Publications by authors named "Ignacio Ruz-Caracuel"

Alpha-smooth muscle actin (α-SMA) expression in the stroma is linked to the presence of cancer-associated fibroblasts and is known to correlate with worse outcomes in various tumors. In this study, using a GeoMx digital spatial profiling approach, we characterized the gene expression of the tumor and α-SMA-expressing stromal cell compartments in pancreatic neuroendocrine tumors (PanNETs). The profiling was performed on tissues from eight retrospective cases (three grade 1, four grade 2, and one grade 3).

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Context: DNA mismatch repair (MMR) deficiency (dMMR) testing is now recommended in endometrial cancer. Defect identification in the molecules participating in this pathway, or the presence of microsatellite instability, are commonly employed for this purpose. Novel methods are continuously evolving to report dMMR/microsatellite instability and to easily perform routine diagnoses.

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  • - Medullary thyroid carcinoma (MTC) is a rare cancer originating from the thyroid's neuroendocrine C-cells, and a new two-tier grading system based on tumor characteristics like proliferation and necrosis has been established to help predict patient outcomes.
  • - A transcriptomic analysis of 21 MTC samples revealed a significant upregulation of various genes in high-grade tumors, suggesting distinct molecular pathways involved in tumor aggressiveness, such as DNA damage repair and apoptosis.
  • - The study found that DLL3 expression is correlated with poorer survival rates in MTC patients, particularly when DLL3 is overexpressed in at least 50% of tumor cells, indicating its potential as a biomarker for aggressive disease. *
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Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer-related death in the Western world. The number of diagnosed cases and the mortality rate are almost equal as the majority of patients present with advanced disease at diagnosis. Between 4 and 10% of pancreatic cancer cases have an apparent hereditary background, known as hereditary pancreatic cancer (HPC) and familial pancreatic cancer (FPC), when the genetic basis is unknown.

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Objective: The aim of this study is to compare the response to first-line medical treatment in treatment-naive acromegaly patients with pure growth hormone (GH)-secreting pituitary adenoma (GH-PA) and those with GH and prolactin cosecreting PA (GH&PRL-PA).

Design: This is a retrospective multicentric study of acromegaly patients followed from 2003 to 2023 in 33 tertiary Spanish hospitals with at least 6 months of first-line medical treatment.

Methods: Baseline characteristics, first-line medical treatment strategies, and outcomes were analyzed.

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  • The study focuses on pancreatic ductal adenocarcinoma (PDAC) and how cancer stem cells (CSCs) contribute to its aggressive nature and resistance to therapies, particularly immune checkpoint inhibitors.
  • Researchers used a mouse model and primary tumor cell lines to identify CSC populations and their immune evasion strategies, discovering that the gene peptidoglycan recognition protein 1 (PGLYRP1) is significantly overexpressed in these cells.
  • The findings suggest PGLYRP1 plays a key role in helping CSCs evade immune responses, highlighting its potential as a new target for immunotherapy in PDAC patients.
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The Spanish Familial Pancreatic Cancer Registry (PANGENFAM) was established in 2009 and aims to characterize the genotype and phenotype of familial pancreatic cancer (FPC). Furthermore, an early detection screening program for pancreatic ductal adenocarcinoma (PDAC) is provided to healthy high-risk individuals from FPC and hereditary pancreatic cancer families (first-degree relatives). This article describes our experience over the last 10 years in high-risk screening.

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The objective of the study was to evaluate the efficacy of second-line therapies in patients with acromegaly caused by a growth hormone (GH) and prolactin (PRL) co-secreting pituitary neuroendocrine tumor (GH&PRL-Pit-NET) compared to their efficacy in patients with acromegaly caused by a GH-secreting pituitary neuroendocrine tumor (GH-Pit-NET). This is a multicenter retrospective study of patients with acromegaly on treatment with pasireotide and/or pegvisomant. Patients were classified in two groups: GH&PRL-Pit-NETs when evidence of hyperprolactinemia and immunohistochemistry (IHC) for GH and PRL was positive or if PRL were >200 ng/dL regardless of the PRL-IHC and GH-Pit-NETs when the previously mentioned criteria were not met.

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  • * This subtype is most commonly seen in the stomach, but it can be misdiagnosed in other areas due to lack of familiarity among medical professionals.
  • * The case study involves an 87-year-old man with this rare cancer located at the ampulla of Vater, which has unique anatomical features, and aims to enhance understanding of the behavior of these tumors.
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Pituitary neuroendocrine tumors (PitNETs) account for approximately 15% of all intracranial neoplasms. Although they usually appear to be benign, some tumors display worse behavior, displaying rapid growth, invasion, refractoriness to treatment, and recurrence. Increasing evidence supports the role of primary cilia (PC) in regulating cancer development.

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  • A study evaluated the differences in clinical presentation and surgical outcomes between two types of pituitary adenomas: growth hormone secreting (GH-PAs) and those that cosecrete growth hormone and prolactin (GH&PRL-PAs).
  • GH&PRL-PAs were found to occur more frequently as macroadenomas, had a lower average age at diagnosis, and were more likely to show signs of invasiveness and hypopituitarism compared to GH-PAs.
  • Despite these differences in presentation, both groups had similar rates of surgical success in terms of biochemical cure, although GH&PRL-PA patients experienced a higher incidence of permanent arginine-vasopressin deficiency
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Immunotherapy has demonstrated a role in the therapeutic landscape of a small subset of patients with colorectal carcinoma (CRC) that harbor a microsatellite instability (MSI-H) status due to a deficient DNA mismatch repair (dMMR) system. The remarkable responses to immune checkpoint inhibitors (ICIs) are now being tested in the neoadjuvant setting in localized CRC, where the dMMR/MSI-H status can be found in up to 15% of patients, with remarkable results obtained in NICHE2 and 3 trials, among others. This case series aims to report our experience at a tertiary center and provide a comprehensive analysis of the possible questions and challenges to overcome if ICIs were established as standard of care in a neoadjuvant setting, as well as the potential role they may have as conversion therapy not only in locoregional advanced CRC but also in oligometastatic disease.

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  • This study examines the surgical outcomes and predictive factors for long-term survival in patients who underwent surgery for adrenal metastasis at two Spanish hospitals from 2005 to 2021.
  • A total of 33 patients participated, with most undergoing laparoscopic surgery; the majority had lung or kidney tumors, and synchronous metastasis was linked to a higher risk of complications.
  • Results showed that the average progression-free survival was 7.5 months, and disease-specific survival was 22.5 months, with lower survival rates seen in patients with lung cancer compared to those with other types.
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Distinguishing colon carcinoma that is surrounded by well-circumscribed lymphoid tissue from adenomas involving lymphoglandular complexes can be difficult. We assessed a multi-institutional international cohort of 20 colorectal carcinomas with associated prominent lymphoid infiltrates, which we referred to as lymphoglandular complex-like carcinoma (LGCC). We collected clinical and endoscopic features, including lesion size, endoscopic appearance, location, procedure, follow-up, AJCC stage, and mismatch repair status.

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  • The study aimed to assess how obesity and overweight affect surgical outcomes in patients undergoing adrenalectomy for adrenal tumors from 2010 to 2022.
  • Results indicated that 9.6% of patients were obese, 54.8% were overweight, and obesity correlated with higher blood pressure, dyslipidemia, and more bilateral tumors compared to non-obese patients.
  • Although overall complication rates were similar, obese patients faced significantly more postoperative complications and longer hospital stays, with obesity identified as a primary independent risk factor.
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  • * The study compared different methods for determining MMR status, including immunohistochemistry (IHC), PCR-based microsatellite instability (MSI) analysis, and targeted genetic sequencing, using 126 early-stage EC samples.
  • * Results showed that over half of the samples were deficient in MMR, with inconsistencies noted among testing methods, particularly between IHC and MSI assessments, highlighting the need for further research to find the best testing approach.
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Introduction: Over the years, the molecular classification of endometrial carcinoma has evolved significantly. Both POLEmut and MMRdef cases share tumor biological similarities like high tumor mutational burden and induce strong lymphatic reactions. While therefore use case scenarios for pretesting with tumor-infiltrating lymphocytes to replace molecular analysis did not show promising results, such testing may be warranted in cases where an inverse prediction, such as that of POLEwt, is being considered.

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Background: Endometrial cancer (EC) is the most common cancer of the female reproductive organs. Despite the good overall prognosis of most low-grade ECs, FIGO I and FIGO II patients might experience tumor recurrence and worse prognosis. The study of alterations related to EC pathogenesis might help to get insights into underlying mechanisms involved in EC development and progression.

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Pancreatic neuroendocrine neoplasms (pNENs) are rare cancers with broad challenges for their management. The main clinical obstacles are the high rate of patients diagnosed at advanced stages, lack of prognostic markers for early detection of disease recurrence in resected patients, significant limitations in identifying those who will benefit from adjuvant therapy, and timely recognition of treatment response. Therefore, the discovery of new prognostic and predictive markers is necessary for patient stratification and clinical management.

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Endometrial tumors show substantial heterogeneity in their immune microenvironment. This heterogeneity could be used to improve the accuracy of current outcome prediction tools. We assessed the immune microenvironment of 235 patients diagnosed with low-grade, early-stage endometrial cancer.

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Amyloid goitre is an infrequent benign entity characterized by a rapid increase in the size of the thyroid gland due to amyloid deposit in the parenchyma. Such an increase in size, which takes place over only a few months, can cause symptoms such as dyspnea, dysphagia and dysphonia. We present three cases diagnosed in the same centre and estimated its incidence.

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