Tagliaferri Ariana R, Costanzo Caitlyn
Internal Medicine, St. Joseph's Regional Medical Center, Paterson, USA.
Colon and Rectal Surgery, Sidney Kimmel Medical Center Thomas Jefferson University, Philadelphia, USA.
Cureus. 2022 Feb 27;14(2):e22659. doi: 10.7759/cureus.22659. eCollection 2022 Feb.
Clear cell renal carcinoma (CCRC) is a common variant of renal cell carcinoma (RCC), which presents with unpredictable features. The occurrence of RCC in those with autosomal dominant polycystic kidney disease (ADPKD) is debated. Most studies agree that ADPKD does not increase the risk of RCC; however, it makes diagnosing RCC difficult due to the nature of the disease. RCC frequently metastasizes to the lungs, lymph nodes, bones, liver, adrenal glands, and brain, but rarely metastasizes to the colon. In all previous reports, primary RCC was already diagnosed in the kidneys; thus, metastatic CCRC to the colon has never been described in the current literature in the absence of a primary renal tumor. Here, we report a rare presentation of metastatic CCRC wherein a patient with ADPKD presented with an obstructing sigmoid mass six years after bilateral nephrectomy for pathologically benign cysts. Despite a close follow-up after nephrectomy, our patient's non-specific symptoms were attributed to underlying comorbidities and more likely etiologies of back pain, diarrhea, and anemia, thus delaying and complicating the diagnosis of CCRC which subsequently led to metastases at the time of presentation. Although past literature has described CCRC metastases to other parts of the gastrointestinal tract or even described primary clear cell carcinoma of the colon, this is the first case in which a patient with benign cystic renal disease developed CCRC presenting as metastatic disease of the colon, rectum, liver, and lung. This paper will address the manifestations of ADPKD and postulate mechanisms for the unpredictable nature of this patient's RCC metastasis.
透明细胞肾细胞癌(CCRC)是肾细胞癌(RCC)的一种常见变体,其表现具有不可预测性。常染色体显性多囊肾病(ADPKD)患者发生RCC的情况存在争议。大多数研究认为ADPKD不会增加RCC的风险;然而,由于该疾病的性质,它使得RCC的诊断变得困难。RCC常转移至肺、淋巴结、骨、肝、肾上腺和脑,但很少转移至结肠。在以往所有报告中,原发性RCC已在肾脏中被诊断出来;因此,在目前的文献中,在没有原发性肾肿瘤的情况下,从未描述过CCRC转移至结肠的情况。在此,我们报告一例罕见的转移性CCRC病例,一名ADPKD患者在因病理良性囊肿行双侧肾切除术后六年出现乙状结肠梗阻性肿块。尽管肾切除术后进行了密切随访,但我们患者的非特异性症状被归因于潜在的合并症以及更可能导致背痛、腹泻和贫血的病因,从而延迟并使CCRC的诊断复杂化,随后在就诊时导致了转移。尽管过去的文献描述了CCRC转移至胃肠道的其他部位,甚至描述了结肠原发性透明细胞癌,但这是首例患有良性囊性肾病的患者发生CCRC并表现为结肠、直肠、肝和肺转移性疾病的病例。本文将阐述ADPKD的表现,并推测该患者RCC转移不可预测性质的机制。