Publications by authors named "Nuria Santonja"

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, with proto-oncogene, receptor tyrosine kinase (), or mutations detected in around 85% of cases. GISTs without or platelet-derived growth factor receptor alpha () mutations are considered wild-type (WT), and their diverse molecular alterations and biological behaviors remain uncertain. They are usually not sensitive to tyrosine kinase inhibitors (TKIs).

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Introduction: High-grade serous ovarian cancer (HGSOC) is the second most frequent gynecological malignancy but the most lethal, partially due to the spread of the disease through the peritoneal cavity. Recent evidence has shown that, apart from their role in immune defense through phagocytosis and degranulation, neutrophils are able to participate in cancer progression through the release of neutrophil extracellular traps (NETs) in a process called NETosis. NETs are composed of DNA, histones, calprotectin, myeloperoxidase (MPO) and elastase and the NETosis process has been proposed as a pre-requisite for the establishment of omental metastases in early stages of HGSOC.

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Glioblastoma multiforme (GB) is one of the most aggressive tumors. Despite continuous efforts to improve its clinical management, there is still no strategy to avoid a rapid and fatal outcome. amplification is the most characteristic alteration of these tumors.

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Primary meningeal melanocytomas are rare tumors of the central nervous system. Although they are considered benign neoplasms, some reports describe recurrent rates up to 45%. Little is known about their genetic and epigenetic landscape because of their infrequency.

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Granular cell tumor, also known as Abrikossoff tumor, is a rare infrequent neoplasm of unclear etiology which has been rarely described in children. Involvement of the feet is extremely rare. We report a 7-year-old boy presenting a granular cell tumor on the sole.

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Elastic fibers are components of dermal connective tissue that can be affected in several acquired disorders. Recently, a new entity known as pseudoxanthoma-like papillary dermal elastolysis has been described. We present a case in a 61-year-old woman.

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Poroid neoplasm is a benign sweat gland neoplasm that accounts for 10% of sudoriferous tumors. Poroid hidradenoma is an uncommon variant that usually affects adults, with a peak of incidence in the seventh decade. It is rare in children.

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Eccrine angiomatous hamartoma (EAH) is a rare, benign malformation characterized by both eccrine and vascular components. It usually presents at birth or during early infancy and childhood as a nodule or a plaque, usually solitary, involving acral skin. Eccrine angiomatous hamartoma is usually asymptomatic, although focal hyperhidrosis, hypertrichosis, and pain can be observed.

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Mucoepidermoid carcinoma represents between 10-30% of primary carcinomas of the submandibulary, parotid and minor salivary glands. Cutaneous involvement is extremely rare and more, as a primary origin of the tumor. A few cases of primary mucoepidermoid carcinoma of the skin have been described.

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Primary cutaneous lymphoepithelioma-like carcinoma (LELC) is an extremely rare cutaneous neoplasm with histopathological features similar to those seen in the undifferentiated subtype of nasopharyngeal carcinoma. Microscopically, the tumor is well circumscribed and is composed of irregular nests of malignant epithelial cells in a background of reactive lymphoid cells including mature plasma cells. Its histogenesis remains unknown although an adnexal or epidermic origin has been proposed, and despite its poorly differentiated histology, the LELC prognosis is relatively good.

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Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression.

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