Benign Tumors Research Articles

Is the identification of multiple infantile cutaneous haemangiomas always a definitive diagnosis? A case report of an infant with multifocal hepatic haemangioma

Multifocal hepatic haemangiomas are the most common benign vascular tumours of the liver that are detected in children with concomitant multiple infantile haemangiomas. Reported lesions are usually undetectable at birth, which presents a diagnostic problem for general practitioners. Ultrasound should be the imaging examination performed in the first instance in search for vascular anomalies in children. In pharmacotherapy, the first-choice treatment is propranolol, administered orally. In the described case, a boy with multiple hepatic and skin haemangiomas, after treatment with propranolol, achieved a significant improvement in the ultrasound image of the liver. Skin lesions were also reduced. The importance of the physical examination should be emphasised in the context of detecting cutaneous haemangiomas, which usually accompany multifocal hepatic haemangiomas and should prompt the physician to regularly observe and repeat abdominal ultrasound examinations of the diagnosed and/or treated child.

Superiority of Robotic Over Laparoscopic Spleen-Preserving Distal Pancreatectomy With Warshaw Procedure for Reducing the Incidence of Postoperative Splenic Infarction.

Minimally invasive spleen-preserving distal pancreatectomy with Warshaw procedure (MI-WP), has gained widespread recognition for the treatment of benign and low-grade malignant tumors of the pancreatic body and tail. However, the comparative advantages of the robotic Warshaw procedure (R-WP) over the laparoscopic Warshaw procedure (L-WP) remain uncertain. This study aimed to compare the surgical outcomes between R-WP and L-WP. Among the 146 cases of MI-DP conducted between October 2020 and December 2023 (L-DP:115, R-DP:31), 33 cases of MI-WP were subjected to analysis, comprising the R-WP group (n=10) and the L-WP group (n=23). R-WP successfully completed all procedures under a purely laparoscopic approach, whereas L-WP necessitated conversion to open surgery in 2 cases (8.7%). Despite the significantly prolonged operative time in R-WP compared with L-WP (R-WP vs. L-WP: 421vs. 300 min), there was no significant difference in estimated blood loss between the 2 groups (R-WP vs. L-WP: 19 vs. 20mL). Although the rate of major complications did not significantly differ between the 2 groups, 2 cases (8.7%) of L-WP required reoperation, including splenectomy in 1 instance. Furthermore, the incidence of postoperative splenic infarction was significantly higher in L-WP than in R-WP (R- vs. L-WP:0 vs. 43.5%, P=0.015). The length of hospital stay after surgery did not exhibit a significant difference between the 2 groups (R-WP vs. L-WP: 11 vs. 12d). R-WP demonstrated superiority to L-WP for reducing the incidence of postoperative splenic infarction, potentially contributing to enhancing the spleen preservation rate.

Comparative study of cemento-ossifying fibroma and focal cemento-osseous dysplasia in the jaw – 15 year retrospective inquiry and literature review

BackgroundCemento-ossifying fibroma (COF) and focal cemento-osseous dysplasia (FCOD) are benign neoplasms occurring in the mandible and maxilla; histologically, they both show normal bone replacement by a fibrous stroma containing variable amounts of calcified fragments resembling bone and cementum. FCOD is relatively common and requires observation; COF is rare and its growth over time can lead to deformity in the head and neck region. Surgical removal of COF at an early stage is critical to prevent recurrence and deformity. Therefore, distinguishing COF from FCOD is important for proper further management. Methods and MaterialsTo determine the parameters differentiating COF from FCOD, we retrospectively analyzed 15 COF cases and 27 FCOD cases reviewed between 2005 and 2020 at Temple University Hospital. Demographic, radiographic and histopathologic characteristics were compared by using Student’s t test for continuous variables and Chi-square test for categorical variables. ResultsIn the non-histopathologic spectrum, COF occurred at a younger age (average age-31yo versus FCOD 43 yo). FCOD showed female predilection compared with COF. No significant difference was observed regarding location and radiographic density. However, COF was significantly associated with radiographic cortical expansion. In the histopathologic spectrum, FCOD was more frequently associated with significant intralesional hemorrhage, increased vascularity, osteoblastic rimming of trabeculae, and ginger roots –like bone trabeculae. DiscussionWe demonstrated 7 clinical, radiographic, and pathologic parameters that can help differentiate COF from FCOD. Comprehensive assessment of the distinguishing characteristics is valuable for accurate diagnosis and treatment of these two entities, aiding in minimizing unnecessary procedures for FCOD and averting facial deformities caused by COF.

Head and neck tumors detected in dogs and cats between 2011 and 2021: A retrospective study

The aim of this study is to determine and compare the distribution, localization, breed, age and gender incidences of head and neck region tumors by years, by evaluating the results of dog-cat biopsies and/or operation material brought to Ankara University, Faculty of Veterinary Medicine, Department of Pathology between the years 2011 and 2021. In the study, 244 (15.9%) of 1533 tumors diagnosed in dogs and cats between 2011 and 2021 belonged to the head and neck region, of which 159 were in dogs and 85 in cats. Dogs with tumors were generally more than 6 years old (n=108) and cats were mostly 1 year old and older (n=75). In the head and neck region tumors observed in dogs, malignant and benign tumors of epithelial origin were most common (n=81; 50.9%), with sebaceous tumors (n=22) being the most common, and mostly observed around the eyes (n=26), while malignant and benign tumors of mesenchymal origin were most commonly found in the mouth region. Among the tumors of this region, epithelial tumors were mostly encountered in cats (n=39, 45.8%), and 51.2% of the epithelial tumors were squamous cell cancer (n=20), with epithelial tumors being the most common in the mouth (n=12) and nose (n=9). As a result, epithelial malignant and benign tumors were mostly seen in the eyes, and mesenchymal malignant and benign tumors were detected in the mouth. Among tumor types, papilloma in benign tumors and squamous cell carcinoma in malignant tumors were noted.

Pilomatrixoma of the Periorbital Region: A Retrospective Review.

Pilomatrixoma is a benign cutaneous adnexal tumor that differentiates toward hair follicle cells. It infrequently occurs in the periorbital region. In the periorbital area, it is often located in the upper eyelid and eyebrow region. Periorbital pilomatrixoma is often misdiagnosed clinically and is less common than other benign skin tumors. In this retrospective review, we evaluate the demographic, clinical, and histopathological data of patients with periorbital pilomatrixoma, treated from 2010 to 2023. A retrospective analysis of periorbital pilomatrixoma cases treated during a period of 13 years was performed. Deidentified data in relation to the age at surgical excision, gender, location, size, histopathological features, treatment, and recurrence were collected. All histological slides were reviewed by an attending histopathologist. A total of 77 cases of periorbital pilomatrixoma were diagnosed by histopathological examination and treated from 2010 to 2023. A slight female preponderance (56%) was noted, and the majority of cases (52%) were presented in the first 2 decades of life. The left periorbital region was involved in 45.5% of cases, and 54.5% in the right. The upper lid was the most affected site. Two cases of recurrence were reported. No malignant transformation was noted. Pilomatrixoma is an uncommon benign periorbital tumor, commonly misdiagnosed clinically. Ophthalmologists and surgeons should suspect pilomatrixoma in the periorbital region, especially in children or young adults. Complete surgical excision is curative, and recurrence is rare.

MiRNAs: possible regulators of toll like receptors and inflammatory tumor microenvironment in colorectal cancer

BackgroundColorectal cancer (CRC) is ranked as the third most commonly diagnosed cancer and the third cause of cancer related deaths. CRC is greatly attributed to genetic and epigenetic mutations and immune dysregulation. Tumor aberrant expression of Toll-like Receptors (TLRs) can contribute to tumorigenesis. Recent studies suggested that microRNAs act as direct ligands of TLRs altering their expression and signaling pathways.AimTo prove our concept that specific miRNA mimics may act as antagonists of their specific toll like receptors inhibiting their expression that could limit the release of pro-inflammatory and pro-tumorigenic cytokines leading to apoptosis of tumor cells.MethodsFrom public microarray databases, we retrieved TLRs and miRNAs related to CRC followed by in silico docking of the selected miRNA ligands into the TLRs. Clinical validation after co-immunoprecipitation of TLRs and their interacting miRNA ligands was done. Expression of TLRs 1, 7,8 was determined by ELISA while miRNAs was measured by RT-qPCR. In addition, microRNA mimics of the down regulated miRNAs were transfected into human CRC cell lines.ResultsOur data demonstrate that TLRs 1, 7, 8 are up regulated in CRC compared to controls. Further, three miRNAs (-122, -29b and -15b) are relatively downregulated, while 4 miRNAs (-202, miRNA-98, -21 and -let7i) are upregulated in CRC patients compared to those with benign tumor and healthy controls. Transfection of down regulated miRNA mimics into CRC cell lines resulted in a significant reduction of the number and viability of cells as well as down regulating the expression of TLRs 1, 7 and 8 with ultimate reduction of downstream effector IL6 protein, suggesting that these miRNAs are negative regulators of carcinogenesis.ConclusionMicroRNAs could act as antagonistic ligands of TLRs limiting the inflammatory tumor microenvironment.

Guía mexicana para el diagnóstico y el tratamiento del hemangioma infantil.

Infantile hemangioma is a benign vascular tumor, the most common in childhood, whose natural evolution is the disappearance of the lesion in the pediatric age and which has effective and safe treatments that limit its growth and favor its disappearance at younger ages. Infantile hemangioma continues to be a reason for attention to complications, due to erroneous diagnoses, lack of knowledge of the condition, late referral or fear of the effects of the medications used for its treatment. Furthermore, its presence is normalized without taking into account that it can cause uncertainty, anxiety, feelings of guilt and, as a consequence, a significant impact on the quality of life, mainly in the parents or caregivers of the child. The need for a clinical practice guideline in our country arises from the high presentation of late-remitted complications in infantile hemangioma even with the availability of adequate treatments, the continuous evolution of medicine and the appearance of new evidence. Throughout the guide you will find recommendations regarding the diagnosis, treatment and follow-up of patients with infantile hemangioma, taking into account the paraclinical tests that can be performed, topical or systemic management options, as well as adjuvant therapies. For the first time, objective tools for patient follow-up are included in a guide for the management of infantile hemangioma, as well as to help the first contact doctor in timely referral.

Renal bleeding: imaging and interventions in patients with tumors.

In patients with cancer, spontaneous renal bleeding can stem from a range of underlying factors, necessitating precise diagnostic tools for effective patient management. Benign and malignant renal tumors are among the primary culprits, with angiomyolipomas and renal cell carcinomas being the most common among them. Vascular anomalies, infections, ureteral obstructions, and coagulation disorders can also contribute to renal-related bleeding. Cross-sectional imaging techniques, particularly ultrasound and computed tomography (CT), play pivotal roles in the initial detection of renal bleeding. Magnetic resonance imaging and CT are preferred for follow-up evaluations and aid in detecting underlying enhancing masses. IV contrast-enhanced ultrasound can provide additional information for active bleeding detection and differentiation. This review article explores specific disorders associated with or resembling spontaneous acute renal bleeding in patients with renal tumors; it focuses on the significance of advanced imaging techniques in accurately identifying and characterizing renal bleeding in these individuals. It also provides insights into the clinical presentations, imaging findings, and treatment options for various causes of renal bleeding, aiming to enhance the understanding, diagnosis, and management of the issue.

Nomogram development for predicting ovarian tumor malignancy using inflammatory biomarker and CA-125

Global challenges in ovarian cancer underscore the need for cost-effective screening. This study aims to assess the role of pretreatment Neutrophil-to-Lymphocyte Ratio (NLR), Lymphocyte-to-Monocyte-Ratio (LMR), Platelet-to-Lymphocyte Ratio (PLR), and CA-125 in distinguishing benign and malignant ovarian tumors, while also constructing nomogram models for distinguish benign and malignant ovarian tumor using inflammatory biomarkers and CA-125. This is a retrospective study of 206 ovarian tumor patients. We conducted bivariate analysis to compare mean values of CA-125, LMR, NLR, and PLR with histopathology results. Multiple regression logistic analysis was then employed to establish predictive models for malignancy. NLR, PLR, and CA-125 exhibited statistically higher levels in malignant ovarian tumors compared to benign ones (5.56 ± 4.8 vs. 2.9 ± 2.58, 278.12 ± 165.2 vs. 180.64 ± 89.95, 537.2 ± 1621.47 vs. 110.08 ± 393.05, respectively), while lower LMR was associated with malignant tumors compared to benign (3.2 ± 1.6 vs. 4.24 ± 1.78, p = 0.0001). Multiple logistic regression analysis revealed that both PLR and CA125 emerged as independent risk factors for malignancy in ovarian tumors (P(z) 0.03 and 0.01, respectively). Utilizing the outcomes of multiple regression logistic analysis, a nomogram was constructed to enhance malignancy prediction in ovarian tumors. In conclusion, our study emphasizes the significance of NLR, PLR, CA-125, and LMR in diagnosing ovarian tumors. PLR and CA-125 emerged as independent risk factors for distinguishing between benign and malignant tumors. The nomogram model offers a practical way to enhance diagnostic precision.

Developing a deep learning model for predicting ovarian cancer in Ovarian-Adnexal Reporting and Data System Ultrasound (O-RADS US) Category 4 lesions: A multicenter study

PurposeTo develop a deep learning (DL) model for differentiating between benign and malignant ovarian tumors of Ovarian-Adnexal Reporting and Data System Ultrasound (O-RADS US) Category 4 lesions, and validate its diagnostic performance.MethodsA retrospective analysis of 1619 US images obtained from three centers from December 2014 to March 2023. DeepLabV3 and YOLOv8 were jointly used to segment, classify, and detect ovarian tumors. Precision and recall and area under the receiver operating characteristic curve (AUC) were employed to assess the model performance.ResultsA total of 519 patients (including 269 benign and 250 malignant masses) were enrolled in the study. The number of women included in the training, validation, and test cohorts was 426, 46, and 47, respectively. The detection models exhibited an average precision of 98.68% (95% CI: 0.95–0.99) for benign masses and 96.23% (95% CI: 0.92–0.98) for malignant masses. Moreover, in the training set, the AUC was 0.96 (95% CI: 0.94–0.97), whereas in the validation set, the AUC was 0.93(95% CI: 0.89–0.94) and 0.95 (95% CI: 0.91–0.96) in the test set. The sensitivity, specificity, accuracy, positive predictive value, and negative predictive values for the training set were 0.943,0.957,0.951,0.966, and 0.936, respectively, whereas those for the validation set were 0.905,0.935, 0.935,0.919, and 0.931, respectively. In addition, the sensitivity, specificity, accuracy, positive predictive value, and negative predictive value for the test set were 0.925, 0.955, 0.941, 0.956, and 0.927, respectively.ConclusionThe constructed DL model exhibited high diagnostic performance in distinguishing benign and malignant ovarian tumors in O-RADS US category 4 lesions.

Schwannoma (Neurilemmoma). Ectopic Position in Maxillary Sinus

A Schwannoma (Neurilemmoma) is a benign nerve tumor arising from a myelinated nerve fibers sheath, that can appear in any part of the body. Forty-five percent of the cases occur in the head and neck region. Intraoral Schwannomas are rather uncommon, intranasal and intrasinus Schwannomas are even rarer (less than 1%). The clinical case reports a young, man 14-years-old male with a Neurilemmoma the left maxillary sinus, involving the left third molar. The reports include case information, radiological findings, the surgery treatment, the histological characteristics of this particular tumor, a differential diagnosis, the post-operation process, and a review of the available literature.

The Clinical Significance of CRNDE Gene Methylation, Polymorphisms, and CRNDEP Micropeptide Expression in Ovarian Tumors.

CRNDE is an oncogene expressed as a long non-coding RNA. However, our team previously reported that the CRNDE gene also encodes a micropeptide, CRNDEP. The amino acid sequence of CRNDEP has recently been revealed by other researchers, too. This study aimed to investigate genetic alterations within the CRNDEP-coding region of the CRNDE gene, methylation profiling of this gene, and CRNDEP expression analysis. All investigations were performed on clinical material from patients with ovarian tumors of diverse aggressiveness. We found that CRNDEP levels were significantly elevated in highly aggressive tumors compared to benign neoplasms. Consistently, a high level of this micropeptide was a negative, independent, prognostic, and predictive factor in high-grade ovarian cancer (hgOvCa) patients. The cancer-promoting role of CRNDE(P), shown in our recent study, was also supported by genetic and epigenetic results obtained herein, revealing no CRNDEP-disrupting mutations in any clinical sample. Moreover, in borderline ovarian tumors (BOTS), but not in ovarian cancers, the presence of a single nucleotide polymorphism in CRNDE, rs115515594, significantly increased the risk of recurrence. Consistently, in BOTS only, the same genetic variant was highly overrepresented compared to healthy individuals. We also discovered that hypomethylation of CRNDE is associated with increased aggressiveness of ovarian tumors. Accordingly, hypomethylation of this gene's promoter/first exon correlated with hgOvCa resistance to chemotherapy, but only in specimens with accumulation of the TP53 tumor suppressor protein. Taken together, these results contribute to a better understanding of the role of CRNDE(P) in tumorigenesis and potentially may lead to improvements in screening, diagnosis, and treatment of ovarian neoplasms.

Dermotoscope assisted diagnosis of adolescent bullous pilomatricoma: six case reports

BackgroundPilomatricoma (PM) is a cutaneous benign neoplasm derived from the hair matrix. It clinically presents as a solitary and firm nodule overlying normal epidermis and is usually not easy to be noticed at early stage. Nevertheless, when special bullous lesion occurs in a short time or even ulcerates, preoperative diagnosis by a dermatologist is often challenging especially when the pediatric patients refuse biopsy.Case presentationWe present six bullous PM cases and particularly conduct correlation analysis on the dermotoscopy and histopathology detection data. The basic information, medical history, symptoms and lesion morphology results of the patients were also provided. We found that the incidence of bullous PM was higher in females than in males, and most patients were adolescents and the predilection location seem to be consistent in the vaccine injection site. The dermatoscopic features of bullous PM reported were luminous yellow structure below, with gray-blue homogeneous areas and branched capillary. The histological features were consistent with PM, and evident epidermis bullae were above the tumor with extraordinary dilation of lymphangion in the upper dermis. The patients described in this study were Chinese patients in Han population included 4 females and 2 males, coincidentally, they are almost teen-age, respectively are 5,11,17,19,21,22 year-old.ConclusionsThis study reported and analyzed the dermotoscopy and clinical characteristics of bullous PM, dermotoscopy may guide as a rapid and reliable technique in bullous PM diagnosis.

Analysis of Diagnostic Efficacy of the International Ovarian Tumor Analysis ADNEX Model and the ACR O-RADS US (Ovarian-Adnexal Reporting and Data System) for Benign and Malignant Ovarian Tumors: A Retrospective Study in a Tumor Center in Northeast China.

This study is to analyze and compare the diagnostic efficacy of the ADNEX model and O-RADS in Northeast China for benign and malignant ovarian-adnexal tumors. From July 2020 to February 2022, ultrasound images of 312 ovarian-adnexal masses included in the study were analyzed retrospectively, and the properties of these masses were identified using the ADNEX model and O-RADS. The diagnostic efficiency of the ADNEX model and O-RADS was analyzed using a ROC curve, and the capacities of the two models in differentiating benign and malignant ovarian masses at the optimum cutoff value were compared, as well as the consistency of their diagnosis results was evaluated. The study included 312 ovarian-adnexal masses, including 145 malignant masses and 167 benign masses from 287 patients with an average age of (46.8 ± 11.3) years. The AUC of the ADNEX model was 0.974, and the optimum cutoff value was the risk value > 24.2%, with the corresponding sensitivity and specificity being 97.93 and 86.83, respectively. The AUC of the O-RADS was 0.956, and the optimum cutoff value was > O-RADS 3, with the corresponding sensitivity and specificity being 97.24 and 85.03, respectively. The AUCs of the two models were 0.924 and 0.911 at the optimum cutoff values, with no statistical differences between them (P = 0.284). Consistency analysis: the kappa values of the two models for the determination and pathological results of masses were 0.840 and 0.815, respectively, and that for the diagnostic outcomes was 0.910. Both the ADNEX model and O-RADS had good diagnostic performance in people from Northeast China. Their diagnostic capabilities were similar, and diagnostic results were highly consistent at the optimum cutoff values.

Serum and Urine Metabolic Fingerprints Characterize Renal Cell Carcinoma for Classification, Early Diagnosis, and Prognosis.

Renal cell carcinoma (RCC) is a substantial pathology of the urinary system with a growing prevalence rate. However, current clinical methods have limitations for managing RCC due to the heterogeneity manifestations of the disease. Metabolic analyses are regarded as a preferred noninvasive approach in clinics, which can substantially benefit the characterization of RCC. This study constructs a nanoparticle-enhanced laser desorption ionization mass spectrometry (NELDI MS) to analyze metabolic fingerprints of renal tumors (n=456) and healthy controls (n=200). The classification models yielded the areas under curves (AUC) of 0.938 (95% confidence interval (CI), 0.884-0.967) for distinguishing renal tumors from healthy controls, 0.850 for differentiating malignant from benign tumors (95% CI, 0.821-0.915), and 0.925-0.932 for classifying subtypes of RCC (95% CI, 0.821-0.915). For the early stage of RCC subtypes, the averaged diagnostic sensitivity of 90.5% and specificity of 91.3% in the test set is achieved. Metabolic biomarkers are identified as the potential indicator for subtype diagnosis (p<0.05). To validate the prognostic performance, a predictive model for RCC participants and achieve the prediction of disease (p=0.003) is constructed. The study provides a promising prospect for applying metabolic analytical tools for RCC characterization.

Postoperative hemorrhages in vestibular schwannoma surgery pontine hemorrhage. Clinical case report

Vestibular schwannoma (acoustic neuroma) is a benign tumor that develops from Schwann cells and can be life-threatening. Nowadays, surgical treatment is the method of choice in the management of patients with this type of tumor. We present a clinical case report of 71 y.o. patient with vestibular schwannoma (Koos grade IV, Samii grade 4B) with severe compression of the pons and the left cerebellar hemisphere. Microsurgical removal of the tumor was performed via the retrosigmoid approach. Starting from postoperative day 1, signs of respiratory distress developed. Control multislice spiral computed tomography (MSCT) of the brain revealed the area of hemorrhage in the left regions of the pons. On postoperative day 24 the patient's condition rapidly worsened progressing to coma with pronounced arterial hypotonia and cardiac arrest. Hemorrhage in the brain stem structures is a rare and life-threatening postoperative complication in vestibular schwannoma surgery. The incidence of postoperative hemorrhage is 2–11% of cases. Vascular complications are the leading cause of mortality. The key predisposing factors are older age, large and giant size of the tumor, tumor invasion into the pia mater of the brainstem, and vascularization of the tumor stroma. Comprehensive assessment of the tumor blood supply status, the state of the brainstem, intra- and postoperative clinical and neurophysiological monitoring, careful and thorough dissection of the tumor capsule and strict control of blood pressure in the postoperative period are the basis for the prevention of these complications.

Clinicopathological concordance of mucocutaneous manifestations in people living with HIV: A cross-sectional study.

To describe the frequency and clinicopathological concordance of mucocutaneous manifestations in people living with HIV (PLWH) and its correlation with CD4+ T lymphocyte count and HIV viral load. Cross-sectional study of patients diagnosed with HIV infection who underwent skin biopsy for histopathological study from 1992 to 2022. Skin diseases were categorized as opportunistic and sexually transmitted infections, inflammatory dermatoses, benign cutaneous neoplasms, and premalignant and malignant cutaneous neoplasms. Clinicopathological concordance was classified as complete, partial or discordant. Frequency of skin diseases are presented by category and according to lymphocyte CD4+ count and HIV viral load. A total of 659 patients were included of whom 88.5% (n = 583) were male. The most frequent diagnostic category was opportunistic or sexually transmitted infections in 34% (n = 224) and the most frequently found condition was Kaposi sarcoma in 17% (n = 112). Clinicopathological concordance was complete in 53.7% (n = 354) of cases, partial in 26.7% (n = 176) and discordant in 19.6% (n = 129). Among the 282 patients with available serological data, 58.9% (n = 166), 23.8% (n = 67) and 17.4% (n = 49) had CD4+ counts below 200, between 200 and 499, and above 500 cells/μl, respectively. Although there is a high variability in skin conditions which people with HIV may present, there was a high rate of clinicopathological concordance (80.4%). We emphasize the importance of diagnostic skin biopsies due to their diverse morphological presentation. The frequency of skin diseases in PLWH depending on different clinical settings should aid the clinician in reaching an adequate diagnosis in this population.

LCP1 correlates with immune infiltration: a prognostic marker for triple-negative breast cancer

ObjectiveTriple-Negative Breast Cancer (TNBC) is known for its aggressiveness and treatment challenges due to the absence of ER, PR, and HER2 receptors. Our work emphasizes the prognostic value of LCP1 (Lymphocyte cytosolic protein 1), which plays a crucial role in cell processes and immune cell activity, to predict outcomes and guide treatments in TNBC.MethodsWe explored LCP1 as a potential biomarker in TNBC and investigated the mRNA and protein expression levels of LCP1. We investigated different databases, including GTEX, TCGA, GEO, cBioPortal and Kaplan-Meier Plotter. Immunohistochemistry on TNBC and benign tumor samples was performed to examine LCP1's relationship with patient clinical characteristics and macrophage markers. We also assessed survival rates, immune cell infiltration, and drug sensitivity related to LCP1 using various bioinformatics tools.ResultsThe results indicated that LCP1 expression was higher in TNBC tissues compared to adjacent normal tissues. However, high expression of LCP1 was significantly associated with favorable survival outcomes in patients with TNBC. Enrichment analysis revealed that genes co-expressed with LCP1 were significantly enriched in various immune processes. LCP1 showed a positive correlation with the infiltration of resting dendritic cells, M1 macrophages, and memory CD4 T cells, and a negative correlation with M2 macrophages. Further analysis suggested a link between high levels of LCP1 and increased survival outcomes in cancer patients receiving immunotherapy.ConclusionLCP1 may serve as a potential diagnostic and prognostic biomarker for TNBC, which was closely associated with immune cell infiltration, particularly M1 and M2 macrophages. Our findings may provide valuable insights into immunotherapeutic strategies for TNBC patients.

A rare case of a vascular benign tumor in oral cavity – Case report

Leiomyomas are benign tumors arising from smooth muscle and can be classified as solid, epithelioid, and vascular leiomyoma (angioleiomyoma). Angioleiomyoma frequently occurs on the skin. Due to the lack of smooth muscle in the oral cavity, this tumor is rarely located in the mouth. This study aims to present a rare case of a 36-year-old woman with a painless submucosal nodule in the left cheek mucosa, measuring approximately 2 cm x 1 cm, with 5-years of evolution. Morphological and histochemical examination evidenced the proliferation of smooth muscle around the blood vessels of various calibers. The diagnosis of angioleiomyoma was confirmed, the tumor was surgically removed, and the patient had no further complications after 9-months of follow-up. The diagnosis of oral angioleiomyoma is challenging since this tumor is rare and can mimic or transform into malignancy. For this reason, histological examination in association with immunohistochemical is invaluable to establishing an accurate diagnosis and delivering suitable treatment.

Kidney involvement in rare hereditary diseases

Various rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors. Genetic nephropathy should be always considered in children, adolescents and young patients with the kidneys or urinary tract disorders and/or patients with positive family anamnesis. Extrarenal manifestations can be a valuable clue for diagnosis of certain hereditary diseases, e.g. neurosensory deafness in Alport syndrome or photofobia in nephropathic cystinosis. Diagnosis of monogenic inherited diseases should be verified by genetic testing. Specific drugs are available for treatment of certain hereditary diseases involving kidney, e.g. Fabry disease, cystinosis, primary hyperoxaluria I type and atypical hemolytic uremic syndrome.