Large renal leiomyoma: A multidisciplinary approach to diagnosis

We report the case of a 45-year-old woman who presented with a large palpable abdominal mass. Initial sonographic and computed tomographic studies prompted a differential diagnosis of retroperitoneal or renal sarcoma, leiomyoma, and lipid-poor angiomyolipoma. A final diagnosis of renal leiomyoma was reached based on a consensus among radiology, surgery and pathology. In addition to reviewing the features of this entity, this case demonstrates the process of developing a working diagnosis, narrowing the differential as zadditional testing is performed and establishing a final diagnosis with interdepartmental coordination. Despite the rarity of this condition, the ability to recognize and apply imaging features to differentiate between abdominal masses of unknown origin is important for clinicians and researchers.     

肝脏上皮样血管平滑肌脂肪瘤MRI影像学特征及误诊分析

目的 探讨肝脏上皮样血管平滑肌脂肪瘤（HEAML）MRI影像学特征表现及误诊分析。方法 收集并回顾性分析2012年5月至2019年11月复旦大学附属中山医院经病理确诊的8例HEAML患者临床与影像资料,总结其MRI影像学特征,主要包括：平扫信号、DWI与ADC信号、化学位移成像、强化特点、是否含有供血动脉与引流静脉。结果 8例HEAML均为单发,术前诊断正确5例,2例误诊为肝腺瘤,1例误诊为肝细胞肝癌。T2WI多为高或高低混杂信号,T1WI多为低信号,DWI高或稍高信号,ADC多为等信号;化学位移成像6例有信号差异;增强动脉期多为明显强化,5例呈“快进慢出”,3例“快进快出”,3例渐进性强化并趋于均匀信号;4例见包膜,其中3例持续强化,1例延迟强化;3例见供血动脉,4例见引流静脉,2例见静脉早显。结论 MRI多序列综合分析有助于提高术前诊断准确率,HEAML具有化学位移成像中反相位较正相位见局灶性低信号,假包膜持续强化,供血动脉、引流静脉及静脉早显等MRI影像学特征。     

A Primary Epithelioid Angiosarcoma Arising in a Bilharzial Urinary Bladder: A Reappraisal and Case Report

Background: Angiosarcoma (AS) of the urinary bladder is a very rare and aggressive malignancy with a dismal outcome. Case report: Here, we report a primary epithelioid angiosarcoma (EAS) of the urinary bladder in a forty-nine-year-old male patient who presented with severe hematuria. Cystoscopic examination revealed hemorrhagic ulcerated bladder mucosa but no definite mass lesions. Intractable hematuria raised the initial clinical impression of idiopathic hemorrhagic cystitis. Analysis of the cystoscopic biopsy revealed features of old bilharzial cystitis, markedly atypical epithelioid endothelial cells arranged as primitive anastomosing vascular structures and expressing vascular markers. The diagnosis of EAS was established. The patient developed intractable severe hematuria, and a radical cystoprostatectomy was performed. The patient was started on chemotherapy but suddenly developed widespread distant metastasis (liver, lung, suprarenal glands, and lymph nodes) and succumbed to death two months after the surgery. Conclusion: To the best of these authors’ knowledge, we presented the first report of primary EAS arising in a bilharzial bladder. The relevant studies were discussed.     

Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literature

Tuberous Sclerosis is a complex genetic disease that has well-defined clinical criteria. These criteria don''t include pancreatic neuroendocrine tumors. We represent a rare case of a patient, with a non–functioning pancreatic neuroendocrine tumor and concomitant diagnosis of tuberous sclerosis complex, and basement membrane disease.The patient was diagnosed based on typical radiologic findings. We have suggested close monitoring and during follow-up studies, the disease was stable. Interestingly the patient tested negative for Tuberous Sclerosis Complex (TSC), which suggests that she might be a somatic mosaic and the mutation level in blood lymphocytes was below the detection level. Moreover, a heterozygous pathogenic variant p.(Gly774Arg) and a heterozygous likely pathogenic variant p.(Gly1465Asp) were identified in the COL4A4 gene. COL4A4 gene is responsible for causing autosomal dominant basement membrane disease. In this case report, we discuss clinical, radiologic, and genetic aspects of these diseases, as well as optimal treatment and follow-up strategies. Thus, by presenting this case we would like to increase awareness of pancreatic neuroendocrine tumors in TSC and emphasize the need for follow-up monitoring.     

Benign and low-grade superficial endothelial cell neoplasms in the molecular era

Vascular tumors are the most common mesenchymal neoplasms of the skin and subcutis, and they encompass a heterogeneous group with diverse clinical, histological, and molecular features, as well as biological behavior. Over the past two decades, molecular studies have enabled the identification of pathogenic recurrent genetic alterations that can be used as additional data points to support the correct classification of these lesions. The purpose of this review is to summarize the available data related to superficially located benign and low-grade vascular neoplasms and to highlight recent molecular advances with the role of surrogate immunohistochemistry to target pathogenic proteins as diagnostic biomarkers.