Laurens Jason R, Frankel Adam J, Smithers Bernard M, Strutton Geoffrey
Upper Gastro-intestinal and Soft Tissue Unit, Princess Alexandra Hospital, Woolloongabba, QLD, Australia.
Department of Anatomical Pathology, Princess Alexandra Hospital, Woolloongabba, QLD, Australia.
J Surg Case Rep. 2022 Mar 26;2022(3):rjac121. doi: 10.1093/jscr/rjac121. eCollection 2022 Mar.
Retroperitoneal lipoma is exceedingly rare, and due to the difficulty in distinguishing between retroperitoneal lipoma and well-differentiated liposarcoma (WDLS), recommendation is en-bloc resection. A 58-year-old male was investigated for scrotal swelling, ultrasound and computed tomography showed a well-defined lipomatous mass occupying much of the left side of the lower abdomen. At laparotomy, a large left-sided retroperitoneal mass was found. Histology reported a 160 mm × 150 mm × 90 mm fatty tumour weighing 1540 g. MDM2 gene amplification was not present on fluorescence in situ hybridization. No significant somatic signatures were identified on whole exome sequencing. Retroperitoneal fatty tumours represent a diagnostic dilemma. Sampling via core biopsy has been recorded at 85% accuracy for WDLS. Positive amplification of the MDM2 gene supports a diagnosis of WDLS; however, a negative biopsy does not exclude the diagnosis due to varied amplification among different cells in the same tumour.
腹膜后脂肪瘤极为罕见,由于难以区分腹膜后脂肪瘤和高分化脂肪肉瘤(WDLS),建议进行整块切除。一名58岁男性因阴囊肿胀接受检查,超声和计算机断层扫描显示一个边界清晰的脂肪瘤样肿块占据了左下腹的大部分区域。剖腹手术时,发现一个巨大的左侧腹膜后肿块。组织学报告显示一个160mm×150mm×90mm的脂肪肿瘤,重1540g。荧光原位杂交检测未发现MDM2基因扩增。全外显子测序未发现显著的体细胞特征。腹膜后脂肪肿瘤存在诊断难题。经皮穿刺活检对WDLS的诊断准确率为85%。MDM2基因的阳性扩增支持WDLS的诊断;然而,阴性活检并不能排除诊断,因为同一肿瘤的不同细胞之间扩增情况存在差异。