Publications by authors named "Berjon A"

Article Synopsis
  • - Uterine sarcomas with KAT6B/A::KANSL1 fusion are a new type of tumor that show a mix of traits from low-grade endometrial stromal sarcomas and smooth muscle tumors, which can confuse initial diagnoses.
  • - A study involving 9 such cases found common features like expression of smooth muscle and endometrial stromal markers, as well as the presence of the KAT6B/A::KANSL1 fusion in all tumors.
  • - Despite their bland appearance, these tumors can be aggressive, with some patients experiencing severe outcomes, underscoring the need for accurate recognition and diagnosis for better treatment approaches.
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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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Article Synopsis
  • Angiosarcoma is a rare type of cancer that arises from the cells lining blood vessels, and current treatments for it are not very effective, making the search for new therapies important.
  • Researchers developed and studied cell line models in both 2D and 3D cultures to understand how the cancer cells grow and spread, proving these models useful for research in angiosarcoma.
  • A drug screening identified 8-amino adenosine as a promising candidate, showing effectiveness in reducing cell growth and invasion at low doses, but it didn't work better in combination with established cancer drugs like paclitaxel or gemcitabine.
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Purpose: Neoadjuvant endocrine treatment (NET) has become a useful tool for the downstaging of luminal-like breast cancers in postmenopausal patients. It enables us to increase breast- conserving surgery (BCS) rates, provides an opportunity for us to assess in vivo NET effectiveness, and allows us to study any biological changes that may act as valid biomarkers. The purpose of this study was to evaluate the safety and effectiveness of NET, and to assess the role of Ki67 proliferation rate changes as an indicator of endocrine responsiveness.

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Objectives: Cancer-related systemic inflammation has been associated with prognosis in multiple cancer types. Conversely, local inflammation, which is characterized by dense intratumoral immune infiltrates, is a favorable predictor of survival outcome. However, these survival associations are not well established in ovarian cancer, particularly in the less frequent endometrioid and clear cell endometriosis associated histotypes.

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Ovarian cancer (OC) is a life-threatening tumor and the deadliest among gynecological cancers in developed countries. First line treatment with a carboplatin/paclitaxel regime is initially effective in the majority of patients, but most advanced OC will recur and develop drug resistance. Therefore, the identification of alternative therapies is needed.

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There are three prognostic stratification tools used for endometrial cancer: ESMO-ESGO-ESTRO 2016, ProMisE, and ESGO-ESTRO-ESP 2020. However, these methods are not sufficiently accurate to address prognosis. The aim of this study was to investigate whether the integration of molecular classification and other biomarkers could be used to improve the prognosis stratification in early-stage endometrial cancer.

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Background: Eribulin has shown antitumour activity in some soft tissue sarcomas (STSs), but it has only been approved for advanced liposarcoma (LPS).

Methods: In this study, we evaluated the effect of eribulin on proliferation, migration and invasion capabilities in LPS, leiomyosarcoma (LMS) and fibrosarcoma (FS) models, using both monolayer (2D) and three-dimensional (3D) spheroid cell cultures. Additionally, we explored combinations of eribulin with other drugs commonly used in the treatment of STS with the aim of increasing its antitumour activity.

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Patients with endometrial cancer differ in terms of the extent of T-cell infiltration; however, the association between T-cell subpopulations and patient outcomes remains unexplored. We characterized 285 early-stage endometrial carcinoma samples for T-cell infiltrates in a tissue microarray format using multiplex fluorescent immunohistochemistry. The proportion of T cells and their subpopulations were associated with clinicopathological features and relapse-free survival outcomes.

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Article Synopsis
  • The study assessed the effectiveness of one-step nucleic acid amplification (OSNA) compared to traditional pathological ultrastaging for detecting sentinel lymph node metastasis in early-stage endometrial cancer patients.
  • A total of 526 sentinel lymph nodes from 191 patients were analyzed, revealing that OSNA identified metastasis in 19.7% of cases, while ultrastaging detected it in only 8.8%.
  • OSNA demonstrated high sensitivity (92%) and resulted in a reclassification of disease stage for some patients, highlighting its potential to better determine the need for additional treatment upon diagnosis.
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Low-grade and early-stage endometrioid endometrial carcinomas (EECs) have an overall good prognosis but biomarkers identifying patients at risk of relapse are still lacking. Recently, CTNNB1 exon 3 mutation has been identified as a potential risk factor of recurrence in these patients. We evaluate the prognostic value of CTNNB1 mutation in a single-centre cohort of 218 low-grade, early-stage EECs, and the correlation with beta-catenin and LEF1 immunohistochemistry as candidate surrogate markers.

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Low-grade, early-stage endometrial carcinoma (EC) is the most frequent malignant tumor of the uterine corpus. However, the molecular alterations that underlie these tumors are far from being fully understood. The purpose of this study is to describe dysregulated molecular pathways from EC patients.

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Introduction And Objective: Breast cancer can be classified into different molecular subtypes with important therapeutic and prognostic implications. Neoadjuvant chemotherapy (NAC) increases the possibility of performing conservative surgery and allows in vivo testing of the sensitivity of the tumor. Our aim was to evaluate the pathological response to NAC in relation to the molecular phenotype and the different definitions of the pathological response.

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Purpose: Treatment of recurrent ovarian carcinoma is a challenge, particularly for the clear cell (CCC) subtype. However, there is a preclinical rationale that these patients could achieve a benefit from antiangiogenic therapy. To assess this hypothesis, we used the growth modulation index (GMI), which represents an intrapatient comparison of two successive progression-free survival (PFS).

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The quality of pathological assessment is crucial for the safety of patients with cervical cancer if pelvic lymph node dissection is to be replaced by sentinel lymph node (SLN) biopsy. Central pathology review of SLN pathological ultrastaging was conducted in the prospective SENTIX/European Network of Gynaecological Oncological Trial (ENGOT)-CX2 study. All specimens from at least two patients per site were submitted for the central review.

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Background: Soft tissue sarcomas (STS) have a high risk of relapse in spite of the use of (neo)adjuvant chemotherapy. In this context, looking for new prognostic biomarkers is an interesting field of research. Our aim is to analyze the prognostic impact of neutrophil-to-lymphocyte ratio (NLR) and other serum markers in patients with STS who received chemotherapy with curative intent.

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Sarcomas are tumours of mesenchymal origin, which can arise in bone or soft tissues. They are rare but frequently quite aggressive and with a poor outcome. New approaches are needed to characterise these tumours and their resistance mechanisms to current therapies, responsible for tumour recurrence and treatment failure.

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Low-grade and early Federation for Gynecology and Obstetrics (FIGO) stage endometrioid endometrial carcinomas (EEC) have an excellent prognosis. However, approximately 10% of patients develop recurrence, which cannot be correctly predicted at diagnosis. We evaluated myoinvasive patterns as a prognostic factor of relapse in low-grade, early-stage EEC.

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Objective: To study clinical and pathological variables leading to a poor prognosis in a sample of uveal malignant melanoma patients who required eyeball enucleation as final treatment approach. All patients were seen and treated in the same public tertiary hospital in Madrid (Spain) within a 6-year time-period.

Materials And Methods: Longitudinal observational retrospective study.

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Background/aim: Predicting response to treatment in high-grade serous ovarian carcinoma (HGSOC) still remains a clinical challenge. The standard-of-care for first-line chemotherapy, based on a combination of carboplatin and paclitaxel, achieves a high response rate. However, the development of drug resistance is one of the major limitations to efficacy.

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A newborn boy presented with a progressively infiltrating and painful congenital ulcerated plaque on the back of his left foot. A partial excision was performed and histopathologic examination confirmed a diagnosis of a plexiform fibrohistiocytic tumor. This rare tumor usually appears in children and adolescents, with congenital presentations even more uncommon.

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Background: Recent reports have identified distinct genomic patterns in ovarian carcinoma, including proliferative and mesenchymal-like groups, with worse outcome. The exact mechanisms driving the onset and progression of these tumors are still poorly understood. Additionally, researchers are concerned about the correct subtype stratification of the available cell line models, and the exploration of alternatives to monolayer culture.

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Purpose: To compare the concordance in risk classification between the EndoPredict and the MammaPrint scores obtained for the same cancer samples on 40 estrogen-receptor positive/HER2-negative breast carcinomas.

Methods: Formalin-fixed, paraffin-embedded invasive breast carcinoma tissues that were previously analyzed with MammaPrint as part of routine care of the patients, and were classified as high-risk (20 patients) and low-risk (20 patients), were selected to be analyzed by the EndoPredict assay, a second generation gene expression test that combines expression of 8 genes (EP score) with two clinicopathological variables (tumor size and nodal status, EPclin score).

Results: The EP score classified 15 patients as low-risk and 25 patients as high-risk.

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Primary leiomyosarcoma arising from the ovarian vein is extremely rare, with only 10 cases reported in the literature. We report on a case of leiomyosarcoma of the left ovarian vein in a 67-year-old woman who presented with abdominal discomfort. Pelvic ultrasound revealed a large, solid, irregular mass in close relation to the left ovary.

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In addition to oncogenic drivers, signaling nodes can critically modulate cancer-related cellular networks to strength tumor hallmarks. We identify G-protein-coupled receptor kinase 2 (GRK2) as a relevant player in breast cancer. GRK2 is up-regulated in breast cancer cell lines, in spontaneous tumors in mice, and in a proportion of invasive ductal carcinoma patients.

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