Jia Liwei, Nadeem Urooba, Kapur Payal
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Kidney Cancer Program at Simmons Comprehensive Cancer Center, Dallas, TX, USA.
Int J Surg Pathol. 2025 Sep;33(6):1383-1392. doi: 10.1177/10668969251316909. Epub 2025 Feb 23.
. Primary renal well-differentiated neuroendocrine tumor may present a unique diagnostic and therapeutic challenge. In this retrospective study, we offered insights derived from our clinical experience. . A search of our institutional database (1998-2023) was performed to identify primary renal well-differentiated neuroendocrine tumors, followed by comprehensive clinical, histopathological and immunohistochemical analysis, with emphasis on potential diagnostic pitfalls. . Five primary renal well-differentiated neuroendocrine tumors were identified, all of which exhibited a combination of nested, trabecular and tubular growth patterns and renal parenchymal infiltration. Two tumors invaded into the renal sinus. The expression of commonly-used neuroendocrine markers was detected in 5 tumors and PAX8 immunostain was negative in all tumors. During a median follow-up of 119 months (range 12-142 months), one patient received adjuvant chemotherapy due to regional lymph node metastasis at the time of diagnosis. The patient was found to haveliver metastasis at 15 months after the surgery by imaging. This tumor harbored c.1/99T>A, p.V600E and c.35delC, p.S12fs variants. Liver metastasis was identified in another patient 142 months after his initial presentation. No local recurrence or distant metastasis was detected in other patients. . Our experience demonstrates that primary renal well-differentiated neuroendocrine tumors may exhibit indolent behavior, even tumors with local invasion. Most patients were managed with surgical resection alone. In daily practice, they may be misdiagnosed as renal cell carcinomas, especially in biopsy specimens, due to their rarity. Our study expands the clinicopathologic characteristics and immunohistochemical features of this rare entity to raise awareness, with emphasis on potential diagnostic pitfalls.
原发性肾高分化神经内分泌肿瘤可能带来独特的诊断和治疗挑战。在这项回顾性研究中，我们分享了临床经验所得的见解。通过检索我们机构的数据库（1998 - 2023年）来识别原发性肾高分化神经内分泌肿瘤，随后进行全面的临床、组织病理学和免疫组化分析，重点关注潜在的诊断陷阱。共识别出5例原发性肾高分化神经内分泌肿瘤，所有肿瘤均呈现巢状、小梁状和管状生长模式以及肾实质浸润的组合。2例肿瘤侵犯至肾窦。5例肿瘤均检测到常用神经内分泌标志物的表达，所有肿瘤的PAX8免疫染色均为阴性。在中位随访119个月（范围12 - 142个月）期间，1例患者因诊断时出现区域淋巴结转移而接受辅助化疗。术后15个月通过影像学检查发现该患者有肝转移。该肿瘤存在c.1/99T>A，p.V600E和c.35delC，p.S12fs变异。另一例患者在初次就诊142个月后出现肝转移。其他患者未检测到局部复发或远处转移。我们的经验表明，原发性肾高分化神经内分泌肿瘤可能表现出惰性病程，即使是有局部侵犯的肿瘤。大多数患者仅通过手术切除治疗。在日常实践中，由于其罕见性，它们可能被误诊为肾细胞癌，尤其是在活检标本中。我们的研究扩展了这种罕见实体的临床病理特征和免疫组化特征，以提高认识，重点关注潜在的诊断陷阱。
