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Modern Pathology : An Official Journal... Nov 2015Oncocytomas are mostly benign tumors characterized by accumulation of defective mitochondria, and in sporadic cases, are associated with disruptive mitochondrial DNA...
Oncocytomas are mostly benign tumors characterized by accumulation of defective mitochondria, and in sporadic cases, are associated with disruptive mitochondrial DNA (mtDNA) mutations. However, the role mtDNA mutations have in renal tumors of Birt-Hogg-Dubé (BHD) patients and other renal oncocytomas with an apparent genetic component has not been investigated to date. Here we characterize the mitochondrial genome in different renal tumors and investigate the possibility of employing mtDNA sequencing analyses of biopsy specimens to aid in the differential diagnosis of oncocytomas. The entire mitochondrial genome was sequenced in 25 samples of bilateral and multifocal (BMF) renal oncocytomas, 30 renal tumors from BHD patients and 36 non-oncocytic renal tumors of different histologies as well as in biopsy samples of kidney tumors. mtDNA sequencing in BMF oncocytomas revealed that all tumors carry disruptive mutations, which impair the assembly of the NADH-ubiquinone oxidoreductase. Multiple tumors from a given BMF oncocytoma patient mainly harbor the same somatic mutation and the kidneys of these patients display diffuse oncocytosis. In contrast, renal oncocytomas of patients with BHD syndrome and renal tumors with different histologies do not show disruptive mtDNA mutations. Moreover, we demonstrate that it is feasible to amplify and sequence the entire mtDNA in biopsy specimens, and that these sequences are representative of the tumor DNA. These results show that pathogenic mtDNA mutations affecting complex I of the respiratory chain are strongly correlated with the oncocytoma phenotype in non-BHD-related renal tumors and that mtDNA sequences from biopsies are predictive of the tumor genotype. This work supports a role for mtDNA mutations in respiratory chain complexes as diagnostic markers for renal oncocytomas.
Topics: Adenoma, Oxyphilic; Aged; Birt-Hogg-Dube Syndrome; DNA Mutational Analysis; DNA, Mitochondrial; Diagnosis, Differential; Female; Fluorescent Antibody Technique; Humans; Kidney Neoplasms; Male; Middle Aged; Mutation; Polymerase Chain Reaction
PubMed: 26428318
DOI: 10.1038/modpathol.2015.101 -
Clinical Cancer Research : An Official... Aug 2018The diagnostic differential for CD117/KIT(+) oncocytic renal tumor biopsies is limited to benign renal oncocytoma versus chromophobe renal cell carcinoma (ChRCC);...
The diagnostic differential for CD117/KIT(+) oncocytic renal tumor biopsies is limited to benign renal oncocytoma versus chromophobe renal cell carcinoma (ChRCC); however, further differentiation is often challenging and requires surgical resection. We investigated clinical variables that might improve preoperative differentiation of CD117(+) renal oncocytoma versus ChRCC to avoid the need for benign tumor resection. A total of 124 nephrectomy patients from a single institute with 133 renal oncocytoma or ChRCC tumors were studied. Patients from 2003 to 2012 comprised a retrospective cohort to identify clinical/radiographic variables associated with renal oncocytoma versus ChRCC. Prospective validation was performed among consecutive renal oncocytoma/ChRCC tumors resected from 2013 to 2017. Tumor size and younger age were associated with ChRCC, and multifocality with renal oncocytoma; however, the most reliable variable for ChRCC versus renal oncocytoma differentiation was the tumor:cortex peak early-phase enhancement ratio (PEER) using multiphase CT. Among 54 PEER-evaluable tumors in the retrospective cohort [19 CD117(+), 13 CD117(-), 22 CD117-untested], PEER classified each correctly as renal oncocytoma (PEER >0.50) or ChRCC (PEER ≤0.50), except for four misclassified CD117(-) ChRCC variants. Prospective study of PEER confirmed 100% accuracy of renal oncocytoma/ChRCC classification among 22/22 additional CD117(+) tumors. Prospective interobserver reproducibility was excellent for PEER scoring (intraclass correlation coefficient, ICC = 0.97) and perfect for renal oncocytoma/ChRCC assignment (ICC = 1.0). In the largest clinical comparison of renal oncocytoma versus ChRCC to our knowledge, we identified and prospectively validated a reproducible radiographic measure that differentiates CD117(+) renal oncocytoma from ChRCC with potentially 100% accuracy. PEER may allow reliable biopsy-based diagnosis of CD117(+) renal oncocytoma, avoiding the need for diagnostic nephrectomy. .
Topics: Adenoma, Oxyphilic; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Biopsy; Carcinoma, Renal Cell; Cell Differentiation; Cohort Studies; Diagnosis, Differential; Female; Humans; Kidney; Kidney Neoplasms; Male; Middle Aged; Neoplasms; Nephrectomy; Proto-Oncogene Proteins c-kit; Retrospective Studies
PubMed: 29752278
DOI: 10.1158/1078-0432.CCR-18-0252 -
Clinical Imaging Feb 2023Radiomics is a type of quantitative analysis that provides a more objective approach to detecting tumor subtypes using medical imaging. The goal of this paper is to... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Radiomics is a type of quantitative analysis that provides a more objective approach to detecting tumor subtypes using medical imaging. The goal of this paper is to conduct a comprehensive assessment of the literature on computed tomography (CT) radiomics for distinguishing renal cell carcinomas (RCCs) from oncocytoma.
METHODS
From February 15th 2012 to 2022, we conducted a broad search of the current literature using the PubMed/MEDLINE, Google scholar, Cochrane Library, Embase, and Web of Science. A meta-analysis of radiomics studies concentrating on discriminating between oncocytoma and RCCs was performed, and the risk of bias was assessed using the Quality Assessment of Diagnostic Accuracy Studies method. The pooled sensitivity, specificity, and diagnostic odds ratio were evaluated via a random-effects model, which was applied for the meta-analysis. This study is registered with PROSPERO (CRD42022311575).
RESULTS
After screening the search results, we identified 6 studies that utilized radiomics to distinguish oncocytoma from other renal tumors; there were a total of 1064 lesions in 1049 patients (288 oncocytoma lesions vs 776 RCCs lesions). The meta-analysis found substantial heterogeneity among the included studies, with pooled sensitivity and specificity of 0.818 [0.619-0.926] and 0.808 [0.537-0.938], for detecting different subtypes of RCCs (clear cell RCC, chromophobe RCC, and papillary RCC) from oncocytoma. Also, a pooled sensitivity and specificity of 0.83 [0.498-0.960] and 0.92 [0.825-0.965], respectively, was found in detecting oncocytoma from chromophobe RCC specifically.
CONCLUSIONS
According to this study, CT radiomics has a high degree of accuracy in distinguishing RCCs from RO, including chromophobe RCCs from RO. Radiomics algorithms have the potential to improve diagnosis in scenarios that have traditionally been ambiguous. However, in order for this modality to be implemented in the clinical setting, standardization of image acquisition and segmentation protocols as well as inter-institutional sharing of software is warranted.
Topics: Humans; Carcinoma, Renal Cell; Adenoma, Oxyphilic; Kidney Neoplasms; Tomography, X-Ray Computed; Sensitivity and Specificity; Diagnosis, Differential
PubMed: 36459898
DOI: 10.1016/j.clinimag.2022.11.007 -
Modern Pathology : An Official Journal... Oct 2021Renal oncocytoma is the most common benign epithelial renal neoplasm. Several adverse features that would typically increase the stage of renal cell carcinomas are not...
Renal oncocytoma is the most common benign epithelial renal neoplasm. Several adverse features that would typically increase the stage of renal cell carcinomas are not uncommon in renal oncocytoma, including perinephric, sinus fat, or renal vein invasion. Herein, we report the largest single institutional series of renal oncocytoma with adverse pathologic features. The cohort comprised 50 patients, 38 were men (76%) and 12 were women (24%), with a mean age of 68 years (range, 50-87 years). All cases were diagnosed on nephrectomy specimens. No laterality predilection was noted. The tumors ranged in size from 1.5-15.7 cm (mean, 5.3 cm). Adverse pathologic features included perinephric fat invasion (n = 25; 50%), renal sinus fat invasion (n = 9; 18%), and renal vein invasion (n = 5; 10%). More than one adverse feature was seen in 11 tumors (22%). All tumors showed diffuse reactions to KIT (n = 40; 100%) and cyclin D1 (n = 27; 100%). Keratin 7 highlighted rare (<5%) scattered cells, as well as entrapped renal tubules (n = 21; 100%). Reaction to DOG1 was patchy in three tumors (n = 27; 11%) while reactions to vimentin (n = 31) and Hale colloidal iron special stain (n = 30) were negative. On follow-up, no tumor recurrence or metastasis was observed over a follow-up range of 1-144 months (mean, 54 months; median, 60 months). Our data suggest that adverse pathologic features in renal oncocytoma do not alter their benign course.
Topics: Adenoma, Oxyphilic; Aged; Aged, 80 and over; Cyclin D1; Female; Humans; Keratin-7; Kidney; Kidney Neoplasms; Male; Middle Aged
PubMed: 34103666
DOI: 10.1038/s41379-021-00849-z -
BMC Urology Jan 2017The goal was to assess the natural history and management of patients with pathologically proven bilateral (synchronous) RO after undergoing initial partial nephrectomy...
BACKGROUND
The goal was to assess the natural history and management of patients with pathologically proven bilateral (synchronous) RO after undergoing initial partial nephrectomy (PN).
METHODS
All patients underwent either robotic/laparoscopic or open PN by two experienced genitourinary oncologists from 2005-2013. Final pathology was determined by surgical excision, CT-guided percutaneous core biopsy (CT-biopsy) or fine needle aspiration (FNA). Patient demographics, tumor characteristics (pathologic data, location, size) type of surgery, pre/post estimated glomerular filtration rate (eGFR) and surgical complications were recorded.
RESULTS
Twelve patients were identified with bilateral RO. Median age at the time of surgery was 68 years (46-77) (Table 1). The median size of the largest tumor(s) resected was 2.75 cm (1.5-5.5 cm) and second largest tumor(s) was 1.75 cm (1.0-4.0 cm). Four patients underwent bilateral staged PN and one patient underwent simultaneous bilateral PN (horseshoe kidney). Two patients underwent RFA at the time of biopsy of the contralateral mass after PN. Five patients underwent CT-bx/FNA (5/5) of the contralateral mass followed by active surveillance. Mean follow up was 34 months. There was no significant change in median creatinine pre- and post-operatively. One patient was lost to follow up and one patient died of unknown causes 5 years post-operatively. eGFR decreased an average of 16.96% post-operatively, including a single patient whose eGFR increased by 7.8% after surgery and a single patient whose eGFR did not change (Table 2).
CONCLUSIONS
Patients with bilateral renal masses and pathologically proven RO can be safely managed with active surveillance after biopsy confirmation of the contralateral mass.
Topics: Adenoma, Oxyphilic; Aged; Aged, 80 and over; Biopsy, Fine-Needle; Biopsy, Large-Core Needle; Female; Humans; Image-Guided Biopsy; Kidney; Kidney Neoplasms; Male; Middle Aged; Nephrectomy; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 28081704
DOI: 10.1186/s12894-016-0190-2 -
The British Journal of Radiology Jul 2015To retrospectively evaluate the radiopathological features of adult metanephric adenoma (MA) and explore whether MA can be differentiated on CT images, including the...
OBJECTIVE
To retrospectively evaluate the radiopathological features of adult metanephric adenoma (MA) and explore whether MA can be differentiated on CT images, including the basis of their morphological features and enhancement patterns.
METHODS
18 consecutive MA cases (age range, 18-66 years; 9 males and 9 females) were pathologically proven and recruited in our study between January 2004 and June 2014. Unenhanced and contrast-enhanced CT were performed and correlated with corresponding pathological findings to differentiate between MA and other renal tumours. The enhancement pattern, lesion contour and presence of calcifications were evaluated.
RESULTS
On unenhanced CT scan, the most common (n = 15, 83.3%) CT imaging characteristics were the presence of homogeneity and well-defined solid renal masses; the minority (n = 3, 16.7%) were heterogeneous or centrally located low-attenuation masses. Contrast-enhanced CT image revealed hypoattenuating heterogeneous masses with varying degrees of contrast enhancement in 16 (88.9%) cases, in contrast to those without increased attenuation in 2 (11.1%) cases. Scattered calcification was found only in one case (5.6%). Pathological results revealed that a total of 6 (33.3%) cases had concomitant malignant carcinoma components; 2 (11.1%) patients had malignant MA; and pure MA was found in 10 cases, with a surprisingly high proportion of malignant tumours.
CONCLUSION
The positive-predictive values of "high" enhancement seemed relatively characteristic for the diagnosis of malignant and composite MA.
ADVANCES IN KNOWLEDGE
Radiopathological features of adult MA and exploring whether MA can be differentiated on CT images, including the basis of their morphological features and enhancement patterns.
Topics: Adenoma; Adolescent; Adult; Aged; Calcinosis; Contrast Media; Female; Humans; Kidney Neoplasms; Male; Middle Aged; Retrospective Studies; Tomography, X-Ray Computed; Young Adult
PubMed: 25966289
DOI: 10.1259/bjr.20140807 -
Indian Journal of Pathology &... 2023Renal oncocytoma is a benign renal neoplasm which has mostly been reported in adults. Occurrence in children is infrequent. To date, there are only six pediatric cases... (Review)
Review
Renal oncocytoma is a benign renal neoplasm which has mostly been reported in adults. Occurrence in children is infrequent. To date, there are only six pediatric cases of renal oncocytoma reported previously. Herein, we report a 13-year-old girl presented with hematuria for a week. Abdominal computed tomography showed a well-defined heterogeneous solid mass with a stellate central scar in the left kidney. The patient underwent a nephron sparing surgery. Histopathological and immunohistochemical findings confirmed the diagnosis of renal oncocytoma. Though uncommon, renal oncocytoma should be considered as the differential diagnosis of renal tumor in children. In addition, intranuclear inclusions were firstly described in this pediatric patient with unclear significance, which need a large cohort to summarize and analyze.
Topics: Adolescent; Female; Humans; Adenoma, Oxyphilic; Diagnosis, Differential; Kidney Neoplasms; Tomography, X-Ray Computed
PubMed: 38084552
DOI: 10.4103/ijpm.ijpm_264_22 -
Nihon Hinyokika Gakkai Zasshi. the... Mar 1996We investigated histopathological features of renal adenoma and latent renal cell carcinoma in order to find relationship between these two entities. (Comparative Study)
Comparative Study
PURPOSE
We investigated histopathological features of renal adenoma and latent renal cell carcinoma in order to find relationship between these two entities.
MATERIALS AND METHODS
Renal adenomas or latent renal cell carcinomas found macro- and microscopically in 2,201 autopsy materials were used. Histological examination was focused on the size, and the presence or absence of hemorrhage, necrosis and capsulation of tumors. Additionally, we analyzed morphologically the mean nuclear area (MNA), N/C ratio, mean nuclear volume (MNV) and nuclear roundness factor (NRF) using image analyzer system (CIA-10; Olympus).
RESULTS
A total of 71 foci of renal cortical tumor was found and classified into renal adenoma (59 foci), latent renal cell carcinoma (8 foci), and intermediate type (4 foci). Intermediate type contained of small element of clear cell and were difficult to distinguish from renal cell carcinoma or ordinary adenoma. The mean diameter of renal adenomas was 1.9 mm. The capsulation was found in only 3 foci (5.1%) of them, and bleeding and necrosis were found in none of them. On the other hand, the mean diameter of latent renal cell carcinoma and intermediate type were 15.7 mm and 6.6 mm, respectively, and larger than that of renal adenomas (p < 0.005). In latent renal cell carcinoma, capsulation were found in all foci, bleeding in 6 (75.0%) and necrosis in 3 (37.5%), and their incidence were significantly higher than those of adenoma (p < 0.005). In intermediate type, capsule and bleeding were found in each two foci. Morphologically, there were significant difference in MNV and NRF but no difference in MNA and N/C ratio between renal adenomas and latent renal cell carcinomas. Intermediate type was larger in NRF compared to adenoma.
CONCLUSION
Morphological characteristics of intermediate type resemble that of latent renal cell carcinoma in terms of tumor size, the presence of bleeding and capsule and NRF when compared to adenomas. These results suggest that, in some renal cell carcinoma, adenoma might be able to change to carcinoma.
Topics: Adenoma; Aged; Aged, 80 and over; Carcinoma, Renal Cell; Female; Humans; Kidney Neoplasms; Male; Middle Aged; Necrosis
PubMed: 8709443
DOI: 10.5980/jpnjurol1989.87.667 -
Journal of Clinical Laboratory Analysis May 2021Recently, our group showed that Vim3 is overexpressed in tissue samples of renal oncocytomas and Mxi-2 in clear cell renal carcinoma (ccRCC). The mechanism leading to...
BACKGROUND
Recently, our group showed that Vim3 is overexpressed in tissue samples of renal oncocytomas and Mxi-2 in clear cell renal carcinoma (ccRCC). The mechanism leading to the truncation of both proteins is known and involves with two miRs, both detectable in urine. Since the analysis of miRs is time-consuming, our aim was to identify the truncated proteins in urine instead. Furthermore, urine samples from small renal masses (SRMs) (n = 45, <4 cm) were analyzed to get a pre-surgical differentiation of the cancer subtypes.
METHODS
Urines were accessed from the urological biobank (n = 350). Proteins were isolated from urine samples, and Western blots were performed. Each sample was analyzed with ELISA for the expression of Vim3 and Mxi-2. A lateral flow assay was established. For the detection of SRMs, the miRs were isolated and qRT-PCR was performed.
RESULTS
A significant increase of Vim3 in urines from patients with oncocytoma (n = 20) was detectable with ELISA compared to all other subtypes of RCCs (chromophobe (n = 50), papillary (n = 40), ccRCC (n = 200), and controls (n = 40) (***p < 0.0001)). Mxi-2 was predominantly overexpressed in ccRCCs (***p < 0.0001). Lateral flow assay of Vim3 and Mxi-2 shows two bands in the case of oncocytoma and ccRCC indicating the specificity of this test. For SRMs, an overexpression of miR-15a/Mxi2 was detectable in urine samples from ccRCC and chromoRCC patients. In contrast to that, miR-498/Vim3 were predominantly overexpressed in oncocytoma patients.
CONCLUSION
Both proteins (Vim3 and Mxi-2) were detectable in patients' urines and can be used for the non-invasive differentiation of kidney cancers.
Topics: Adenoma, Oxyphilic; Biomarkers, Tumor; Carcinoma, Renal Cell; Diagnosis, Differential; Female; Humans; Kidney Neoplasms; Male; Middle Aged
PubMed: 33960011
DOI: 10.1002/jcla.23762 -
Medicine Sep 2023We aimed to explore the value of ultrasonic elastic imaging in the diagnosis of parathyroid hyperplasia and adenoma in patients with secondary hyperparathyroidism and...
We aimed to explore the value of ultrasonic elastic imaging in the diagnosis of parathyroid hyperplasia and adenoma in patients with secondary hyperparathyroidism and provide more evidence for clinical treatment. Forty patients who were on dialysis and underwent parathyroid surgery were selected All patients underwent routine ultrasound, ultrasound elasticity examination and blood biochemical examination before surgery, including calcium, phosphorus, parathyroid hormone (PTH), etc. According to postoperative results, adenoma group and hyperplasia group were divided into 2 groups. Receiver operating characteristic curve was drawn to evaluate the diagnostic efficacy and combined diagnostic efficacy of each index. The PTH levels significantly differed between the adenoma and hyperplasia groups (P < .001). The volume and blood flow grades significantly differed between the adenoma and hyperplasia groups (P < .001) The minimum of the adenoma group was 14.62 ± 6.79 kPa, mean was 19.42 ± 6.29 kPa, and maximum was 24.25 ± 6.35 kPa which were significantly different from those in the hyperplasia group (P < .05). The combinations of more than 6 indicators in the diagnosis of parathyroid adenoma resulted in an area under the curve of 0.892 (P < .001), and the sensitivity and specificity were 78.9% and 97.4%, respectively. Shear wave elastography can be used as an effective tool to distinguish secondary parathyroid hyperplasia from adenoma. When combined with PTH, conventional ultrasound blood flow grading and volume measurement, it has higher diagnostic efficacy.
Topics: Humans; Diagnosis, Differential; Elasticity Imaging Techniques; Hyperplasia; Renal Dialysis; Hyperparathyroidism, Primary; Parathyroid Hormone; Adenoma
PubMed: 37713846
DOI: 10.1097/MD.0000000000035079