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Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.

BACKGROUND: Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affected individuals are histologically similar to sporadic chromophobe renal cell carcinoma (RCC) and sporadic renal oncocytoma. However, most sporadic tumors lack FLCN mutations and the extent to which the BHDS-derived renal tumors share genetic defects associated with the sporadi

Combined percutaneous radiofrequency ablation and ethanol injection of renal tumours: midterm results.

OBJECTIVES: To evaluate the safety and efficacy of combined percutaneous, image-guided, radiofrequency (RF) ablation and ethanol injection of renal tumours, and to present our midterm results. METHODS: Since February 2002, 27 consecutive patients (22 men, 5 women; age range: 39-84 yr; mean: 69) with 28 renal tumours (mean diameter: 2.87cm) were treated with combined percutaneous RF and ethanol ablation, and were prospectively evaluated. Twenty-five patients were considered nonsurgical candidates because of comorbid conditions (16 patients) or had previous nephrectomy (9 patients), and 2 had r

Utility of frozen section analysis of resection margins during partial nephrectomy.

OBJECTIVES: To evaluate the utility of routine intraoperative frozen-section histologic analysis during partial nephrectomy to ensure negative surgical margins. Partial nephrectomy has gained acceptance for surgical treatment of small renal cancers. Many surgeons send specimens for intraoperative frozen section histologic analysis to ensure negative margins. METHODS: We reviewed the records of 78 patients who underwent partial nephrectomy for presumed malignancy. Patient demographics, intraoperative findings, and pathologic and clinical outcomes were analyzed. RESULTS: Seventy-nine partial n

Association of genomic driver mutation, histologic subtype, and mTORC1 biomarker expression in mTOR pathway-altered renal tumors.

A widening spectrum of renal tumors is driven by alterations in mTOR pathway genes. We examined the relationship between the specific underlying genomic driver mutation, mTOR signaling activation and tumor histologic subtype among mTOR pathway-altered tumors. mTOR pathway activation was assessed by quantifying expression of GPNMB in 16 cases of eosinophilic vacuolated tumor (EVT), 13 cases of low grade oncocytic tumor (LOT), 10 cases of eosinophilic solid and cystic renal cell carcinoma (ESC-RCC), and 1 case of xanthomatous giant cell renal cell carcinoma (XGC-RCC), all with previous sequencin

Fluorescence in situ hybridization for detection of MAML2 rearrangements in oncocytic mucoepidermoid carcinomas: utility as a diagnostic test.

Oncocytic mucoepidermoid carcinoma poses diagnostic challenge because of its histologic overlap with other oncocytic salivary gland lesions, including Warthin tumor. Although the prognostic value of the t(11;19) MECT1-MAML2 fusion gene has been established in mucoepidermoid carcinoma, its diagnostic use in discriminating oncocytic mucoepidermoid carcinoma from histologic mimics is unexplored. We evaluated the translocation status in 14 cases of oncocytic mucoepidermoid carcinoma using a MAML2-11q21 break-apart probe spanning the entire chromosome region of the MAML2 gene and correlated these f

Effectiveness of peripheral thyrotropin receptor mRNA in follow-up of differentiated thyroid cancer.

Thyroid cells in peripheral circulation have been linked to thyroid cancer (TC). These cells express thyrotropin receptor (TSHR) messenger RNA (mRNA), which has been studied as a marker of initial TC diagnosis. We examined the utility of TSHR mRNA in long-term follow-up of TC patients. From 2002 to 2007, TSHR mRNA was prospectively measured by quantitative reverse-transcription polymerase chain reaction (RT-PCR) from peripheral blood samples in 259 patients, and those followed > or =3 months since initial thyroidectomy were studied. TSHR mRNA levels were correlated to thyroglobulin (Tg), imagi

Oncocytic Schneiderian papillomas: Clinical behavior and outcomes of the endoscopic endonasal approach in 33 cases.

BACKGROUND: The purpose of this study was to evaluate the clinical behavior of oncocytic Schneiderian papillomas in relation to the rate of malignant transformation and recurrences and to report the long-term results of the endoscopic endonasal treatment. METHODS: A retrospective analysis was carried out on patients with oncocytic papilloma, endoscopically managed over the past 20 years, at 2 university centers following a uniform policy. RESULTS: Thirty-three patients were treated between November 1991 and December 2010. The mean follow-up period was 62 months. We observed 2 cases of persis

Renal oncocytoma: a comparative clinicopathologic study and fluorescent in-situ hybridization analysis of 73 cases with long-term follow-up.

Clinical studies have confirmed that renal oncocytoma (RO) is a benign neoplasm with excellent prognosis. In diagnostically challenging cases of renal oncocytic epithelial neoplasms, fluorescent in-situ hybridization (FISH) is increasingly being used and its ability to distinguish RO from chromophobe renal cell carcinoma (ChRCC) has been documented. In this study, we evaluated the differential diagnostic contribution of FISH in cases of RO.Clinicopathologic data and glass slides from 73 patients with RO were reviewed; 20 cases of ChRCC were included for comparison. FISH analysis of formalin-fi

Oncocytic mucoepidermoid carcinoma of the parotid gland with CRTC1-MAML2 fusion transcript: report of a case with review of literature.

Oncocytic mucoepidermoid carcinoma is a very rare variant of mucoepidermoid carcinoma, composed predominantly of oncocytic cells. Most previously reported cases described the difficulty in histologic differentiation from other oncocytic tumors. Here we report a case of oncocytic mucoepidermoid carcinoma of parotid gland diagnosed by the detection of CRTC1-MAML2 fusion. A 53-year-old man had a left superficial parotidectomy conducted for 3-cm-sized mass. The resected tumor was composed almost exclusively of oncocytic tumor cells. With detailed histologic evaluation, scarce vacuolated tumor cell

In differentiated thyroid cancer, an incomplete structural response to therapy is associated with significantly worse clinical outcomes than only an incomplete thyroglobulin response.

BACKGROUND: We previously demonstrated the clinical utility of using response to therapy variables obtained during the first 2 years of follow-up to actively modify initial risk estimates which were obtained using standard clinic-pathologic staging systems. While our proposed dynamic risk stratification system accurately reclassified patients who demonstrated an excellent response to therapy as low-risk patients, it grouped patients with either biochemical or structural evidence of disease into a single incomplete response to therapy cohort. This cohort included a wide variety of patients rang

Educational Case: Atypical presentation of primary hyperparathyroidism with brown tumor.

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Совпадение в полном тексте источника
… cells. … Oxyphil cells are larger, round cells, with more acidophilic cytoplasm and many mitochondria. In adult parathyroid glands, adipose tissue makes up 10–30 % the parathyroid glands. …

Multimodality imaging localization of a giant functional parathyroid adenoma in a young fitness trainer with delayed recognition of hypercalcemia: A case report.

Giant parathyroid adenoma (GPA) is a rare cause of primary hyperparathyroidism (PHPT) whose symptoms overlap with normal training fatigue and dietary shifts that calcium testing gets delayed in active people. A 36-year-old male fitness trainer presented with 13 kg of unintentional weight loss over six months with weakness, and nocturia, all of which he and the physicians who first saw him attributed to his training regimen and protein supplementation. Serum calcium was 16.4 mg/dL and parathyroid hormone (PTH) 1127.4 pg/mL, with acute kidney injury and bilateral nephrolithiasis; protein electro

Совпадение в полном тексте источника
… Histopathology showed a well-encapsulated nodule composed of chief cells and oxyphil cells arranged in a macrofollicular pattern, with a fine capillary network and scattered degenerative nuclear change, but no mitotic activity, necrosis, capsular invasion, or vascular invasion. … The pathogenesis of a GPA of this kind is generally considered to reflect autonomous neoplastic transformation of parathyroid chief and oxyphil cells, with size correlating with duration of unchecked growth rather than with a fundamentally different biological process from smaller adenomas [ 33 , 34 …

The 2024 revised clinical guidelines on the management of thyroid tumors by the Japan Association of Endocrine Surgery.

The Japan Association of Endocrine Surgery published the first edition of the "Clinical guidelines on the management of thyroid tumors" in 2010 and the revised edition in 2018. The guideline presented herein is the English translation of the revised third edition, issued in 2024. The aim is to enhance health outcomes for patients suffering from thyroid tumors by facilitating evidence-based shared decision-making between healthcare providers and patients, as well as standardizing the management of thyroid tumors. The focus is on adult patients with thyroid tumors, addressing clinically signific

[18F]FDG-PET/CT texture analysis in thyroid incidentalomas: preliminary results.

Backgroundsignificance of incidental thyroid 2-deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) uptake on positron emission tomography/computed tomography (PET/CT) scans remains controversial. We aimed to evaluate the ability of [18F]FDG-PET/CT texture analysis to predict final diagnosis in thyroid incidentaloma.MethodsWe retrospectively evaluated medical records of all patients who performed a [18F]FDG-PET/CT from January 2012 to October 2016. Those patients who presented a thyroid incidentaloma described in the medical records and performed a fine needle aspiration in our institution were considered

Обязательный экзамен по патологии: лишний или необходимый?

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Rare Diseases of the Orbit.

This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space. That is the reason, why both the completeness and the level of detail in the description of particular diseases must be somewhat limited. Nevertheless, clinical manifestations, important aspects of diagnosis, treatment strategies, and, when specific data are a

Резюме: 31 Европейский конгресс патологии.

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34th Европейский конгресс патологии - резюме.

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