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Molecular characterization of a thymic neuroblastoma in an adult associated wit...

Lérias, Sofia; Cabrera, Rafael; Branquinho-Ruivo, Leonor; Saramago, Ana; Stoehr, Robert; Agaimy, Abbas; Martins, Carmo

Neuroblastoma (NB) is extremely rare in adults, and anterior mediastinal location is even more unusual. We report a primary thymic NB in a 72-year-old male, who presented with the inappropriate antidiuretic hormone secretion (SIADH) syndrome. Molecular testing revealed copy number alterations of chromosome 3, i.e., loss of whole 3p and partial gain of distal 3q, including gain of copies of the PIK3CA gene. To t...


Benign Fibrous Histiocytoma of the Lung: A Case Report

Rosa, Rita; Moura, Cecília; Bravio, Ivan; Cabrera, Rafael; Rolim, Ricardo; Almodovar, Maria Teresa

A fibrous histiocytoma is a benign tumoral lesion generally localized in the dermis or the superficial subcutaneous tissue. Fibrous histiocytoma of the lung is a very rare tumor, with only a few cases in the literature. We present a case of a 48-year-old man, asymptomatic, with a solitary pulmonary nodule with a high metabolism in PET/TC. Given the location and suspicious hypermetabolism in PET/TC, the patient ...


Sarcomatoid spermatocytic tumour: report of a rare case and literature review

Dias, André Fontes; Dvindenko, Eugénia; Santos, Filipa; Cabrera, Rafael

Spermatocytic tumour (ST) accounts for 1% of testicular germ cell tumours. It is an indolent neoplasm with good prognosis. In approximately 6% of STs, sarcomatous dedifferentiation may occur, portending an aggressive behaviour and representing a significant diagnostic challenge that can lead to its misdiagnosis. Herein, we report the clinicopathological features of a patient with a sarcomatoid spermatocytic tum...


RAC1b overexpression stimulates proliferation and NF-kB-mediated anti-apoptotic...

Faria, Márcia; Matos, Paulo; Pereira, Teresa; Cabrera, Rafael; Cardoso, Bruno A.; Bugalho, Maria João; Silva, Ana Luísa

Overexpression of tumor-associated RAC1b has been recently highlighted as one of the most promising targets for therapeutic intervention in colon, breast, lung and pancreatic cancer. RAC1b is a hyperactive variant of the small GTPase RAC1 and has been recently shown to be overexpressed in a subset of papillary thyroid carcinomas associated with unfavorable outcome. Using the K1 PTC derived cell line as an in vi...


RAC1b overexpression stimulates proliferation and NF-kB-mediated anti-apoptotic...

Faria, Márcia; Matos, Paulo; Pereira, Teresa; Cabrera, Rafael; Cardoso, Bruno A.; Bugalho, Maria João; Silva, Ana Luísa

Overexpression of tumor-associated RAC1b has been recently highlighted as one of the most promising targets for therapeutic intervention in colon, breast, lung and pancreatic cancer. RAC1b is a hyperactive variant of the small GTPase RAC1 and has been recently shown to be overexpressed in a subset of papillary thyroid carcinomas associated with unfavorable outcome. Using the K1 PTC derived cell line as an in vi...


Cervical pecoma - case report

Montalvão, Pedro; Cabrera, Rafael; Cruz, João; Saraiva, José; Santiago, Nuno

PEComas (“perivascular epithelioid cell diferentiation tumors”) are mesenchymal tumours, usually benign, extremely rare, composed of perivascular epithelioid cells, with distinctive histologically and immunohistochemically characteristics.They are described in lung, kidney and liver, but are extremely rare in head and neck. The pertinence of this report is due to the rarity of this tumour and the difficulty of ...


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