腹膜后脂肪肉瘤:一种罕见癌症的不寻常表现

Jennifer L. Spicer
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摘要

摘要腹膜后脂肪肉瘤(RLPS)是一种罕见的肿瘤,根据表现、组织病理学和基因组学,其临床行为多种多样,治疗策略复杂。早期识别至关重要,尽管化疗和放疗是单独使用的,但完全手术切除仍然是主要治疗方法。呈现的症状通常是非特异性的;因此,高度怀疑对早期诊断至关重要。在本报告中,介绍了一名37岁健康男性的治疗方法,该男性患有导致右腹股沟/睾丸疼痛的大RLPS。在急诊科进行了三次评估后,患者被确诊并接受了两个周期的阿霉素/异环磷酰胺/甲磺酸钠(AIM)新辅助化疗。在第二次意见陈述中,他的身体检查显示,右侧精索周围有一个可触摸的巨大腹部肿块和饱胀感。在重复扫描中,肿瘤大小或远处转移没有明显变化。考虑到一些阻塞性症状,一个多学科团队建议在RLPS根治术后进行新辅助放射治疗。最终病理显示为31cm II级高分化(WD)脂肪肉瘤,伴有低度去分化。观察到显微镜下WD阳性边缘的散在灶,其余边缘为阴性。基因组评估显示CDK4、MDM2和FRS2扩增。本文对常见表现、组织病理学、基因组学和治疗信息进行了简要的文献综述。全面的身体检查、对细微发现的关注、适当的医学影像学研究以及在评估模糊症状时的高怀疑指数可以导致RLPS的早期诊断和治疗,并最终改善患者的预后。
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Retroperitoneal Liposarcoma: An Unusual Presentation of a Rare Cancer
Abstract Retroperitoneal liposarcomas (RLPS) are rare tumors that have variable clinical behavior and complex treatment strategies based on presentation, histopathology, and genomics. Early identification is critical, and complete surgical resection remains the primary treatment, although chemotherapy and radiation are used on individual bases. Presenting symptoms are often nonspecific; therefore, a high degree of suspicion is essential for early diagnosis. In this report, the management of a 37-year-old otherwise healthy male with a large RLPS causing right groin/testicular pain is presented. After three evaluations in the emergency department, the patient was diagnosed and received two cycles of doxorubicin/ifosfamide/mesna (AIM) neoadjuvant chemotherapy. His physical exam on presentation for second opinion demonstrated a large palpable abdominal mass and fullness around the right spermatic cord. There was no appreciable change in tumor size or distant metastases on repeat scanning. Given some obstructive symptoms, a multidisciplinary team advised neoadjuvant radiation followed by radical resection of RLPS. Final pathology demonstrated a 31-cm grade II well-differentiated (WD) liposarcoma with low-grade dedifferentiation. Scattered foci of microscopic positive WD margins were noted, and the remainder of margins were negative. Genomic evaluation showed amplification of CDK4, MDM2, and FRS2. A concise literature review of common presentations, histopathology, genomics, and treatment information is discussed herein. Thorough physical exams, attention to subtle findings, appropriate medical imaging studies, and a high index of suspicion when evaluating vague symptomatology can lead to earlier diagnosis and treatment of RLPS, and ultimately better patient outcomes.
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