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Medicina (Kaunas, Lithuania) Jan 2021The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the... (Review)
Review
The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the lesion is cystic or solid. Cystic lesions can be managed using the Bosniak classification, while management of solid lesions depends on whether the lesion is well-defined or infiltrative. The approach to well-defined lesions focuses mainly on the differentiation between renal cancer and benign tumors such as angiomyolipoma (AML) and oncocytoma. Differential diagnosis of infiltrative lesions is wider, including primary and secondary malignancies and inflammatory disease, and knowledge of the patient history is essential. Radiologists may establish a possible differential diagnosis based on the imaging features of the renal masses and the clinical history. The aim of this review is to present the contribution of the different imaging techniques and image guided biopsies in the diagnostic management of cystic and solid renal lesions.
Topics: Abscess; Adenoma; Adenoma, Oxyphilic; Angiomyolipoma; Carcinoma, Renal Cell; Carcinoma, Transitional Cell; Contrast Media; Cysts; Humans; Kidney Diseases; Kidney Neoplasms; Leiomyoma; Lymphoma; Magnetic Resonance Imaging; Plasmacytoma; Pyelonephritis; Pyelonephritis, Xanthogranulomatous; Tomography, X-Ray Computed; Ultrasonography; Ultrasonography, Doppler, Color
PubMed: 33435540
DOI: 10.3390/medicina57010051 -
Nutrients Jul 2019There are striking inequities in calcium intake between rich and poor populations. Appropriate calcium intake has shown many health benefits, such as reduction of... (Review)
Review
There are striking inequities in calcium intake between rich and poor populations. Appropriate calcium intake has shown many health benefits, such as reduction of hypertensive disorders of pregnancy, lower blood pressure particularly among young people, prevention of osteoporosis and colorectal adenomas, lower cholesterol values, and lower blood pressure in the progeny of mothers taking sufficient calcium during pregnancy. Studies have refuted some calcium supplementation side effects like damage to the iron status, formation of renal stones and myocardial infarction in older people. Attention should be given to bone resorption in post-partum women after calcium supplementation withdrawal. Mechanisms linking low calcium intake and blood pressure are mediated by parathyroid hormone raise that increases intracellular calcium in vascular smooth muscle cells leading to vasoconstriction. At the population level, an increase of around 400-500 mg/day could reduce the differences in calcium intake between high- and middle-low-income countries. The fortification of food and water seems a possible strategy to reach this goal.
Topics: Adenoma; Aging; Blood Pressure; Bone Density; Calcium, Dietary; Colorectal Neoplasms; Humans
PubMed: 31311164
DOI: 10.3390/nu11071606 -
Oncotarget 2022Metanephric adenoma (MA) is an uncommon benign tumor accounting for 0.2-0.7% of adult renal epithelial neoplasms. The clinical course is often indolent, but diagnosis... (Review)
Review
INTRODUCTION
Metanephric adenoma (MA) is an uncommon benign tumor accounting for 0.2-0.7% of adult renal epithelial neoplasms. The clinical course is often indolent, but diagnosis should not be delayed since clinical symptoms (hematuria, fever, palpable abdominal mass, and flank pain) may be non-specific and overlap with those of a malign renal neoplasm. We report on 4 cases of AM, for which morphological and mutational analysis were performed.
MATERIAL AND METHODS
Immunohistochemical staining was performed on sections cut from paraffin blocks to assess expression of WT1, vimentin, racemase, CK7, CD10 and RCC. Testing for the BRAF gene mutation V600 was carried out using real-time PCR (Cobas 4800).
RESULTS
In all four cases, tumors were visible as well-circumscribed, non-encapsulated masses located in the renal cortex and extending towards the medulla. At immunohistochemical examination, tumor cells stained negative for CK7, CD10 and RCC and positive for both WT1 (nuclear, intense) and vimentin (cytoplasmic, intense, and diffuse). Molecular analysis revealed the BRAF gene mutation V600E in three cases and wild-type BRAF in the fourth.
CONCLUSIONS
BRAF molecular mutation analysis may aid diagnosis in cases with atypical histological features, especially in small incisional biopsies when reassessment of surgical treatment may be considered.
Topics: Adenoma; Adult; Biomarkers, Tumor; Carcinoma, Renal Cell; Humans; Kidney Neoplasms; Paraffin; Proto-Oncogene Proteins B-raf; Racemases and Epimerases; Vimentin
PubMed: 35198098
DOI: 10.18632/oncotarget.28192 -
Pathology Jan 2021It has been 35 years since Professor Thoenes and his colleagues discovered chromophobe renal cell carcinoma (RCC). Since then, our knowledge about this tumour entity has... (Review)
Review
It has been 35 years since Professor Thoenes and his colleagues discovered chromophobe renal cell carcinoma (RCC). Since then, our knowledge about this tumour entity has changed and novel tumour entities have been discovered. The aim of this review is to discuss recent molecular findings and open questions in diagnosing chromophobe-like/oncocytic neoplasms. The broader differential diagnosis of chromophobe-like and oncocytoma-like neoplasms includes SDH-deficient renal cell carcinoma, fumarate hydratase (FH) deficient RCC, epitheloid angiomyolipoma ('oncocytoma like'), MiT family translocation RCC and the emerging entity of eosinophilic solid and cystic renal cell carcinoma. After separation of these tumours from chromophobe RCC, it becomes evident that chromophobe RCC are low malignant tumours with a 5-6% risk of metastasis. Recent next generation sequencing (NGS) and DNA methylation profiling studies have confirmed Thoenes' theory of a distal tubule derived origin of chromophobe RCC and renal oncocytomas. Comprehensive genomic analyses of chromophobe RCC have demonstrated a low somatic mutation rate and identified TP53 and PTEN as the most frequently mutated genes, whereas 'unclassified' RCC with oncocytic or chromophobe-like features can show somatic inactivating mutations of TSC2 or activating mutations of MTOR as the primary molecular alterations. For the future, it would be desirable to create a category of 'oncocytic/chromophobe RCC, NOS' with the potential of further molecular studies for identification of TSC1/2 mutations in these rare tumours.
Topics: Adenoma, Oxyphilic; Carcinoma, Renal Cell; Diagnosis, Differential; Humans; Kidney Neoplasms
PubMed: 33183792
DOI: 10.1016/j.pathol.2020.09.015 -
American Journal of Kidney Diseases :... Apr 1996Renal oncocytoma is an uncommon benign renal neoplasm of unknown etiology. Bilateral, multicentric renal oncocytomas are rare and diffuse renal oncocytomas are even... (Review)
Review
Renal oncocytoma is an uncommon benign renal neoplasm of unknown etiology. Bilateral, multicentric renal oncocytomas are rare and diffuse renal oncocytomas are even rarer. We report a patient with incidentally detected marked bilateral nephromegaly due to innumerable oncocytomas. The term "oncocytomatosis" should be strictly applied to cases in which oncocytomas diffusely infiltrate the kidneys.
Topics: Adenoma, Oxyphilic; Biopsy; Chronic Disease; Diagnosis, Differential; Dilatation, Pathologic; Humans; Kidney; Kidney Neoplasms; Male; Middle Aged; Tomography, X-Ray Computed
PubMed: 8678070
DOI: 10.1016/s0272-6386(96)90170-5 -
Modern Pathology : An Official Journal... Oct 2022Renal oncocytoma and chromophobe renal cell carcinoma were accepted as unique renal tumors in the late 1990s. Since their formal description, criteria for diagnosis have... (Review)
Review
Renal oncocytoma and chromophobe renal cell carcinoma were accepted as unique renal tumors in the late 1990s. Since their formal description, criteria for diagnosis have evolved and additional distinct tumor subtypes originally considered as one these two entities are now recognized. The last two decades have witnessed unprecedented interest in the spectrum of low grade oncocytic renal neoplasms in three specific areas: (1) histologic characterization of tumors with overlapping morphologic features between oncocytoma and chromophobe renal cell carcinoma; (2) description of potentially unique entities within this spectrum, such as eosinophilic vacuolated tumor and low-grade oncocytic tumor; and (3) better appreciation of the association between a subset of low grade oncocytic tumors and hereditary renal neoplasia. While this important work has been academically rewarding, the proposal of several histologic entities with overlapping morphologic and immunophenotypic features (which may require esoteric adjunctive immunohistochemical and/or molecular techniques for confirmation) has created frustration in the diagnostic pathology and urology community as information evolves regarding classification within this spectrum of renal neoplasia. Pathologists, including genitourinary subspecialists, are often uncertain as to the "best practice" diagnostic approach to such tumors. In this review, we present a practical clinically relevant algorithmic approach to classifying tumors within the low grade oncocytic family of renal neoplasia, including a proposal for compressing terminology for evolving categories where appropriate without sacrificing prognostic relevance.
Topics: Adenoma, Oxyphilic; Biomarkers, Tumor; Carcinoma, Renal Cell; Diagnosis, Differential; Humans; Immunohistochemistry; Kidney; Kidney Neoplasms
PubMed: 35896615
DOI: 10.1038/s41379-022-01108-5 -
Frontiers in Endocrinology 2022The small RWD domain-containing protein called RSUME or RWDD3 was cloned from pituitary tumor cells with increasing tumorigenic and angiogenic proficiency. RSUME... (Review)
Review
The small RWD domain-containing protein called RSUME or RWDD3 was cloned from pituitary tumor cells with increasing tumorigenic and angiogenic proficiency. RSUME expression is induced under hypoxia or heat shock and is upregulated, at several pathophysiological stages, in tissues like pituitary, kidney, heart, pancreas, or adrenal gland. To date, several factors with essential roles in endocrine-related cancer appear to be modulated by RWDD3. RSUME regulates, through its post-translational (PTM) modification, pituitary tumor transforming gene (PTTG) protein stability in pituitary tumors. Interestingly, in these tumors, another PTM, the regulation of EGFR levels by USP8, plays a pathogenic role. Furthermore, RSUME suppresses ubiquitin conjugation to hypoxia-inducible factor (HIF) by blocking VHL E3-ubiquitin ligase activity, contributing to the development of von Hippel-Lindau disease. RSUME enhances protein SUMOylation of specific targets involved in inflammation such as IkB and the glucocorticoid receptor. For many of its actions, RSUME associates with regulatory proteins of ubiquitin and SUMO cascades, such as the E2-SUMO conjugase Ubc9 or the E3 ubiquitin ligase VHL. New evidence about RSUME involvement in inflammatory and hypoxic conditions, such as cardiac tissue response to ischemia and neuropathic pain, and its role in several developmental processes, is discussed as well. Given the modulation of PTMs by RSUME in neuroendocrine tumors, we focus on its interactors and its mode of action. Insights into functional implications and molecular mechanisms of RSUME action on biomolecular modifications of key factors of pituitary adenomas and renal cell carcinoma provide renewed information about new targets to treat these pathologies.
Topics: Adenoma; Humans; Hypoxia; Pituitary Neoplasms; Transcription Factors; Ubiquitins
PubMed: 35528020
DOI: 10.3389/fendo.2022.864780 -
Hormones (Athens, Greece) Mar 2024Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH)... (Review)
Review
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT). Such hereditary forms may occur in > 10% of patients with PHPT, and their recognition is important for implementation of gene-specific screening protocols and investigations for other associated tumors. Syndromic PHPT tends to be multifocal and multiglandular with most patients requiring parathyroidectomy with the aim of limiting end-organ damage associated with hypercalcemia, particularly osteoporosis, nephrolithiasis, and renal failure. Some patients with non-syndromic PHPT may have mutations of the MEN1 gene or the calcium-sensing receptor (CASR), whose loss of function mutations usually cause FHH1, a disorder associated with mild hypercalcemia and may follow a benign clinical course. Measurement of the urinary calcium-to-creatinine ratio clearance (UCCR) may help to distinguish patients with FHH from those with PHPT, as the majority of FHH patients have low urinary calcium excretion (UCCR < 0.01). Once genetic testing confirms a hereditary cause of PHPT, further genetic testing can be offered to the patients' relatives and subsequent screening can be carried out in these affected family members, which prevents inappropriate testing in normal individuals.
Topics: Infant, Newborn; Humans; Hyperparathyroidism, Primary; Calcium; Hypercalcemia; Adenoma; Fibroma; Hyperparathyroidism; Jaw Neoplasms
PubMed: 38038882
DOI: 10.1007/s42000-023-00508-9 -
The Journal of Clinical Endocrinology... Jan 2024A reninoma is a functional tumor of afferent arteriolar juxtaglomerular cells that secretes the enzyme renin, leading to hyperactivation of the...
A reninoma is a functional tumor of afferent arteriolar juxtaglomerular cells that secretes the enzyme renin, leading to hyperactivation of the renin-angiotensin-aldosterone system. Reninoma is a potentially curable cause of pathological secondary hyperaldosteronism that results in often severe hypertension and hypokalemia. The lack of suppression of plasma renin contrasts sharply with the much more common primary aldosteronism, but diagnosis is often prompted by screening for that condition. The major differential diagnosis of reninoma is renovascular hypertension. Fewer than 200 cases of reninoma have been described. Reninomas have been reported across a broad demographic but have a 2:1 predilection for women, often of childbearing age. Aldosterone receptor blockade, angiotensin-converting enzyme inhibitors, or angiotensin receptor blockers offer effective medical management but are contraindicated in pregnancy, so surgical curative resection is ideal. The current optimal imaging and biochemical workup of reninoma and management approach (ideally, tumor excision with subtotal renal resection) are described.
Topics: Humans; Female; Renin; Kidney Neoplasms; Kidney; Renin-Angiotensin System; Hyperaldosteronism; Adenoma; Aldosterone; Hypertension
PubMed: 37647894
DOI: 10.1210/clinem/dgad516 -
Cancer Cytopathology Dec 2020The goal of this study was to evaluate the morphology, immunoprofile, and management of renal oncocytoma (RO), hybrid oncocytic tumor (HOT), and chromophobe renal cell...
BACKGROUND
The goal of this study was to evaluate the morphology, immunoprofile, and management of renal oncocytoma (RO), hybrid oncocytic tumor (HOT), and chromophobe renal cell carcinoma (ChRCC).
METHODS
Forty-seven cases of RO, 7 cases of HOT, and 25 cases of ChRCC were included in the study. Tissue microarrays were prepared for immunohistochemical evaluation.
RESULTS
Large sheets of cells with transverse vessels, and higher nuclear grade were seen more often in ChRCC than in RO or HOT. Tumor cells of RO were more uniform in size and shape relative to HOT and ChRCC. The cytoplasmic features of RO were more uniformly granular relative to HOT and ChRCC, which exhibited variable cytoplasmic features. CK7 and MUC1 were expressed more frequently and diffusely in ChRCC (54% and 94%, respectively) than RO (4% and 52%, respectively) and HOT (0% and 71%, respectively). AMACR and PAX8 were more frequently expressed diffusely in RO (67% and 42%, respectively) than in HOT (0% and 0%, respectively) or ChRCC (14% and 11%, respectively). Most HOT (57%) and CHRCC (60%) patients underwent nephrectomy. Cryoablation was the treatment of choice for 24% of patients with ChRCC, 2% of patients with RO, and 0% of patients with HOT. The majority of patients with RO (88%) opted for active surveillance-a much higher rate than that for patients with HOT (29%) or ChRCC (12%).
CONCLUSION
Some cytologic features and immunomarkers are useful in differentiating RO, HOT, and ChRCC. Because no immunomarker or morphologic finding is specific by itself, a combination of morphologic features with immunohistochemistry appears to be the most reliable way to distinguish ChRCC, HOT, and RO on biopsy samples. Subclassification of renal oncocytic tumors into specific categories impacts clinical management and downstream treatment selection.
Topics: Adenoma, Oxyphilic; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Biopsy, Fine-Needle; Carcinoma, Renal Cell; Cytodiagnosis; Diagnosis, Differential; Disease Management; Female; Follow-Up Studies; Humans; Immunohistochemistry; Kidney Neoplasms; Male; Middle Aged; Nephrectomy; Prognosis; Retrospective Studies
PubMed: 32697415
DOI: 10.1002/cncy.22330