Case of hereditary papillary renal cell carcinoma

Abstract

Renal cell carcinoma is the most common type of renal malignancy and it originates from the renal tubular epithelium. Due to the diversity in the histopathological and molecular characteristics, it is typically subclassified into five different categories. Papillary renal cell carcinoma is one subclassification and it includes two variants: sporadic and hereditary. Although the hereditary form comprises a smaller number of cases of papillary renal cell carcinoma, an understanding of the molecular pathways and genetic changes continues to play a significant role in the development of new targeted therapies. Along with recommending appropriate lifestyle modification, further investigation into the molecular pathogenesis of hereditary papillary renal cell carcinoma will continue to be invaluable for the clinical management of renal cell carcinoma. In this article, we discuss a case of the hereditary papillary renal cell carcinoma along with an overview of the disease.

Hereditary Papillary Renal Carcinoma: A Case Report

“…The development of HPRCC is caused by germline mutations to the proto-oncogene MET, which is located on chromosome 7q31-34 [5]. These mutations result in the constitutional activation of MET, a tyrosine kinase receptor found on the surface of renal epithelial cells [10]. MET is responsible for encoding the hepatocyte growth factor receptor (HGFR) and plays a crucial role in tumour growth, metastasis, and progression.…”

“…MET is responsible for encoding the hepatocyte growth factor receptor (HGFR) and plays a crucial role in tumour growth, metastasis, and progression. The mutations in HPRCC activate the tyrosine-kinase (TK) domain of MET, leading to the activation of the HGF/MET pathway, which stimulates cell growth, motility, and proliferation [10,11]. It is worth noting that MET mutations or alterations have also been observed in other types of cancer, including hepatocellular carcinoma, endometrial cancer, breast cancer, gastric cancer, and squamous cell carcinoma of the head and neck [12,13].…”

Review of hereditary leiomyomatosis renal cell carcinoma with focus on clinical and pathobiological aspects of renal tumors

“…Abdominal computed tomography (CT) scan show the hypodensity lesion in the kidney [9,20,26]. The contrast enhanced CT shows homogenous or inhomogenous and less enhanced mass [18,34,35,36].…”

“…Clear cell RCC, unclassified RCC, oncocytic tumor, cystic tumor, angiomyolipoma or Wilms tumor has been described [7,37,39,49,50,51,52,53]. The most important hallmark of HLRCC renal cancer is prominent eosinophilic nucleoli and perinucleolar clearing/haloes resembling cytomegaloviral inclusion [13,15,16,25,27,34,40]. Rhabdoid features or multinucleated tumor giant cells may be noted [25].…”

“…Among them, the distinction from papillary RCC and CDC is most important. The presence of prominent eosinophilic nucleoli and perinucleolar halo may be diagnostic clue to HLRCC renal tumors [13,15,16,25,27,34,40]. However, the association of cutaneous or uterine leiomyomas are the presence of family history of cutaneous and/or uterine leiomyomas, particularly occurring at the young age, or renal tumors are more vital diagnostic clues for the identification of HLRCC [55,56,57,58,59].…”