Supplementary Material for: A Novel Molecular Cytogenetic Finding of Leiomyomatosis Peritonealis Disseminata

<b><i>Background:</i></b> Leiomyomatosis peritonealis disseminata (LPD) is a rare disease characterised by the subperitoneal proliferation of smooth muscle cells that form benign nodules. A few studies have aimed to reveal the pathogenesis of LPD without reaching a clear explanation. <b><i>Methods:</i></b> Karyotype analysis and array-comparative genomic hybridization (aCGH) of a human LPD case were performed to evaluate the role of chromosomal abnormalities in LPD pathogenesis. <b><i>Results:</i></b> The LPD nodules showed a 45, XX, del(7p), t(11; 17) (q23;q25),-22 de novo karyotype, and the aCGH analysis confirmed these deletions at 7p22.3-p12.1 (1,862,362-52,766,911 bp) and 22q11.23-q13.33 (21,973,915-49,265,116 bp) with lengths of 50.9 Mb and 27.3 Mb, respectively. <b><i>Conclusion:</i></b> In this study, we described two large novel aberrations - deletions in chromosome 7 and 22 - that might play an important role in LPD disease. These findings might contribute to new insights to unravel the pathogenesis of LPD and develop further clinical treatments.

<b><i>背景：</i></b> 弥漫性腹膜平滑肌瘤病（Leiomyomatosis peritonealis disseminata, LPD）是一种罕见疾病，以平滑肌细胞于腹膜下增殖并形成良性结节为核心特征。目前已有少量研究试图阐释LPD的发病机制，但尚未得出明确结论。<b><i>方法：</i></b> 本研究对1例人类LPD病例实施核型分析与阵列比较基因组杂交（array-comparative genomic hybridization, aCGH）检测，以评估染色体异常在LPD发病机制中的作用。<b><i>结果：</i></b> LPD结节的核型为45, XX, del(7p), t(11; 17)(q23;q25),-22，属于新发核型；aCGH分析证实存在两处缺失区域：7p22.3-p12.1（1,862,362-52,766,911 bp）及22q11.23-q13.33（21,973,915-49,265,116 bp），缺失片段长度分别为50.9 Mb与27.3 Mb。<b><i>结论：</i></b> 本研究报道了两处全新的大片段染色体异常——7号与22号染色体缺失，其可能在LPD的发生发展中发挥重要作用。本研究结果可为阐明LPD的发病机制及开发后续临床治疗手段提供全新的研究思路。