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Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. RCC is the most common type of kidney cancer in adults, responsible for approximately 90–95% of cases. RCC occurrence shows a male predominance over women with a ratio of 1.5:1. RCC most commonly occurs between 6th and 7th decade of life.
Kidney cancer, also known as renal cancer, is a group of cancers that starts in the kidney. Symptoms may include blood in the urine, lump in the abdomen, or back pain. Fever, weight loss, and tiredness may also occur. Complications can include spread to the lungs or brain.
Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human, adult onset, autosomal dominant genetic disorder caused by the FLCN gene. It can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung. Kidney tumors, both cancerous and benign, occur in 14–34% of people with BHD; the associated kidney cancers are often rare hybrid tumors.
An oncocytoma is a tumor made up of oncocytes, epithelial cells characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. The cells and the tumor that they compose are often benign but sometimes may be premalignant or malignant.
A chromophobe is a histological structure that does not stain readily, and thus appears relatively pale under the microscope.
Neprilysin, also known as membrane metallo-endopeptidase (MME), neutral endopeptidase (NEP), cluster of differentiation 10 (CD10), and common acute lymphoblastic leukemia antigen (CALLA) is an enzyme that in humans is encoded by the MME gene. Neprilysin is a zinc-dependent metalloprotease that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. It also degrades the amyloid beta peptide whose abnormal folding and aggregation in neural tissue has been implicated as a cause of Alzheimer's disease. Synthesized as a membrane-bound protein, the neprilysin ectodomain is released into the extracellular domain after it has been transported from the Golgi apparatus to the cell surface.
The tumor suppressor gene FLCN encodes the protein folliculin, also known as Birt–Hogg–Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. Folliculin (FLCN) is also associated with Birt–Hogg–Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts, and kidney tumors.
Ankyrin Repeat, PEST sequence and Proline-rich region (ARPP), also known as Ankyrin repeat domain-containing protein 2 is a protein that in humans is encoded by the ANKRD2 gene. ARPP is a member of the muscle ankyrin repeat proteins (MARP), which also includes CARP and DARP, and is highly expressed in cardiac and skeletal muscle and in other tissues. Expression of ARPP has been shown to be altered in patients with dilated cardiomyopathy and amyotrophic lateral sclerosis. A role for Ankrd2 in tumor progression and metastases spreading has also been described.
Prostasin is a protein that in humans is encoded by the PRSS8 gene.
Protein MAL2 is a protein that in humans is encoded by the MAL2 gene.
An oncocyte is an epithelial cell characterized by an excessive number of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. Oncocytes can be benign or malignant.
A renal oncocytoma is a tumour of the kidney made up of oncocytes, epithelial cells with an excess amount of mitochondria.
Renal medullary carcinoma is a rare type of cancer that affects the kidney. It tends to be aggressive, difficult to treat, and is often metastatic at the time of diagnosis. Most individuals with this type of cancer have sickle cell trait or rarely sickle cell disease, suggesting that the sickle cell trait may be a risk factor for this type of cancer.
Kidney tumours are tumours, or growths, on or in the kidney. These growths can be benign or malignant.
Metanephric adenoma (MA) is a rare, benign tumour of the kidney, that can have a microscopic appearance similar to a nephroblastoma, or a papillary renal cell carcinoma.
Computed tomography of the abdomen and pelvis is an application of computed tomography (CT) and is a sensitive method for diagnosis of abdominal diseases. It is used frequently to determine stage of cancer and to follow progress. It is also a useful test to investigate acute abdominal pain. Renal stones, appendicitis, pancreatitis, diverticulitis, abdominal aortic aneurysm, and bowel obstruction are conditions that are readily diagnosed and assessed with CT. CT is also the first line for detecting solid organ injury after trauma.
Clear cell papillary renal cell carcinoma (CCPRCC) is a rare subtype of renal cell carcinoma (RCC) that has microscopic morphologic features of papillary renal cell carcinoma and clear cell renal cell carcinoma, yet is pathologically distinct based on molecular changes and immunohistochemistry.
Clear-cell renal-cell carcinoma (CCRCC) is a type of renal-cell carcinoma.
Aquaporin-6, (AQP-6) also known as kidney-specific aquaporin is a protein in humans that is encoded by the AQP6 gene.
Papillary renal cell carcinoma (PRCC) is a malignant, heterogeneous tumor originating from renal tubular epithelial cells of the kidney, which comprises approximately 10-15% of all kidney neoplasms. Based on its morphological features, PRCC can be classified into two main subtypes, which are type 1 (basophilic) and type 2 (eosinophilic).
References
- ↑ Ruiz-Cordero, Roberto; Rao, Priya; Li, Lerong; Qi, Yuan; Atherton, Daniel; Peng, Bo; Singh, Rajesh R.; Kim, Tae-Beom; Kawakami, Fumi; Routbort, Mark J.; Alouch, Nail; Chow, Chi-Wan B.; Tang, Ximing; Lu, Wei; Brimo, Fadi; Matin, Surena F.; Wood, Christopher G.; Tannir, Nizar M.; Wistuba, Ignacio I.; Chen, Ken; Wang, Jing; Medeiros, L. Jeffrey; Karam, Jose A.; Tamboli, Pheroze; Sircar, Kanishka (November 2019). "Hybrid oncocytic/chromophobe renal tumors are molecularly distinct from oncocytoma and chromophobe renal cell carcinoma". Modern Pathology. 32 (11): 1698–1707. doi: 10.1038/s41379-019-0304-y . ISSN 1530-0285.
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