Broehm Cory J, M'Lady Gary, Bocklage Thèrése, Wenceslao Stella, Chafey David
Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM, USA.
Department of Radiology, University of New Mexico School of Medicine, Albuquerque, NM, USA.
Cancer Genet. 2013 Nov;206(11):402-5. doi: 10.1016/j.cancergen.2013.11.004. Epub 2013 Nov 22.
Bizarre parosteal osteochondromatous proliferation (BPOP) is a rare, benign osteocartilaginous lesion characterized by a mixture of immature bone, bland spindle cells, and irregular, hypercellular cartilage undergoing calcification. A t(1;17)(q32;q21) has been reported as a unique recurring translocation identified in seven cases. Inversion of chromosome 7, inv(7)(q22q32), has also recently been described in one case of BPOP. We report an additional case of inv(7) in a BPOP occurring on the distal radius in a 36-year-old woman who presented with a slow-growing mass on the right wrist. Metaphase karyotype analysis of fresh tissue from tumor taken at resection revealed an inv(7)(q22q32). A review of the literature identified two additional cases of inv(7) (q21.1q31.3 and q22.1q31.3), both paired with inv(6)(p25q15), bringing the total number of cases of inv(7) in BPOP to four. These data suggest inv(7) may be another characteristic cytogenetic abnormality associated with and possibly contributing to the development of BPOP.
怪异的骨旁骨软骨瘤样增生(BPOP)是一种罕见的良性骨软骨病变,其特征为不成熟骨、无异型性的梭形细胞以及正在钙化的不规则、细胞丰富的软骨混合存在。据报道,t(1;17)(q32;q21)是在7例病例中发现的一种独特的复发性易位。最近在1例BPOP病例中还描述了7号染色体倒位,即inv(7)(q22q32)。我们报告了1例发生在一名36岁女性桡骨远端的BPOP中出现inv(7)的病例,该患者右腕部有一生长缓慢的肿块。对切除肿瘤的新鲜组织进行中期核型分析显示为inv(7)(q22q32)。文献回顾发现另外2例inv(7)(q21.1q31.3和q22.1q31.3),均伴有inv(6)(p25q15),使得BPOP中inv(7)的病例总数达到4例。这些数据表明,inv(7)可能是另一种与BPOP发生相关且可能促使其发生发展的特征性细胞遗传学异常。