的细胞遗传学异常。我们通过细胞遗传学方法研究了一名13岁女性的指骨CMF。我们发现染色体1和9长臂之间存在一种新的不平衡易位,导致1p缺失。此外,还观察到涉及6q23和9q22区域的重排。据我们所知,这是文献中首次报道CMF中这种新的染色体易位。