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Actas Dermo-sifiliograficas Apr 2012Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts,... (Review)
Review
Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The most common histological types found in renal tumors from patients with the syndrome are oncocytoma-chromophobe carcinoma hybrids and pure forms of chromophobe carcinoma, oncocytic carcinoma, and clear cell or papillary cell carcinoma. The syndrome is linked to mutations in the FLCN gene, which encodes folliculin and is preferentially expressed in the skin, kidney, and lung. The syndrome can exhibit a high degree of clinical variability, and the skin lesions that are a warning sign for dermatologists may be absent in up to 70% of cases. Consequently, although skin lesions and mutations in FLCN are the main diagnostic criteria for Birt-Hogg-Dubé syndrome, a diagnosis can be made based on noncutaneous manifestations, with or without known family history of the syndrome, even in the absence of histological confirmation of fibrofolliculomas or trichodiscomas.
Topics: Adenoma, Oxyphilic; Birt-Hogg-Dube Syndrome; Carcinoma, Renal Cell; Cysts; Diagnosis, Differential; Fibroma; Genes, Dominant; Germ-Line Mutation; Humans; Kidney Neoplasms; Lung Diseases; Pneumothorax; Proto-Oncogene Proteins; Skin Neoplasms; Tumor Suppressor Proteins
PubMed: 21937013
DOI: 10.1016/j.ad.2011.07.009 -
Brazilian Journal of Otorhinolaryngology 2009
Topics: Adenoma, Oxyphilic; Female; Humans; Middle Aged; Nasal Mucosa; Papilloma; Paranasal Sinus Neoplasms; Tomography, X-Ray Computed
PubMed: 19575123
DOI: 10.1016/s1808-8694(15)30797-7 -
Journal of Clinical Pathology Feb 1999The histopathology and ultrastructural features of an adrenocortical oncocytoma are reported. The tumour was discovered incidentally during investigation for...
The histopathology and ultrastructural features of an adrenocortical oncocytoma are reported. The tumour was discovered incidentally during investigation for hypertension in a 72 year old female. Oncocytic tumours of the adrenal cortex are rare, with only 20 examples described in English language reports. Most have been non-functioning and benign, like the present example. Molecular studies may help assess the significance of oncocytic change in the pathogenesis and behaviour of oncocytic neoplasms.
Topics: Adenoma, Oxyphilic; Adrenal Cortex Neoplasms; Aged; Female; Humans; Tomography, X-Ray Computed
PubMed: 10396247
DOI: 10.1136/jcp.52.2.151 -
Sao Paulo Medical Journal = Revista... Nov 2000Oncocytomas are generally small and present slow growth. Finding of the tumor usually occurs incidentally. Their incidence is higher among male patients. Oncocytomas in...
CONTEXT
Oncocytomas are generally small and present slow growth. Finding of the tumor usually occurs incidentally. Their incidence is higher among male patients. Oncocytomas in mucous bronchial glands are extremely rare.
CASE REPORT
A 35-year-old male who presented bronchial oncocytoma. The tumor was found after bronchoscopy that investigated an atelectasis of the upper left lobe. Histological examination with optical microscopy revealed a mature neoplasm formed by ovoid cells with thin, granular, eosinophilic cytoplasm and small nuclei similar to oncocytes. Electron microscopy showed mitochondrial hyperplasia. A three-year follow-up after thoracotomy followed by lobectomy and removal of the bronchial tumor was uneventful.
Topics: Adenoma, Oxyphilic; Adult; Bronchial Neoplasms; Follow-Up Studies; Humans; Male
PubMed: 11120552
DOI: 10.1590/s1516-31802000000600009 -
Cancer Cytopathology May 2021Hürthle cell-predominant thyroid fine needle aspirations (FNA) are encountered frequently in routine practice, yet they are often challenging to diagnose accurately and... (Review)
Review
Hürthle cell-predominant thyroid fine needle aspirations (FNA) are encountered frequently in routine practice, yet they are often challenging to diagnose accurately and are associated with significant interobserver variability. This is largely due to the ubiquity of Hürthle cells in thyroid pathology, ranging from nonneoplastic conditions to aggressive malignancies. Although limitations in cytomorphologic diagnoses likely will remain for the foreseeable future, our knowledge of the molecular pathogenesis of Hürthle cell neoplasia and application of molecular testing to cytologic material have increased dramatically within the past decade. This review provides context behind the challenges in diagnosis of Hürthle cell lesions and summarizes the more recent advances in diagnostic tools.
Topics: Adenoma, Oxyphilic; Animals; Biomarkers, Tumor; Cytodiagnosis; Humans; Thyroid Neoplasms
PubMed: 33108684
DOI: 10.1002/cncy.22375 -
Journal of Medical Imaging and... Aug 2010Focal incidental renal lesions are commonly encountered on positron emission tomography (PET)/computed tomography (CT) imaging. The vast majority of these lesions are... (Review)
Review
Focal incidental renal lesions are commonly encountered on positron emission tomography (PET)/computed tomography (CT) imaging. The vast majority of these lesions are benign. However, the interpretation of renal lesions can be problematic if the imaging criteria of simple cysts are not met. Limited literature exists on the characterisation of renal masses with metabolic imaging. The purpose of this article is to focus on the imaging features of benign and malignant renal masses with PET/CT. The lesions discussed include renal cyst, angiomyolipoma, oncocytoma, renal cell carcinoma, renal metastases and other infiltrating neoplastic processes affecting the kidney. Both the anatomical and metabolic features which characterise these benign and malignant entities are described. We emphasise the importance of viewing the CT component to identify the typical morphological features and discuss how to best use hybrid imaging for management of renal lesions. Metabolic imaging has a promising role in the imaging of renal lesions and can help prevent unnecessary biopsies and ensure optimal management of suspicious lesions.
Topics: Adenoma, Oxyphilic; Angiomyolipoma; Carcinoma, Renal Cell; Cysts; Fluorodeoxyglucose F18; Humans; Incidental Findings; Kidney; Kidney Diseases; Kidney Neoplasms; Leukemia; Lymphoma; Positron-Emission Tomography; Radiopharmaceuticals; Tomography, X-Ray Computed
PubMed: 20718915
DOI: 10.1111/j.1754-9485.2010.02181.x -
Frontiers in Endocrinology 2021The main objective of this study was to review the clinicopathologic characteristics and outcome of patients with oncocytic papillary thyroid carcinoma (PTC) and...
Oncocytic Papillary Thyroid Carcinoma and Oncocytic Poorly Differentiated Thyroid Carcinoma: Clinical Features, Uptake, and Response to Radioactive Iodine Therapy, and Outcome.
OBJECTIVE
The main objective of this study was to review the clinicopathologic characteristics and outcome of patients with oncocytic papillary thyroid carcinoma (PTC) and oncocytic poorly differentiated thyroid carcinoma (PDTC). The secondary objective was to evaluate the prevalence and outcomes of RAI use in this population.
METHODS
Patients with oncocytic PTC and PDTC who were treated at a quaternary cancer centre between 2002 and 2017 were retrospectively identified from an institutional database. All patients had an expert pathology review to ensure consistent reporting and definition. The cumulative incidence function was used to analyse locoregional failure (LRF) and distant metastasis (DM) rates. Univariable analysis (UVA) was used to assess clinical predictors of outcome.
RESULTS
In total, 263 patients were included (PTC [n=218], PDTC [n=45]) with a median follow up of 4.4 years (range: 0 = 26.7 years). Patients with oncocytic PTC had a 5/10-year incidence of LRF and DM, respectively, of 2.7%/5.6% and 3.4%/4.5%. On UVA, there was an increased risk of DM in PTC tumors with widely invasive growth (HR 17.1; p<0.001), extra-thyroidal extension (HR 24.95; p<0.001), angioinvasion (HR 32.58; p=0.002), focal dedifferentiation (HR 19.57, p<0.001), and focal hobnail cell change (HR 8.67, p=0.042). There was additionally an increased risk of DM seen in male PTC patients (HR 5.5, p=0.03).The use of RAI was more common in patients with larger tumors, angioinvasion, and widely invasive disease. RAI was also used in the management of DM and 43% of patients with oncocytic PTC had RAI-avid metastatic disease. Patients with oncocytic PDTC had a higher rate of 5/10-year incidence of LRF and DM (21.4%/45.4%; 11.4%/40.4%, respectively). Patients with extra-thyroidal extension had an increased risk of DM (HR 5.52, p=0.023) as did those with angioinvasion. Of the patients with oncocytic PDTC who received RAI for the treatment of DM, 40% had RAI-avid disease.
CONCLUSION
We present a large homogenous cohort of patients with oncocytic PTC and PDTC, with consistent pathologic reporting and definition. Patients with oncocytic PTC have excellent clinical outcomes and similar risk factors for recurrence as their non-oncocytic counterparts (angioinvasion, large tumor size, extra-thyroidal extension, and focal dedifferentiation). Compared with oncocytic PTCs, the adverse biology of oncocytic PDTCs is supported with increased frequency of DM and lower uptake of RAI.
Topics: Adenoma, Oxyphilic; Adult; Aged; Aged, 80 and over; Cohort Studies; Female; Humans; Iodine Radioisotopes; Male; Middle Aged; Neoplasm Invasiveness; Neoplasm Metastasis; Retrospective Studies; Thyroid Cancer, Papillary; Thyroid Neoplasms; Thyroidectomy; Treatment Outcome
PubMed: 34975765
DOI: 10.3389/fendo.2021.795184 -
Cancer Discovery Aug 2023A metabolic hallmark of cancer identified by Warburg is the increased consumption of glucose and secretion of lactate, even in the presence of oxygen. Although many...
UNLABELLED
A metabolic hallmark of cancer identified by Warburg is the increased consumption of glucose and secretion of lactate, even in the presence of oxygen. Although many tumors exhibit increased glycolytic activity, most forms of cancer rely on mitochondrial respiration for tumor growth. We report here that Hürthle cell carcinoma of the thyroid (HTC) models harboring mitochondrial DNA-encoded defects in complex I of the mitochondrial electron transport chain exhibit impaired respiration and alterations in glucose metabolism. CRISPR-Cas9 pooled screening identified glycolytic enzymes as selectively essential in complex I-mutant HTC cells. We demonstrate in cultured cells and a patient-derived xenograft model that small-molecule inhibitors of lactate dehydrogenase selectively induce an ATP crisis and cell death in HTC. This work demonstrates that complex I loss exposes fermentation as a therapeutic target in HTC and has implications for other tumors bearing mutations that irreversibly damage mitochondrial respiration.
SIGNIFICANCE
HTC is enriched in somatic mtDNA mutations predicted to affect complex I of the electron transport chain (ETC). We demonstrate that these mutations impair respiration and induce a therapeutically tractable reliance on aerobic fermentation for cell survival. This work provides a rationale for targeting fermentation in cancers harboring irreversible genetically encoded ETC defects. See related article by Gopal et al., p. 1904. This article is highlighted in the In This Issue feature, p. 1749.
Topics: Humans; Fermentation; Thyroid Neoplasms; Adenoma, Oxyphilic; DNA, Mitochondrial; Adenocarcinoma; Carcinoma
PubMed: 37262072
DOI: 10.1158/2159-8290.CD-22-0982 -
Endocrine Journal 2013A 46 year-old male presented with persistently high level of serum parathyroid hormone (PTH), despite successful resection of an oxyphilic cell parathyroid adenoma of... (Review)
Review
A 46 year-old male presented with persistently high level of serum parathyroid hormone (PTH), despite successful resection of an oxyphilic cell parathyroid adenoma of the left lower gland. Renal function and serum calcium were normal, leading to vitamin D deficiency being considered. Tc99m-sestamibi parathyroid scintigraphy showed no capitation, but a cervical ultrasound demonstrated an increase in the lower parathyroids. Surgery confirmed that the right gland was normal but the left corresponded to parathyroid carcinoma. The patient developed severe hypocalcemia, with PTH values being consistent with hypoparathyroidism for a few months. However, a progressive increase in calcium and PTH serum levels indicated recurrence of disease. Tc99m-sestamibi scintigraphy demonstrated hyperfixation in topography of the left inferior parathyroid and the patient was subjected to a third and more extensive surgery, with removal of lymph nodes and adjacent thyroid tissue. Serum calcium and PTH remained elevated, requiring loop diuretics and intravenous bisphosphonates to control hypercalcemia. Cervical radiotherapy was implemented as adjuvant therapy. After two months the patient complained of dyspnea, and a CT scan of the chest demonstrated areas of parenchymal condensation, suggestive of actinic pneumonitis. At the 2-year follow-up no major issues were evident.
Topics: Adenoma, Oxyphilic; Brazil; Carcinoma; Delayed Diagnosis; Diagnostic Errors; Humans; Hyperparathyroidism, Primary; Hypocalcemia; Male; Middle Aged; Neoplasms, Multiple Primary; Parathyroid Neoplasms; Radiotherapy, Adjuvant; Recurrence; Treatment Outcome
PubMed: 23268928
DOI: No ID Found -
Acta Otorhinolaryngologica Italica :... Dec 2009Hurthle cell carcinoma represents about 5% of differentiated thyroid carcinomas. The prognosis of the malignant type of the tumour is still under debate as some Authors... (Review)
Review
Hurthle cell carcinoma represents about 5% of differentiated thyroid carcinomas. The prognosis of the malignant type of the tumour is still under debate as some Authors have reported that Hurthle cell adenoma occasionally behaves like Hurthle cell carcinoma. Aim of the present study was to evaluate previously reported data and personal experience on the clinical and pathological features of patients affected by Hurthle cell tumour that may predict disease progression and death. In the literature, factors potentially associated with decreased survival were identified and include: age, disease stage, tumour size, extra-glandular invasion, lymph node disease, distant metastases, extensive surgery, radioiodine treatment. From 1992 to 2003, the Authors identified 28 patients affected by Hurthle cell tumour, 9 with Hurthle cell adenoma and 19 with Hurthle cell carcinoma. Of these, 22 were females and 6 males. Mean age of patients affected by adenoma was 49.7 years (range 30-72) vs. 49.3 years (range 15-72) in Hurthle cell carcinoma patients. In all patients, total thyroidectomy was performed. At histology, 9 adenomas, 5 "minimally invasive" and 14 invasive carcinomas were found. Post-operatively, in Hurthle cell carcinoma patients, TNM staging showed 9 patients with stage I, 5 stage II, 4 stage III and one stage IVa (UICC, 2002). All invasive carcinomas underwent (131)I therapy (91-585 mCi). One Hurthle cell carcinoma patient received external beam radiotherapy. The mean follow-up period was 62 months (range 6-324). Relapse was not observed in any of the cases with adenoma. Only one Hurthle cell carcinoma patient showed distant lung metastases at 60 months' follow-up. In conclusion, Hurthle cell carcinoma was not found to present a more aggressive behaviour than follicular carcinoma, when risk factors, including extent of tumour invasion, were taken into account. None of the patients with Hurthle cell adenoma showed a relapse or death caused by the tumour.
Topics: Adenoma, Oxyphilic; Adult; Aged; Female; Humans; Male; Middle Aged; Prognosis; Retrospective Studies; Thyroid Neoplasms
PubMed: 20463834
DOI: No ID Found