Exploratory analysis of immunomodulatory factors identifies L1CAM as a prognostic marker in alveolar soft-part sarcoma.

Background: Alveolar soft-part sarcoma (ASPS) is a rare tumor driven by the ASPSCR1-TFE3 fusion protein, with a propensity for metastasis. Prognostic factors remain poorly understood, and traditional chemotherapies are largely ineffective. Recent interest lies in immune checkpoint inhibitors (ICIs), yet predictive biomarkers for treatment response are lacking.

REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial.

Background: Approximately 15% of adult GIST patients harbor tumors that are wild-type for KIT and PDGFRα genes (KP-wtGIST). These tumors usually have SDH deficiencies, exhibit a more indolent behavior and are resistant to imatinib. Underlying oncogenic mechanisms in KP-wtGIST include overexpression of HIF1α high IGFR signaling through the MAPK pathway or BRAF activating mutation, among others.

Perianal Paget's disease.

The incidence of extramammary Paget's disease (EMPD) is very low. It is very important to distinguish between primary Paget's disease and secondary to another process. An 85-year-old man consulted for the presence of an erythematous plaque located in the anal and gluteal area, confirming Paget cells in the biopsy.

Epithelioid Sarcoma in the Median Nerve of the Hand: A Case Report.

Epithelioid sarcoma of the peripheral nerves is extremely rare. We present a case concerning the median nerve of the right hand in a 35-year-old woman who was treated with radical resection, reconstructive surgery, and chemotherapy. After 2 years of follow-up, there is no evidence of local recurrence or metastatic dissemination.

Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.

Somatic mutational mosaicism is a common feature of monogenic genetic disorders, particularly in diseases such as retinoblastoma, with high rates of de novo mutations. The detection and quantification of mosaicism is particularly relevant in these diseases, since it has important implications for genetic counseling, patient management, and probably also on disease onset and progression. In order to assess the rate of somatic mosaicism (high- and low-level mosaicism) in sporadic retinoblastoma patients, we analyzed a cohort of 153 patients with sporadic retinoblastoma using ultra deep next-generation sequencing.

Expression of dog1 in low-grade fibromyxoid sarcoma: A study of 19 cases and review of the literature.

DOG1 is a highly-sensitive marker often included in the immunohistochemical panel for the diagnosis of gastrointestinal stromal tumors (GISTs). Recent research has shown that DOG1 may also be expressed by low-grade fibromyxoid sarcomas (LGFMSs); this may give rise to diagnostic error when the sarcoma is located in the abdominal cavity. This paper reports on immnohistochemical expression of DOG1 in 19 LGFMSs using two different monoclonal antibodies: K9 (Leica, Novocastra Laboratories, Newcastle upon Tyne, UK) and SP31 (Thermo Scientific, Freemont, USA).

A study of the suitability of autoencoders for preprocessing data in breast cancer experimentation.

Breast cancer is the most common cause of cancer death in women. Today, post-transcriptional protein products of the genes involved in breast cancer can be identified by immunohistochemistry. However, this method has problems arising from the intra-observer and inter-observer variability in the assessment of pathologic variables, which may result in misleading conclusions.

Epidemiology of Barrett's esophagus and esophageal adenocarcinoma in Spain. A unicentric study.

Introduction: Barrett's esophagus (BE) is an acquired disease defined by the presence of intestinal metaplasia with goblet cells in the distal esophagus. The prevalence of BE has increased dramatically over the last years.

Aims: The primary aims of the study were to analyze the characteristics of BE and esophageal adenocarcinoma (EAC) in a Spanish health district during a follow-up period.

Expression of developing neural transcription factors in diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH).

DIPNECH is characterized by neuroendocrine cell hyperplasia, tumorlets, and eventually carcinoid tumors. Although it is regarded by some authors as a preneoplastic condition, this issue is controversial. New pathologic criteria have recently been proposed for the diagnosis of DIPNECH, and a subgroup of carcinoid tumors expressing developing neural transcription factors (DNTFs), with clinicopathologic features similar to those of DIPNECH, has been recognized.

MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression.

Emerging evidence suggests that BRCA1 pathway contributes to the behavior of sporadic triple negative breast cancer (TNBC), but little is known about the mechanisms underlying this association. Considering the central role that microRNAs (miRNAs) play in gene expression regulation, the aim of this study was to identify miRNAs specifically deregulated in TNBC and investigate their involvement in BRCA1 regulation. Using locked nucleic acid (LNA)-based microarrays, expression levels of 1919 miRNAs were measured in paraffin-embedded tissues from 122 breast tumors and 11 healthy breast tissue samples.

Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection.

Background: The identification of novel biomarkers for early breast cancer detection would be a great advance. Because of their role in tumorigenesis and stability in body fluids, microRNAs (miRNAs) are emerging as a promising diagnostic tool. Our aim was to identify miRNAs deregulated in breast tumors and evaluate the potential of circulating miRNAs in breast cancer detection.

Endobronchial lipoma: a rare cause of bronchial occlusion.

Endobronchial lipoma is a rare benign neoplasm of the tracheobronchial tree. Despite its benign nature, associated endoluminal polypoid growth can cause bronchial occlusion. In this paper, we present the consequences of a late diagnosis of this condition.

Molecular findings of nasopharyngeal carcinoma in a European population.

Objective: To explore biomolecular characteristics of a group of patients with nasopharyngeal carcinoma from European (Spanish) hospitals, addressing the pathogenesis of the tumor and the response to treatment.

Study Design: Cyclin D1 and p16 expression were evaluated immunohistochemically in 33 tissue samples of nasopharyngeal carcinoma. CCDN1 gene amplification and p16 gene deletion were studied by fluorescence in situ hybridization.

Gastrointestinal stromal tumors (GISTs): role of CD 117 and PDGFRA Golgi-like staining pattern in the recognition of mutational status.

Aims: to determine whether potential correlations between CD117 and PDGFRA might serve as an indication for targeted therapies.

Material And Methods: immunohistochemical expression of CD117 and PDGFRA was evaluated in 99 paraffin-embedded GISTs in conjunction with KIT and PDGFRA mutational status.

Results: CD117-positive staining was noted in 93 out of 99 cases.

Old and new immunohistochemical markers for the diagnosis of gastrointestinal stromal tumors.

Gastrointestinal stromal tumors (GISTs) are generally CD117-positive and KIT or PDGFRA mutation-driven mesenchymal tumors of the gastrointestinal tract, probably originating in interstitial cells of Cajal or related precursors. CD117 is the best diagnostic marker for GISTs, but 5-10% are negative. Staining pattern may be cytoplasmic, membrane, and paranuclear (Golgi pattern).

Human papillomavirus detection by PCR assay in a large series of high-grade squamous intraepithelial lesions with cytohistological correlation and follow-up.

Objective: High-grade squamous intraepithelial lesions (HSIL) are the precursors of invasive cervical carcinomas and are generally associated with the integration of mucosotropic human papillomavirus (HPV) DNA into the host cell genome. Detection of HPV is easy to perform nowadays, even in laboratories with limited technological capacity, and follow-up procedures for patients with HSIL are well established.

Study Design: HPV detection was performed in a large group of patients with HSIL, and results were correlated with cytological, histological, and colposcopic findings.

Gastrointestinal stromal tumors: morphological, immunohistochemical and molecular changes associated with kinase inhibitor therapy.

Recurrent or metastatic GISTs are currently treated with kinase inhibitors since they achieves disease control in 70-85% of patients but this response depend on KIT and PDGFRA gene mutation status. We review the morfological and molecular findings associated to kinase inhibitors administration in GISTs based on the literature on Medline and authors' own experience. The initial response to kinase inhibitors (imatinib mesylate, Gleevec, Novartis) usually is partial and depend on the mutational KIT or PDGFRA state.

Spindle epithelial tumor with thymuslike differentiation in a 2-year-old boy: a case report.

Background: The spindle epithelial tumor with thymuslike differentiation (SETTLE) is a rare thyroid tumor believed to be derived from ectopic thymus tissue or the embryonic remnants of branchial pouches, which displays primitive thymic differentiation. Histologic observation of spindle cells may lead to confusion with other tumors the development and prognosis of which are very different. Differential diagnosis using histochemical markers is essential since although there is a tendency to develop blood-borne metastases, tumor growth is slow and the survival rate in patients followed up is as high as 70%.

Leiomyo-adenomatoid tumor of the uterus: a distinct morphological entity?

Introduction: The morphologic and immunohistochemical findings of a well-circumscribed leiomyoadenomatoid tumor located in the posterior uterine wall are reported.

Case Report: The patient was a 55-year-old white woman who complained of peri/postmenopausal and irregular bleeding during the past 4 months. The adenomatoid component was intermingled with bland smooth muscle fascicles and was composed of vacuolated cells, tubules, and slit-like structures crossed by epithelial bridges.