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Target therapy for metastatic colorectal cancer needs the determination of KRAS, NRAS, and BRAF mutation status to identify patients resistant to anti-EGFR treatment. RAS genes (KRAS/NRAS) are mutated in 40-60% of metastatic colorectal cancer and BRAF in 5-10%. The presence of a double mutation in RAS and BRAF is rare. Therefore, RAS and BRAF mutations were considered exclusive. Herein, we describe a novel concomitant NRAS/BRAF mutation identified in a series of 865 colorectal cancer patients.
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Neoplasias do Colo , Neoplasias Colorretais , Neoplasias Retais , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , GTP Fosfo-Hidrolases/genética , Mutação , Proteínas de Membrana/genéticaRESUMO
BACKGROUND: The MCP-1/CCR2 axis is one of the major chemokine signaling pathways that play a crucial role in the tumor microenvironment and has been involved in triggering various tumor progression mechanisms, such as increasing the immunosuppressive cells recruitment and promoting tumor cell proliferation and invasiveness. AIM: The current study investigated the association of MCP1 (rs1024611) and CCR2 (rs1799864) genes variants with the risk as well as prognosis of colorectal cancer (CRC) and colorectal liver metastases (CRLM). SUBJECTS AND METHODS: A retrospective cohort study involved 408 patients (284 CRC and 124 CRLM), and 284 healthy control was conducted. Genotyping of selected polymorphisms was performed by PCR-RFLP assays and confirmed by microchip and capillary electrophoresis. RESULTS: The results highlighted a positive association between MCP1 rs1024611 (non-AA) and CCR2 rs1799864 (GA) genotypes with increased CRC and CRLM risk. Correlation between SNPs and clinicopathological characteristics revealed a positive association between MCP1 rs1024611 and CCR2 rs1799864 (dominant model) and CRC poor prognosis features. Kaplan-Meier survival analysis revealed a significant association between MCP1 rs1024611 non-AA carriers and decreased survival rate. Neoadjuvant treatment showed an improvement in CRC and CRLM survival rates among carriers of MCP1 and CCR2 wild-type genotype. FOLFIRI chemotherapy exhibits reduced survival rates for patients who carried mutated genotypes of MCP1 and CCR2 polymorphisms. CONCLUSION: Considering our results, we suggest That both MCP1 and CCR2 polymorphisms may constitute independent factors for CRC and CRLM occurrence and can be helpful targets for an efficient therapeutic approach.
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Neoplasias Colorretais , Neoplasias Hepáticas , Humanos , Estudos de Casos e Controles , Estudos Retrospectivos , Fatores de Risco , Polimorfismo de Nucleotídeo Único/genética , Quimiocina CCL2/genética , Neoplasias Hepáticas/genética , Neoplasias Colorretais/genética , Receptores CCR2/genética , Microambiente TumoralRESUMO
BACKGROUND: Multiple sclerosis (MS) is characterized by a combination of inflammatory and demyelination processes in the spinal cord and brain. Conventional drugs generally target the autoimmune response, without any curative effect. For that reason, there is a great interest in identifying novel agents with anti-inflammatory and myelinating effects, to counter the inflammation and cell death distinctive of the disease. METHODS AND RESULTS: An in vitro assay showed that curcumin (Cur) at 10 µM enhanced the proliferation of C8-D1A cells and modulated the production of Th1/Th2/Th17 cytokines in the cells stimulated by LPS. Furthermore, two in vivo pathophysiological experimental models were used to assess the effect of curcumin (100 mg/kg). The cuprizone model mimics the de/re-myelination aspect in MS, and the experimental autoimmune encephalomyelitis model (EAE) reflects immune-mediated events. We found that Cur alleviated the neurological symptomatology in EAE and modulated the expression of lymphocytes CD3 and CD4 in the spinal cord. Interestingly, Cur restored motor and behavioral deficiencies, as well as myelination, in demyelinated mice, as indicated by the higher index of luxol fast blue (LFB) and the myelin basic protein (MBP) intensity in the corpus callosum. CONCLUSIONS: Curcumin is a potential therapeutic agent that can diminish the MS neuroimmune imbalance and demyelination through its anti-inflammatory and antioxidant effects.
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Curcumina , Encefalomielite Autoimune Experimental , Esclerose Múltipla , Animais , Anti-Inflamatórios/farmacologia , Anti-Inflamatórios/uso terapêutico , Curcumina/farmacologia , Curcumina/uso terapêutico , Modelos Animais de Doenças , Camundongos , Camundongos Endogâmicos C57BL , Modelos Teóricos , Esclerose Múltipla/metabolismoRESUMO
Langerhans cell histiocytosis (LCH) is a rare disorder of unknown etiopathogenesis. Diagnosis is based on the identification of CD1a positive histiocytic infiltrate. Activation of the mitogen-activated-protein-kinase (MAPK) is constantly observed in LCH and therefore downstream markers such as cyclin D1 may be a useful marker for LCH. The aim of this study was to investigate the expression of cyclin D1 in LCH. We assessed the immunohistochemical expression of cyclin D1 (clone SP4-R) in series of 16 cases of confirmed LCH. Expression of Cyclin D1 was scored as weak, moderate, and strong nuclear staining and results were interpreted by two pathologists. The percentage of positivity was assessed. The mean age of patients was 13.7 years old with a male to female ratio of 1:3. The most common involved site was bone (n = 9; 56,3%), followed by lymph node (n = 5; 31,2%) and skin (n = 2; 12,5%). All cases showed nuclear staining for cyclin D1 with variable intensity. It was assessed moderate in 43,8% (n = 7) and strong in 56,2% (n = 9). The percentage of positive cells was >50% in 13 cases and <50% in 3 cases. Our results have shown that all cases of Langerhans cell histiocytosis from various sites express cyclin D1. This finding may be attributed to MAPK pathway activation that has been described in LCH. Otherwise, cyclin D1 is not significantly expressed in reactive Langerhans cell proliferations. Therefore, cyclin D1 immunohistochemistry may be useful as a diagnostic marker and in excluding non-neoplastic mimics of LCH.
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Ciclina D1/análise , Histiocitose de Células de Langerhans/diagnóstico , Adolescente , Biomarcadores/análise , Ciclina D1/imunologia , Feminino , Histiocitose de Células de Langerhans/imunologia , Humanos , Imuno-Histoquímica , Masculino , Estudos RetrospectivosRESUMO
PURPOSE: Lamin A is a major component of the nuclear lamina maintaining nuclear integrity, regulation of gene expression, cell proliferation, and apoptosis. Its deregulation in cancer has been recently reported to be associated with its prognosis. However, its clinical significance in non-muscle invasive bladder cancer (NMIBC) remains to be defined. MATERIAL/METHODS: Immunohistochemical staining and RT-qPCR were performed to screen the expression patterns of Lamin A/C protein and Lamin A mRNA respectively in 58 high and low grade NMIBC specimens. RESULTS: Lamin A/C protein was expressed only in the nucleus and less exhibited in NMIBC tissues compared to non-tumoral ones. On the other side, Lamin A mRNA was up-regulated in NMIBC compared to controls. Nevertheless, both expression patterns (protein and mRNA) were not correlated to clinical prognosis factors and were not able to predict the overall survival of patients with high-grade NMIBC. CONCLUSIONS: The deregulation of A-type Lamin is not associated with the prognosis of NMIBC, but it could serve as a diagnostic biomarker distinguishing NMIBC patients from healthy subjects suggesting its involvement as an initiator event of tumorigenesis in our cohort.
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Laminas/metabolismo , Invasividade Neoplásica/genética , Invasividade Neoplásica/patologia , Recidiva Local de Neoplasia/genética , Neoplasias da Bexiga Urinária , Biomarcadores Tumorais/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Laminas/genética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/patologia , Prognóstico , RNA Mensageiro/genética , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/genética , Neoplasias da Bexiga Urinária/metabolismoRESUMO
Inflammatory Breast Cancer (IBC) is a rare and aggressive form of locally advanced breast cancer, classified as stage T4d according to the tumor-node-metastasis staging criteria. This subtype of breast cancer is known for its rapid progression and significantly lower survival rates compared to other forms of breast cancer. Despite its distinctive clinical features outlined by the World Health Organization, the histopathological characteristics of IBC remain not fully elucidated, presenting challenges in its diagnosis and treatment. Histologically, IBC tumors often exhibit a ductal phenotype, characterized by emboli composed of pleomorphic cells with a high nuclear grade. These emboli are predominantly found in the papillary and reticular dermis of the skin overlaying the breast, suggesting a primary involvement of the lymphatic vessels. The tumor microenvironment in IBC is a complex network involving various cells such as macrophages, monocytes, and predominantly T CD8+ lymphocytes, and elements including blood vessels and extracellular matrix molecules, which play a pivotal role in the aggressive nature of IBC. A significant aspect of IBC is the frequent loss of expression of hormone receptors like estrogen and progesterone receptors, a phenomenon that is still under active investigation. Moreover, the overexpression of ERBB2/HER2 and TP53 in IBC cases is a topic of ongoing debate, with studies indicating a higher prevalence in IBC compared to non-inflammatory breast cancer. This overview seeks to provide a comprehensive understanding of the histopathological features and diagnostic approaches to IBC, emphasizing the critical areas that require further research.
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Neoplasias da Mama , Neoplasias Inflamatórias Mamárias , Humanos , Feminino , Neoplasias Inflamatórias Mamárias/metabolismo , Neoplasias Inflamatórias Mamárias/patologia , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Microambiente TumoralRESUMO
INTRODUCTION: Ovarian steroid cell tumors not otherwise specified (OSCT-NOS) are extremely rare ovarian sex cord stromal tumors, accounting for <0.1 % of all ovarian tumors. In 25 % of cases, they are asymptomatic leading to a delay in diagnosis. We, herein, report a singular case of OSCT-NOS diagnosed incidentally during the spread assessment of an invasive breast carcinoma of no special type (IBC-NOS). To the best of our knowledge, this is the first reported case of co-occurrence of OSCT-NOS and IBC-NOS. We aim to study the clinic-pathological characteristics of this rare tumor. CASE PRESENTATION: A 56-years old postmenopausal female, with no previous medical history, was diagnosed with an invasive IBC-NOS. The tomography performed during the spread assessment of IBC-NOS showed a suspicious mass of the right ovary. Pelvic MRI revealed an ovarian solid T1 isointense and T2 hyperintense mass. The first evoked diagnosis was an ovarian metastasis of the IBC-NOS. The patient underwent bilateral salpingo-oophorectomy. On gross examination, an ovarian solid mass measuring 2,5x2cm, with a firm gray yellowish cut surface was noted. Microscopic examination and immunostaining concluded to OSCT-NOS and ruled out the diagnosis of an ovarian metastasis of IBC-NOS. CONCLUSION: OSCT-NOS are rare neoplasms. Their diagnosis might be challenging especially in absence of hormonal symptoms. A better knowledge of this rare entities would enable early diagnosis.
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Introduction: Immunotherapy by blocking immune checkpoints programmed death/ligand (PD1/PDL1) and cytotoxic T-lymphocyte-associated protein 4(CTLA4) has emerged as new therapeutic targets in cancer. However, their efficacy has been limited due to resistance. A new- checkpoint V-domain Ig-containing suppressor of T cell activation (VISTA) has appeared, but the use of its inhibition effect in combination with antibodies targeting PDL1/PD1and CTLA4 has not been reported in ovarian cancer. Methods: In this study, we investigated the expressions of VISTA, CTLA4, and PDL1 using immunohistochemistry (IHC)on 135 Formalin-Fixed Paraffin-Embedded (FFPE)tissue samples of High-grade serous carcinoma (HGSOC). VISTA, CTLA4, PDL1, PD1, CD8, CD4, and FOXP3 mRNA extracted from 429 patients with ovarian cancer in the Cancer Genome Atlas (TCGA) database was included as a validation cohort. Correlations between these checkpoints, tumor-infiltrating- lymphocytes (TILs), and survival were analyzed. Results and discussion: CTLA4 was detectable in 87.3% of samples, VISTA in 64.7%, PD1 in 56.7%, and PDL1 in 48.1%. PDL1 was the only tested protein associated with an advanced stage (p=0.05). VISTA was associated with PDL1, PD1, and CTLA4 expressions (p=0.005, p=0.001, p=0.008, respectively), consistent with mRNA level analysis from the TCGA database. Univariate analyses showed only VISTA expression (p=0.04) correlated with overall survival (OS). Multivariate analyses showed that VISTA expression (p=0.01) and the coexpression of VISTA+/CTLA4+/PD1+ (p=0.05) were associated with better OS independently of the clinicopathological features. Kaplan-Meier analysis showed that the coexpression of the VISTA+/CTLA4+/PDL1+ and VISTA+/CTLA4+/PD1+ checkpoints on tumor cells (TCs)were associated with OS (p=0.02 and p<0.001; respectively). VISTA+/CTLA4+/PD1+ in TCs and CD4+/CD8+TILswere associated with better 2-yer OS. This correlation may refer to the role of VISTA as a receptor in the TCs and not in the immune cells. Thus, targeting combination therapy blocking VISTA, CTLA4, and PD1 could be a novel and attractive strategy for HGSOC treatment, considering the ambivalent role of VISTA in the HGSOC tumor cells.
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Introduction: Follicular dendritic cell sarcomas (FDCS) are rare tumours, typically seen in lymph nodes. However, in about one third of the reported cases, a FDCS presents as an extranodal mass. Involvement of the gastrointestinal tract is rare, and the stomach is even rarer with only four cases described to date. The aim of this study was to review clinical characteristics, pathologic features, emphasize on differential diagnosis and discuss therapeutic modalities and prognosis of this rare entity.Case presentation: We report on a 36-year-old female patient with no past medical history, an incidentally discovered FDCS located in the stomach with the presence of lymph node metastasis at the time of diagnosis. The diagnosis of a FDCS was made on morphological and immunohistochemical findings where tumor cells expressed CD21 and CD23. The tumor was resected by gastrectomy with extended para-aortic lymphadenectomy, with uneventful postoperative course.Conclusions: Due to its rarity, FDCS is rarely included in the differential diagnosis of gastrointestinal spindle cell tumors. Complete surgical resection is the current gold standard of treatment.
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Introduction: Primary cutaneous CD8+ acral T-cell lymphoproliferative disorder (CD8+ ATCLPD) is a rare form of cutaneous T-cell lymphoma that commonly presents on the acral regions of the body. We report a case of a 61-year-old man diagnosed with primary cutaneous CD8+ ATCLPD of the ear. Case presentation: A 61-year-old man presented with a non-healing, erythematous painful macule on the ear that had been evolving for the past 3 months. The lesion was resected, and histopathological examination revealed a primary cutaneous CD8+ ATCLPD with acral localization. Further investigations including CT scan of the thorax, abdomen and pelvis were done to stage the disease. The results showed no extracutaneous involvement. Conclusion: Accurate identification of primary cutaneous CD8+ ATCLPD is crucial due to its distinct prognostic and therapeutic implications compared to other CD8+ cytotoxic lymphoid proliferations. Primary cutaneous CD8+ ATCLPD can be treated conservatively and typically follows a slow clinical course, regardless of the treatment method. Understanding the clinical context, as well as the morphological and immunophenotypic characteristics, can assist in making a precise diagnosis.
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INTRODUCTION AND IMPORTANCE: Malignant transformation within mature cystic teratomas is a rare occurrence, with an estimated risk ranging from 0.17 % to 2 %. Squamous cell carcinoma is the most common malignancy associated with this condition, while papillary thyroid carcinoma rarely presents within ovarian teratomas. This transformation predominantly affects postmenopausal women but can, albeit rarely, manifest in younger women. CASE PRESENTATION: We present a case of a 37-year-old woman who was incidentally found to have a right ovarian cyst measuring 20 × 20 × 10 mm during a cesarean section, displaying characteristic features of a teratoma. Histological examination confirmed the presence of papillary thyroid carcinoma originating within the ovarian mature cystic teratoma. Immunohistochemical analysis demonstrated positive staining for specific thyroid differentiation markers, including TTF1 and Thyroglobulin. The patient was in good health otherwise, with normal clinical and radiological evaluations of the thyroid, and no additional treatment was administered. Currently, seven years after surgery, the patient remains free of recurrence. DISCUSSION/CONCLUSION: Given the rarity of this condition, established treatment protocols are lacking, and its histogenesis remains uncertain. To advance our understanding of pathogenesis, prognosis, and therapeutic strategies for this malignant transformation, the publication of additional cases with similar presentations would be highly valuable.
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INTRODUCTION AND IMPORTANCE: Cervical esophageal cancer is a rare condition, accounting for less than 5 % of all esophageal malignancies. CASE PRESENTATION: We report here a case of a 65-year-old female patient with a history of breast cancer diagnosed in 1985 treated with surgery, adjuvant chemotherapy, and radiotherapy. This woman presented with chronic organic high dysphagia to both solid and liquids and food impaction. Gastroscopy showed a stenosing esophageal budding tumor located at 20 cm from the incisors. Histological examination showed a well-differentiated adenocarcinoma. CLINICAL DISCUSSION: The diagnosis of primary adenocarcinoma of the upper esophagus is based on a combination of clinical presentation, imaging studies, and confirmed by histopathological examination. Upper digestive endoscopy is the gold standard for the diagnosis of esophageal cancer. CONCLUSION: Primary adenocarcinoma of the upper esophagus is a rare form of esophageal cancer.
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INTRODUCTION AND IMPORTANCE: Cervical localization of uterine tumor resembling an ovarian sex cord tumor is very rare (UTROSCT) and this is the third case reported in the English literature. Given its rarity, the diagnosis is frequently challenging. Our aim was to discuss pathological characteristics and treatment choices of this rare disease happening in a rare location. CASE PRESENTATION: Our case interested a 19-year-old female patient who presented with a lower abdominal pain and irregular menstrual cycles for a duration of two months. Gynecological examination revealed a cervical firm mass. The patient underwent a cervical lumpectomy. Microscopically, the tumor had nested and trabecular/cord patterns. Tumor cells had abundant cytoplasm, ovoid and spindle-shaped nuclei with fine chromatin. Mitoses were < 1/10 HPFs. A delicate vascular network of small capillaries was noted. Immunohistochemical staining showed that tumor cells were positive for Calretinin, AE1/AE3, Desmin, progesteron receptors, SMA and h-caldesmon. Pathological examination concluded to an UTROSCT. CLINICAL DISCUSSION: UTROSC is a rare tumor with only two cases with cervical involvement reported so far. They have an indolent clinical history and thus require a more cautious and less invasive therapeutic decision. The diagnosis remains on the pathological examination. CONCLUSION: This case is original by its location and the age of presentation. Careful follow-up is necessary searching for local recurrence or metastasis.
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BACKGROUND/AIM: Type 2 diabetes mellitus (T2DM) and cardiovascular diseases (CVD) have a significant impact on the expression of genes in peripheral blood mononuclear cells (PBMCs). The primary objective of this study was to investigate the role of two signaling pathways, STAT1/6, and two important modulators of immunometabolism, leptin and PPARs, in the development of T2DM with and without CVD. Furthermore, the study aimed to assess the correlation between these factors and the dynamics of CD14 in PBMCs. This research was conducted within the context of a growing body of literature on the complex pathophysiology of T2DM and its association with CVD. Prior studies have indicated that T2DM is characterized by an imbalance in immunometabolism and the involvement of various signaling pathways. MATERIALS AND METHODS: Blood samples were collected from a total of 47 subjects, including 7 healthy volunteers, 20 individuals diagnosed with diabetes and cardiovascular disease (D.CVD) and another 20 individuals diagnosed with diabetes only (D). PBMCs were isolated from these samples, and the expression levels of leptin, PPARγ, PPARα, and CD14 genes were measured using Real-Time PCR. RESULTS: The most relevant result showed that diabetic patients with CVD had significantly higher levels of leptin expression, which was positively correlated with STAT1 (r = 0.7497, p = 0.0001). On the other hand, diabetic patients without CVD had elevated PPARγ expression, which was strongly correlated with STAT6 (r = 0.8437, p = 0.0001). Interestingly, we found a significant increase in the PPARγ/ PPARα ratio in the D.CVD group compared to the D group (4.273 ± 0.9531; 7.52 ± 3.556, p = 0.0479). Moreover, CD14 expression was significantly reduced in this group compared to diabetic patients without CVD. CONCLUSION: These findings suggested that the immunometabolic imbalance in T2DM was driven by a STAT1/Leptin phenotype in diabetic patients with CVD and by a STAT6/PPARγ phenotype in diabetic patients without CVD. Taking into account STAT1/Leptin and STAT6/PPARγ profiling could help clinicians identify novel therapeutic targets for T2DM and other related diseases.
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Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/genética , Doenças Cardiovasculares/genética , Leptina/genética , PPAR gama/genética , Leucócitos Mononucleares , PPAR alfa , Fenótipo , RNA MensageiroRESUMO
Immunotherapy by blocking immune checkpoint regulators has emerged as a new targeted therapy for some cancers. Among them V-domain Ig suppressor of Tcell activation (VISTA) which is identified as a novel checkpoint regulator in ovarian cancer. This study aimed to investigate the VISTA role in Epithelial ovarian cancer (EOC), and its relationship with tumor-infiltrating lymphocytes (TILs) markers and its prognostic value. The expression of VISTA, CD3, CD8, CD4, FOXP3, and CD56 was assessed in 168 EOC tissue microarrays (TMA) by immunohistochemistry (IHC). In addition, associations between VISTA, TILs, clinicopathological variables, and overall survival (OS) were analyzed. VISTA expression in IGRov1 cells, as well as in PBMC of EOC patient, was evaluated by western blot. VISTA expression was detected in 64,28% of tissues, among which 42.3% were positive for tumor cells (TCs), and 47,9% were positive for immune cells (ICs). In univariate analysis, VISTA expression was significantly associated with a high density of TILs:CD3+ (p = 0,001), CD4+ (p = 0,002) and CD8+ (p≤0,001), in ICs but not in TCs. In terms of OS, multivariate analysis showed a significant association between the high density of CD8+ TILs and VISTA positive staining in ICs (p = 0,044), but not in TCs (p = 0,108). Kaplan-Meier curves demonstrated no correlation between VISTA expression and prolonged OS in both ICs (p = 0,841) and TCs (p = 0,090). Classification of EOC tumor microenvironment based on VISTA and CD8+TILs expression, demonstrated four immune subtypes: VISTA+/CD8+, VISTA+/CD8-, VISTA-/CD8+ and VISTA-/CD8-. The dual positive VISTA+/CD8+ subtype was significantly associated with prolonged OS in both TCs and ICs (p = 0,012 and p≤0,01, respectively), whereas patients with VISTA+/CD8- had the worst OS. Our results showed that VISTA is highly expressed in the IGRov1 cell line and LT-CD8 from a patient with EOC. Our results highlighted the association of VISTA expression and CD8+ TILs in EOC, with prolonged OS in patients with VISTA+/CD8+ and proposed VISTA as a potential immunotherapeutic target in EOC.
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Leucócitos Mononucleares , Neoplasias Ovarianas , Humanos , Feminino , Carcinoma Epitelial do Ovário/metabolismo , Leucócitos Mononucleares/metabolismo , Prognóstico , Neoplasias Ovarianas/patologia , Linfócitos T CD8-Positivos , Linfócitos do Interstício Tumoral , Antígeno B7-H1/metabolismo , Microambiente TumoralRESUMO
Myxoid liposarcoma (MLPS) is the second most prevalent subtype of liposarcoma. It is usually found in the deep tissues of the lower limbs and rarely in gynecologic tract. Herein we present the second case in the English literature of a primary MLPS arising from the broad ligament which was thought to be a borderline ovarian tumor. The aim is to discuss its clinical and pathological characteristics. A 42-year-old woman presented with pelvic pain for the last 6 months. Magnetic resonance imaging was not specific. She underwent a surgical resection of the tumor mass, and pathological examination confirmed the diagnosis of MLPS deriving from the broad ligament. She received radiotherapy and the patient is doing well at 3 months follow-up. The clinical aspects, pathological diagnosis, prognosis, and therapy approach of broad ligament MLPS are all poorly understood. Complete surgical resection with or without radiotherapy is the mainstay of treatment in located MLPS.
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INTRODUCTION: Low-grade fibromyxoid sarcoma (LGFMS) is a tumor with a propensity for late recurrence which is rarely described in the vulva. CASE PRESENTATION: A 22-year-old woman presented with a growing right vulvar cystic mass that had been present for 2 months. She underwent surgical wide excision. The final pathologic diagnosis revealed LGFMS of the vulva and a right radical hemivulvectomy with negative margins was performed. RESULTS: The patient has not experienced a local or metastatic recurrence after 2-years follow- up. CONCLUSIONS: Despite being rare, LGFMS of the vulva should be taken into account when making a diagnosis of vulvar lesions. Definite diagnosis is based on pathological examination. MUC4 positivity is characteristically expressed. To prevent future recurrences, radical excision is necessary.
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INTRODUCTION: Pseudomyogenic hemangioendothelioma (PHE) is a rare vascular soft tissue tumor of intermediate malignancy. The aim of this study was to present a rare case of PHE in the back and to review its clinicopathological features, therapeutic modalities, evolutionary aspects and prognosis. CASE PRESENTATION: We report the case of a 21-year-old man who consulted for a multinodular mass at the scapula level, that increased in size within 2 months. An excisional surgery was performed. Macroscopic examination showed ulcerated centimetric nodules with a crusty surface. Microscopic examination showed a multinodular proliferation arranged in clusters, made of spindle cells or epithelioid cells with variable atypia. Immunohistochemical study showed the expression ofAE1-AE3, ERG and INI-1. There was no staining for EMA, CD34, and CD-31. The diagnosis of PHE was retained. DISCUSSION: PHE affects young adult males and usually develops in the extremities. Clinically, more than half of the patients present with local recurrence. Distant metastases have also been reported. Microscopically, PHE resembles a myoid tumor or epithelioid sarcoma because of the abundant eosinophilic cytoplasm and cell shape. Tumor cells express cytokeratin and inconsistently CD34 and CD31. Hence the need to complete the study of ERG and INI1 expression in all soft tissue epithelioid tumors. The translocation t(7;19)(q22; q13) as well as the expression of FOSB in immunohistochemistry allow to differentiate with epithelioid sarcoma. Surgery is the treatment option. CONCLUSION: PHE is a confusing entity with several mesenchymal neoplasms that must be carefully differentiated. Data regarding age, sex, location, course, and recurrence are important for proper diagnosis.
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Introduction: ovarian Mucinous Borderline Tumors (MBT) are characterized by an epithelial proliferation similar to those of well differentiated adenocarcinomas but are distinguished by the absence of stromal invasion. They are often difficult to diagnose histologically. The aim of the work was to specify the pathological and clinical features and to highlight the prognostic of these tumors. Methods: study was retrospective including 49 cases of primary ovarian MBT, diagnosed at the Patholgy Department of Salah Azaiez Institute from 1992 to 2019. Results: median age was 48 years old. Histologically, the cases were divided into 34 cases of pure MBT, 13 cases with intraepithelial carcinoma and 2 cases associating an intraepithelial carcinoma with microinvasion. The majority of our cases were classified FIGO I and only one case FIGO III. Sixteen patients received conservative treatment and 30 received radical treatment. The treatment wasn't specified in three patients. The prognosis was good in the majority of cases. Only one patient had a contralateral recurrence after a follow-up period of three years. There were no significant differences regarding the risk of recurrence and risk factors such as age, gestation, hormonal status, FIGO stage and conservative treatment. We raised this part. Conclusion: the prognosis of the ovarian MBT is good. However, it is necessary to multiply the samples to avoid missing a carcinomatous focus with an anarchic invasion of the stroma which constitutes a poor prognosis factor. It was changed by these sentences below: the diagnosis of MBT is not easy. Indeed, the distinction of MBT from carcinomas remains the greatest challenge for pathologists. Once this diagnosis is made with certainty, the tumor can be considered to have a good prognosis, especially stage I tumors which are the most common.
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Adenocarcinoma Mucinoso , Carcinoma in Situ , Neoplasias Ovarianas , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Adenocarcinoma Mucinoso/terapia , Feminino , Humanos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Prognóstico , Estudos RetrospectivosRESUMO
INTRODUCTION: Paratesticular rhabdomyosarcoma is a rare and aggressive mesenchymal tumor, accounting for only 7% of all rhabdomyosarcomas. It is mainly encountered in children and adolescents. The standard treatment consists of radical orchidectomy with negative surgical margins. However, chemotherapy is recommended to control retroperitoneal micrometastasis. The place of surgery for progressive retroperitoneal lymph node metastases remains controversial. We present a case of paratesticular rhabdomyosarcoma with progressive retroperitoneal lymph node metastases treated with surgery. CASE REPORT: We report a case of a 17-year-old North African male with no particular medical history who presented with a left scrotal mass that had been evolving for several months. Beta-human chorionic gonadotropin, alpha-fetoprotein, and lactate dehydrogenase were normal. Scrotal ultrasonography revealed the presence of a 6 cm heterogeneous hypoechogenic tissular mass with cystic areas adherent to the left scrotal wall, which was thickened in some places and vascularized by color Doppler. It exerted a mass effect on the homolateral testicle, which was of average volume. The thoracic-abdominal-pelvic computed tomography scan showed the presence of suspicious paraaortic lymph nodes. The most voluminous one measured 16 × 23 mm2. A left orchidectomy was performed. The final pathology report revealed an 8 cm paratesticular rhabdomyosarcoma of the embryonic type that displaced the testicle without invading it. Without going beyond it, it infiltrated the epididymis, the rete testis, and the albuginea. The surgical margin at the level of the spermatic cord was free. The patient had adjuvant chemotherapy (ifosfamide, vincristine, and dactinomycin). The patient had a challenging paraaortic lymph node dissection since the mass enlaced the left ureter and renal vessels. On histological examination, the paraaortic lymph nodes were metastatic. CONCLUSION: Rhabdomyosarcoma is an aggressive malignancy with high metastatic potential. Therefore, only an accurate diagnosis and early treatment can ensure better survival. Surgery in expert hands seems to be a good option for progressive retroperitoneal nodes. However, further studies are needed to determine the place of surgery in this setting.