Serio Gabriella, Gentile Mattia, Pennella Antonio, Marzullo Andrea, Buonadonna Antonia Lucia, Nazzaro Pietro, Testini Mario, Musti Marina, Scattone Anna
Department of Pathology, Medical School, University of Bari, Italy.
Pathol Int. 2009 Jun;59(6):415-21. doi: 10.1111/j.1440-1827.2009.02387.x.
Malignant mesotheliomas of the hernial sac are uncommon and only a few cases have been diagnosed incidentally during herniorrhaphy procedures. The prognosis is poor and patient management is difficult because current treatment modalities do little to prolong survival. Molecular markers could be useful to identify potential therapeutic targets. Using microarray-comparative genomic hybridization (aCGH), two cases of peritoneal mesothelioma that were found incidentally at the time of hernia repair, were investigated. A high number of genetic aberrations was detected in both cases. The gains were prevalent. The tumors showed identical lost regions at 2q13, 6q25.3, 6q26, 6q26-->q27, 9q31.1-->9q31.3, 10p15.3, 11q13.2, 13q14.2, 19q13.42-->q43, and gains at 1p36.33, 3q29, 5p15.33, 7p22.3, 10p15.1-->10p14, 11q13.2, 12q24.23, 12q24.33, 16p13.3, 17p13.3, 18p11.31, 19q13.43, 21q21.1-->q21.2, 22q11.1-->q11.22, Xp21.2, Xq28. Survival was longer in the patient with a lower total number of genetic defects. aCGH provides a high-resolution map of copy number changes that may be critical to mesothelioma progression.
疝囊恶性间皮瘤并不常见，仅有少数病例在疝修补手术中被偶然诊断出来。其预后较差，且由于目前的治疗方式对延长生存期作用不大，患者管理颇具难度。分子标志物可能有助于识别潜在的治疗靶点。利用微阵列比较基因组杂交技术（aCGH），对两例在疝气修补时偶然发现的腹膜间皮瘤病例进行了研究。在这两例病例中均检测到大量基因畸变。增益较为普遍。肿瘤在2q13、6q25.3、6q26、6q26→q27、9q31.1→9q31.3、10p15.3、11q13.2、13q14.2、19q13.42→q43区域呈现相同的缺失，在1p36.33、3q29、5p15.33、7p22.3、10p15.1→10p14、11q13.2、12q24.23、12q24.33、16p13.3、17p13.3、18p11.31、19q13.43、21q21.1→q21.2、22q11.1→q11.22、Xp21.2、Xq28区域呈现增益。基因缺陷总数较少的患者生存期更长。aCGH提供了一份高分辨率的拷贝数变化图谱，这可能对间皮瘤进展至关重要。
