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The Journal of Urology Oct 2014
Topics: Adenoma, Oxyphilic; Aged; Biopsy; Diagnosis, Differential; Humans; Kidney Cortex; Kidney Neoplasms; Male; Tomography, X-Ray Computed
PubMed: 25046601
DOI: 10.1016/j.juro.2014.07.018 -
Clinical and Experimental Dermatology Jan 2018
Topics: Adenoma, Oxyphilic; Aged, 80 and over; Asymptomatic Diseases; Female; Humans; Lacrimal Apparatus; Skin Neoplasms
PubMed: 28940297
DOI: 10.1111/ced.13236 -
Thyroid : Official Journal of the... Apr 2019Hürthle cell tumors (HCT), including Hürthle cell adenomas (HCA) and Hürthle cell carcinomas (HCCs), arise in the thyroid gland and are defined in part by an... (Review)
Review
Hürthle cell tumors (HCT), including Hürthle cell adenomas (HCA) and Hürthle cell carcinomas (HCCs), arise in the thyroid gland and are defined in part by an accumulation of mitochondria. These neoplasms were long considered a subtype of follicular neoplasm, although HCT is now generally considered a distinct entity. HCTs exhibit overlapping but distinct clinical features compared to follicular tumors, and several studies have demonstrated that HCTs harbor distinct genomic alterations compared to other forms of thyroid cancer. Two studies recently reported the most complete characterization of the HCC genome to date. These studies assessed complementary cohorts of HCC specimens. The study by Ganly et al. consisted of a large panel of primary HCCs, including 32 widely invasive and 24 minimally invasive primary tumors. Exome and RNA sequencing of material isolated from fresh-frozen tumor specimens was performed. The study by Gopal et al. utilized exome and targeted sequencing to characterize the nuclear and mitochondrial genomes of 32 primary tumors and 38 resected regional and distant metastases using DNA isolated from formalin-fixed paraffin-embedded tissues. Here, HCC is briefly reviewed in the context of these studies.
Topics: Adenoma, Oxyphilic; Biomarkers, Tumor; Chromosomes, Human; DNA, Mitochondrial; Gene Rearrangement; Genetic Predisposition to Disease; Humans; Loss of Heterozygosity; Mutation; Phenotype; Prognosis; Risk Factors; Thyroid Neoplasms
PubMed: 30848171
DOI: 10.1089/thy.2019.0088 -
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 -
Arkhiv Patologii 2015The paper characterizes adrenocortical oncocytoma, a rare adrenal tumor, accompanied by Cushing's syndrome and estrogen and androgen production and provides histological...
The paper characterizes adrenocortical oncocytoma, a rare adrenal tumor, accompanied by Cushing's syndrome and estrogen and androgen production and provides histological and immunohistochemical features. The authors describe their observation of a 33-year-old female woman. It is shown that estimation of the malignant potential of adrenocortical oncocytomas requires a special approach and must be done using the Lin-Weiss-Bisceglia criteria.
Topics: Adenoma, Oxyphilic; Adrenal Cortex Neoplasms; Adult; Female; Gene Expression Regulation, Neoplastic; Humans; Immunohistochemistry; MART-1 Antigen; Synaptophysin; Tomography, X-Ray Computed
PubMed: 25868370
DOI: 10.17116/patol201577155- -
Frontiers in Endocrinology 2021It has been widely described that cancer genomes have frequent alterations to the epigenome, including epigenetic silencing of various tumor suppressor genes with... (Review)
Review
It has been widely described that cancer genomes have frequent alterations to the epigenome, including epigenetic silencing of various tumor suppressor genes with functions in almost all cancer-relevant signalling pathways, such as apoptosis, cell proliferation, cell migration and DNA repair. Epigenetic alterations comprise DNA methylation, histone modification, and microRNAs dysregulated expression and they play a significant role in the differentiation and proliferation properties of TC. In this review, our group assessed the published evidence on the tumorigenic role of epigenomics in Hurthle cell neoplasms (HCN), highlighting the yet limited, heteregeneous and non-validated data preventing its current use in clinical practice, despite the well developed assessment techniques available. The identified evidence gaps call for a joint endeavour by the medical community towards a deeper and more systematic study of HCN, aiming at defining epigenetic markers in early diagnose, allowing for accurate stratification of maligancy and disease risk and for effective systemic treatment.
Topics: Adenoma, Oxyphilic; Biomarkers, Tumor; DNA Methylation; Epigenesis, Genetic; Epigenomics; Gene Expression Regulation, Neoplastic; Humans
PubMed: 34108939
DOI: 10.3389/fendo.2021.674666 -
AJR. American Journal of Roentgenology Jun 2020This article provides a brief overview of the clinicopathologic and radiologic correlation of 12 renal neoplasms, encompassing the conventional subtypes of renal cell... (Review)
Review
This article provides a brief overview of the clinicopathologic and radiologic correlation of 12 renal neoplasms, encompassing the conventional subtypes of renal cell carcinoma and a few of the newly recognized subtypes from the 2016 World Health Organization classification of renal tumors. In addition, we touch upon infrequent neoplasms that may enter the differential diagnosis of a renal mass, with corresponding radiologic and gross images and histologic findings of case-based examples. Familiarity with the radiologic and pathologic characteristics of renal cell carcinoma and other renal neoplasms is important to correctly identify and treat these masses.
Topics: Adenoma; Adenoma, Oxyphilic; Angiomyolipoma; Carcinoma, Papillary; Carcinoma, Renal Cell; Contrast Media; Diagnosis, Differential; Humans; Kidney Neoplasms; Urothelium
PubMed: 32286867
DOI: 10.2214/AJR.20.22816 -
Endocrine Journal Nov 2016Oxyphilic cell carcinoma is a relatively rare type of differentiated thyroid carcinoma. We investigated the diagnosis of oxyphilic cell carcinoma based on surgical...
Oxyphilic cell carcinoma is a relatively rare type of differentiated thyroid carcinoma. We investigated the diagnosis of oxyphilic cell carcinoma based on surgical specimens and cytology to elucidate the indications for surgery for oxyphilic tumors. Among 330 patients pathologically diagnosed as having an oxyphilic cell carcinoma or adenoma, the incidence of carcinoma was 21%. The pathological diagnosis of oxyphilic cell carcinoma was related to tumor size (>4 cm). On cytology, 79% of the tumors were classified as category IV or greater by the Bethesda System for Reporting Thyroid Cytopathology (BSRTC), but no significant difference was established between category IV or greater and categories I-III regarding the incidence of carcinoma. Of 998 patients cytologically diagnosed as having oxyphilic cell tumors (BSRTC category IV), 426 underwent surgery and 66 (15%) were diagnosed as malignancies. In a univariate analysis, serum thyroglobulin (Tg) levels (>500 ng/dL) for anti-Tg antibody-negative patients, tumor size (>4 cm) and US class (≥3) significantly predicted malignant histology. A multivariate logistic analysis revealed that US finding was an independent predictor of malignant histology, and tumor size (>4 cm) also predicted malignancy when the Tg level was excluded from the variables. These findings suggest that, for thyroid tumors diagnosed as oxyphilic follicular neoplasms on cytology, surgical indications are tumors with US class ≥3, tumor size >4 cm, and Tg >500 ng/dL (with negative Tg-antibody). It is not appropriate to perform surgery for all cases for a precise histological classification, unlike the BSRTC recommendation.
Topics: Adenoma, Oxyphilic; Adolescent; Adult; Aged; Aged, 80 and over; Biopsy, Fine-Needle; Cytological Techniques; Female; Humans; Incidence; Japan; Male; Middle Aged; Prognosis; Thyroid Neoplasms; Ultrasonography; Young Adult
PubMed: 27465606
DOI: 10.1507/endocrj.EJ16-0268 -
International Journal of Molecular... Feb 2022Renal oncocytoma represents the most common type of benign neoplasm that is an increasing concern for urologists, oncologists, and nephrologists due to its difficult... (Review)
Review
Renal oncocytoma represents the most common type of benign neoplasm that is an increasing concern for urologists, oncologists, and nephrologists due to its difficult differential diagnosis and frequent overtreatment. It displays a variable neoplastic parenchymal and stromal architecture, and the defining cellular element is a large polygonal, granular, eosinophilic, mitochondria-rich cell known as an oncocyte. The real challenge in the oncocytoma treatment algorithm is related to the misdiagnosis due to its resemblance, at an initial radiological assessment, to malignant renal cancers with a completely different prognosis and medical treatment. Unfortunately, percutaneous renal biopsy is not frequently performed due to the possible side effects related to the procedure. Therefore, the majority of oncocytoma are diagnosed after the surgical operation via partial or radical nephrectomy. For this reason, new reliable strategies to solve this issue are needed. In our review, we will discuss the clinical implications of renal oncocytoma in daily clinical practice with a particular focus on the medical diagnosis and treatment and on the potential of novel promising molecular biomarkers such as circulating microRNAs to distinguish between a benign and a malignant lesion.
Topics: Adenoma, Oxyphilic; Carcinoma, Renal Cell; Diagnosis, Differential; Humans; Kidney Neoplasms; Nephrectomy
PubMed: 35269747
DOI: 10.3390/ijms23052603 -
Der Pathologe Nov 2021Recent developments in differential diagnosis have led to new knowledge about oncocytic renal neoplasms. (Review)
Review
BACKGROUND
Recent developments in differential diagnosis have led to new knowledge about oncocytic renal neoplasms.
OBJECTIVES
Overview of differential diagnosis of oncocytic tumours.
MATERIALS AND METHODS
We performed a literature search on oncocytic renal tumours and mapped known tumour types. Possible differential diagnoses are discussed.
RESULTS
Besides the tumour types already acknowledged by the 2016 WHO classification, there is new evidence regarding the group of hard-to-classify oncocytic neoplasms. Findings point to immunohistochemical and molecular characteristics that may lead to the establishment of new entities in the future. In addition, important differential diagnosis can now be identified, facilitating specific therapies for oncocytic renal tumours.
CONCLUSION
A correct diagnosis of oncocytic renal tumours not only improves prognostic assessment (and, if necessary, specific therapies) but is also clinically relevant regarding a possible association with hereditary tumour syndromes.
Topics: Adenoma, Oxyphilic; Carcinoma, Renal Cell; Diagnosis, Differential; Humans; Immunohistochemistry; Kidney Neoplasms
PubMed: 34468818
DOI: 10.1007/s00292-021-00979-w