Petit M M, Swarts S, Bridge J A, Van de Ven W J
Laboratory for Molecular Oncology, University of Leuven, Belgium.
Cancer Genet Cytogenet. 1998 Oct 1;106(1):18-23. doi: 10.1016/s0165-4608(98)00038-7.
Parosteal lipomas are rare benign neoplasms of adipose tissue that exhibit a contiguous relationship with the periosteum. These lipomas of the bone share some histopathologic features with their commonly occurring soft tissue counterparts. The latter are well-characterized cytogenetically, primarily by rearrangements involving chromosome region 12q13-q15. In particular, translocations involving 12q13-q15 are prominent, with chromosomal region 3q27-q28 as the most frequent translocation partner. Recently, we established that the genes HMGIC at 12q15 and LPP at 3q27-28 are affected by the 3;12-translocation and demonstrated that, as a direct result, HMGIC/LPP and LPP/HMGIC fusion transcripts are expressed in soft tissue lipomas. In this study, cytogenetic and molecular analyses revealed similar findings in a parosteal lipoma. Specifically, a t(3;12)(q28;q14) was detected cytogenetically in a parosteal lipoma from a 51-year-old female and subsequently confirmed by FISH utilizing a chromosome 3 breakpoint spanning YAC probe and chromosome 12 breakpoint flanking cosmid probes. RT-PCR analysis showed expression of HMGIC/LPP and LPP/HMGIC fusion transcripts in this parosteal lipoma; nucleotide sequence analysis revealed that these transcripts are identical to those expressed in soft tissue lipomas characterized by a 3;12-translocation. These findings lend further support to a common histopathogenesis between lipomas of soft tissue and parosteal origin.
骨旁脂肪瘤是一种罕见的脂肪组织良性肿瘤,与骨膜呈连续关系。这些骨脂肪瘤与其常见的软组织对应物具有一些组织病理学特征。后者在细胞遗传学上有很好的特征,主要是涉及染色体区域12q13 - q15的重排。特别是,涉及12q13 - q15的易位很突出,染色体区域3q27 - q28是最常见的易位伙伴。最近,我们确定位于12q15的HMGIC基因和位于3q27 - 28的LPP基因受3;12易位影响,并证明其直接结果是HMGIC/LPP和LPP/HMGIC融合转录本在软组织脂肪瘤中表达。在本研究中,细胞遗传学和分子分析在一例骨旁脂肪瘤中发现了类似结果。具体而言,在一名51岁女性的骨旁脂肪瘤中通过细胞遗传学检测到t(3;12)(q28;q14),随后利用跨越YAC探针的3号染色体断点和侧翼粘粒探针的12号染色体断点进行FISH证实。RT-PCR分析显示该骨旁脂肪瘤中存在HMGIC/LPP和LPP/HMGIC融合转录本表达;核苷酸序列分析表明这些转录本与以3;12易位为特征的软组织脂肪瘤中表达的转录本相同。这些发现进一步支持了软组织脂肪瘤和骨旁脂肪瘤之间存在共同的组织病理学发病机制。