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Petersson F.,Charles University | Petersson F.,National University of Singapore | Vanecek T.,Charles University | Michal M.,Charles University | And 13 more authors.
Human Pathology | Year: 2012

To date, only a few cases of "rosette forming t(6;11), HMB45-positive renal carcinoma" have been published. In this article, we contribute further data on 4 cases of this rare entity. Patients were 3 women and 1 man with an age range of 20 to 54 years (median, 23 years). Follow-up (range, 3-5 years; median, 4 years) did not reveal any metastatic events or recurrences. All tumors were well circumscribed and mostly encapsulated with homogeneous gray to tan cut surfaces. No necrosis was seen. All tumors displayed a solid or solid/alveolar architecture and contained occasionally long and branching tubular structures composed of discohesive neoplastic cells and pseudorosettes. The presence of pseudorosettes was a constant finding, but the number of pseudorosettes varied significantly among cases. All cases displayed focal immunoreactivity for the melanocytic marker HMB45, cathepsin K, and vimentin. Melan A, tyrosinase, cytokeratins, CD10, and microphthalmia transcription factor were each positive in 3 of 4 cases. On ultrastructural examination, numerous electron-dense secretory cytoplasmic granules with some resemblance to melanosomes were identified. The pseudorosettes were composed of reduplicated basement membrane material surrounded by small lymphocyte-like neoplastic cells. Using reverse transcription polymerase chain reaction, 2 tumors were positive for the Alpha-TFEB fusion transcript. The presence of the translocation t(6;11)(Alpha-TFEB) was confirmed in 2 analyzed cases. No von Hippel-Lindau tumor suppressor gene mutation, promotor methylation or loss of heterozygosity of 3p was found. Losses of part of chromosome 1 and chromosome 22 were found in one case. © 2012 Elsevier Inc. All rights reserved. Source

Petersson F.,National University Hospital Singapore | Petersson F.,Charles University | Gatalica Z.,Creighton University | Grossmann P.,Charles University | And 11 more authors.
Virchows Archiv | Year: 2010

Hybrid oncocytic/chromophobe tumors (HOCT) of the kidney have been described in patients with Birt-Hogg-Dubé syndrome (BHD) and in association with renal oncocytosis without BHD. HOCT in patients without evidence of BHD or renal oncocytosis is exceedingly rare, and these cases have been poorly characterized. We have identified and studied 14 cases of HOCT from previously diagnosed renal oncocytomas (398 cases) and chromophobe renal cell carcinomas (351 cases) without evidence of BHD or renal oncocytosis. Immunohistochemical, ultrastructural, and molecular genetic studies analyzing numerical chromosomal changes, loss of heterozygosity for chromosome 3p, and mutation status of VHL, c-kit, PDGFR, and folliculin (FLCN) genes were performed. HOCTs were identified in nine men and five women (age range 40-79 years). The size of tumors ranged from 2 to 11 cm. All tumors displayed a solid alveolar architecture and were composed of cells with abundant granular eosinophilic oncocytic cytoplasm with perinuclear halos. Occasional binucleated neoplastic cells were present, but irregular, hyperchromatic, wrinkled (raisinoid) nuclei were absent. The cytoplasm contained numerous mitochondria of varying sizes, but only sparse microvesicles with amorphic lamellar content were found. Tumors were positive for CK7 (12/14), AE1-AE3 (14/14), anti-mitochondrial antigen (14/14), E-cadherin (11/13), parvalbumin (12/14), and epithelial membrane antigen (14/14). Tumors were generally negative for racemase, CK20, CD10, and carboanhydrase IX. Interphase fluorescence in situ hybridization revealed multiple chromosomal losses and gains with a median of four (range 1-9) chromosomal aberrations per case. Monosomy of chromosome 20 was common and found in 7 of 14 cases. Monosomy of chromosomes 6 and 9 was present in 4 of 14 cases each, of which two cases displayed monosomy for both chromosomes 6 and 9. Polysomy of chromosomes 10, 21, and 22 was found in 4/14 cases each, of which one case displayed polysomy for all these three chromosomes. No pathogenic mutations were found in the VHL, c-kit, PDGFR, and folliculin (FLCN) genes. (1) We have shown that hybrid oncocytic/chromophobe tumors of the kidney do occur, albeit rarely, outside the Birt-Hogg-Dubé syndrome and without associated renal oncocytosis. (2) These tumors constitute a relatively homogenous group with histomorphologic features of both chromophobe renal cell carcinoma and renal oncocytoma. (3) Sporadic hybrid oncocytic/chromophobe renal tumors are characterized by multiple numerical aberrations (both mono- and polysomies) of chromosomes 1, 2, 6, 9, 10, 13, 17, 21, and 22 and lack of mutations in the VHL, c-kit, PDGFRA, and FLCN genes. (4) The tumors seem to behave indolently as no evidence of malignant behavior was documented in our series, although admittedly, the follow-up was too short to fully elucidate the biological nature of this rare neoplasm. At worst, these tumors could have a low malignant potential, which only can be found out with longer follow-up. © 2010 Springer-Verlag. Source

Andrioli M.,Centro Medico | Valcavi R.,Centro Palmer
Frontiers of Hormone Research | Year: 2016

Ultrasonography (US) represents the most sensitive and efficient method for the evaluation of the thyroid and parathyroid glands. Infectious and autoimmune thyroiditis are common diseases, usually diagnosed and followed up by clinical examination and laboratory analyses. Nevertheless, US plays an important role in confirming diagnoses, predicting outcomes and, in autoimmune hyperthyroidism, in titrating therapy. Conversely, in nodular thyroid disease US is the imaging method of choice for the characterization and surveillance of lesions. It provides consistent clues in predicting the risk of malignancy, thus directing patient referral for fine-needle aspiration (FNA) biopsy. Suspicious US features generally include marked hypoechogenicity, a shape taller than it is wide, ill-defined or irregular borders, microcalcifications and hardness at elastographic evaluation. Finally, the role of US in thyroid cancer is to evaluate extension beyond the thyroid capsule and to assess nodal metastases or tumor recurrence. The main application of US in parathyroid diseases is represented by primary hyperparathyroidism. In this condition, US plays a role after biochemical diagnosis, and it should always be strictly performed for localization purposes. In both thyroidal and parathyroid diseases, US is recommended as a guide in FNA biopsies. © 2016 S. Karger AG, Basel. Source

Vitacca M.,Fondazione S. Maugeri IRCCS | Grassi M.,University of Pavia | Barbano L.,Fondazione S. Maugeri IRCCS | Galavotti G.,Unita Pneumologica | And 13 more authors.
European Respiratory Journal | Year: 2010

We studied the family's perception of care in patients under home mechanical ventilation during the last 3 months of life. In 11 respiratory units, we submitted a 35-item questionnaire to relatives of 168 deceased patients exploring six domains: symptoms, awareness of disease, family burden, dying, medical and technical problems. Response rate was 98.8%. The majority of patients complained respiratory symptoms and were aware of the severity and prognosis of the disease. Family burden was high especially in relation to money need. During hospitalisation, 74.4% of patients were admitted to the intensive care unit (ICU). 78 patients died at home, 70 patients in a medical ward and 20 in ICU. 27% of patients received resuscitation manoeuvres. Hospitalisations and family economical burden were unrelated to diagnosis and mechanical ventilation. Families of the patients did not report major technical problems on the use of ventilators. In comparison with mechanical invasively ventilated patients, noninvasively ventilated patients were more aware of prognosis, used more respiratory drugs, changed ventilation time more frequently and died less frequently when under mechanical ventilation. We have presented good points and bad points regarding end-of-life care in home mechanically ventilated patients. Noninvasive ventilation use and diagnosis have impact on this burden. Copyright©ERS Journals Ltd 2010. Source

Bittencourt L.K.,Federal University of Rio de Janeiro | Matos C.,Free University of Colombia | Coutinho A.C.,Centro Medico
Magnetic Resonance Imaging Clinics of North America | Year: 2011

Recent technological achievements have enabled the transposition of diffusion-weighted imaging (DWI) with good diagnostic quality into other body regions, especially the abdomen and pelvis. Many emerging and established applications are now being evaluated on the upper abdomen, the liver being the most studied organ. This article discusses imaging strategies for DWI on the upper abdomen, describes the clinical protocol, and reviews the most common clinical applications of DWI on solid abdominal organs. © 2011 Elsevier Inc. Source

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