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Journal of Obstetrics and Gynaecology :... Dec 2024Ovarian cancer stands as a highly aggressive malignancy. The core aim of this investigation is to uncover genes pivotal to the progression and prognosis of ovarian...
BACKGROUND
Ovarian cancer stands as a highly aggressive malignancy. The core aim of this investigation is to uncover genes pivotal to the progression and prognosis of ovarian cancer, while delving deep into the intricate mechanisms that govern their impact.
METHODS
The study entailed the retrieval of RNA-seq data and survival data from the XENA database. Outliers were meticulously excluded in accordance with TCGA guidelines and through principal components analysis. The R package 'deseq2' was harnessed to extract differentially expressed genes. WGCNA was employed to prioritise these genes, and Cox regression analysis and survival analysis based on disease-specific time were conducted to identify significant genes. Immunohistochemistry validation was undertaken to confirm the distinct expression of USP43. Furthermore, the influence of USP43 on the biological functions of ovarian cancer cells was explored using techniques such as RNA interference, western blotting, scratch assays, and matrigel invasion assays. The examination of immune infiltration was facilitated via CIBERSORT.
RESULTS
The study unearthed 5195 differentially expressed genes between ovarian cancer and normal tissue, comprising 3416 up-regulated and 1779 down-regulated genes. WGCNA pinpointed 204 genes most intimately tied to tumorigenesis. The previously undisclosed gene USP43 exhibited heightened expression in tumour tissues and exhibited associations with overall survival and disease-specific survival. USP43 emerged as a driver of cell migration (43.27 ± 3.91% vs 19.69 ± 1.94%) and invasion ability (314 ± 32 vs 131 ± 12) through the mechanism of epithelial mesenchymal transition, potentially mediated by the KRAS pathway. USP43 was also identified as a booster of CD4+ T memory resting cell infiltration, while concurrently reducing M1 macrophages within cancer, thereby fostering a milieu with relatively immune suppressive traits. Interestingly, USP43 demonstrated connections with epigenetically regulated-mRNAsi, although not with mRNAsi.
CONCLUSION
This study underscores the role of USP43 in facilitating tumour migration and invasion. It postulates USP43 as a novel therapeutic target for ovarian cancer treatment.
Topics: Female; Humans; Ovarian Neoplasms; Ubiquitin-Specific Proteases; Gene Expression Regulation, Neoplastic; Cystadenocarcinoma, Serous; Cell Line, Tumor; Prognosis; Cell Movement; Epithelial-Mesenchymal Transition; Survival Analysis; Clinical Relevance
PubMed: 38916982
DOI: 10.1080/01443615.2024.2361862 -
Cureus May 2024Epidermal inclusion cysts, commonly found cutaneously, rarely manifest in the pelvis. They are typically asymptomatic and often occur following trauma or surgical...
Epidermal inclusion cysts, commonly found cutaneously, rarely manifest in the pelvis. They are typically asymptomatic and often occur following trauma or surgical interventions. Imaging modalities, notably computed tomography (CT) scans and magnetic resonance imaging (MRI), play a crucial diagnostic role. Herein, we report a rare case of a four-year-old female with a complicated medical and surgical history, presented with pain in the right gluteal region in the setting of past history of abscess drainage in the same area. Imaging revealed a cystic lesion in the right pararectal space and a fistula extending between the pelvic cavity and gluteal region. A laparotomy was performed, and a histopathologic examination confirmed the diagnosis of an epidermal inclusion cyst with no evidence of malignancy.
PubMed: 38910756
DOI: 10.7759/cureus.60989 -
Cureus May 2024Primitive neuroectodermal tumors (PNETs) are unprecedented threatening neoplasms beginning from primitive neuroectodermal cells. PNETs are reported as the predominant...
Primitive neuroectodermal tumors (PNETs) are unprecedented threatening neoplasms beginning from primitive neuroectodermal cells. PNETs are reported as the predominant incidence observed in children and young adults with a high mortality rate. These neuroectodermal tumors are quite aggressive with a life expectancy of eight months on average. PNETs belong to the family of small round cell tumors majorly affecting bones and soft tissues in different body parts such as the brain, lungs, spine, and pelvic region. Computed tomography (CT) and magnetic resonance imaging (MRI) play a major role in giving the size, extent, and resectability of the tumors. A confirmed diagnosis is then made by histopathology and immunohistochemistry markers. This report depicts a case of PNET found within the right lung of a 13-year-old female, enumerating the clinical introduction, demonstrative handle, treatment modalities, and results. The case underscores the significance of precise conclusions and multidisciplinary approaches in pediatric PNET cases. Once the provisional diagnosis of pleuropulmonary blastoma or PNET was given on CT, a conformational histopathological examination was carried out. Histopathological analysis confirmed the final diagnosis of PNET, and the patient underwent neoadjuvant therapy as the tumor was non-resectable due to its massive size.
PubMed: 38910629
DOI: 10.7759/cureus.60820 -
Frontiers in Pediatrics 2024This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland...
This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-year-old patient, initially raised as female, presented to the clinic with complaints of "primary amenorrhea." Physical examination revealed the following: armpit hair (Tanner stage 2), breast development (Tanner stage 4 with bilateral breast nodule diameter of 7 cm), sparse pubic hair (Tanner stage 3), clitoris measuring 0.8 cm × 0.4 cm, separate urethral and vaginal openings, and absence of palpable masses in the bilateral groin or labia majora. The external genital virilization score was 0 points. Serum follicle-stimulating hormone level was 13.43 IU/L, serum luteinizing hormone level was 31.24 IU/L, and serum testosterone level was 14.95 nmol/L. Pelvic magnetic resonance imaging (MRI) did not reveal a uterus or bilateral fallopian tubes, but nodules on both sides of the pelvic wall indicated cryptorchidism. The karyotype was 46,XY. Genetic testing identified a maternal-derived hemizygous variation c.2359C > T (p.Arg787*) in the gene. During abdominal exploration, dysplastic testicles and a dysplastic uterus were discovered. Histopathological analysis revealed the presence of fallopian tube-like structures adjacent to the testicles. The CAIS patient documented in this study exhibited concurrent MDRs, thus expanding the spectrum of clinical manifestations of AIS. A review of prior literature suggests that the incidence of CAIS combined with histologically MDRs is not uncommon. Consequently, the identification of MDRs in AIS cases may represent an integral aspect of clinical diagnosis for this condition.
PubMed: 38895190
DOI: 10.3389/fped.2024.1400319 -
Journal of Clinical Medicine May 2024Total hip arthroplasty (THA) has revolutionized patients' lives with hip osteoarthritis. However, the increasing prevalence of THA in individuals with prior lumbar... (Review)
Review
Total hip arthroplasty (THA) has revolutionized patients' lives with hip osteoarthritis. However, the increasing prevalence of THA in individuals with prior lumbar arthrodesis (LA) poses unique challenges. This review delves into the biomechanical alterations, complications, and surgical strategies specific to this patient subset, highlighting the need for tailored preoperative assessments and planning. Due to altered pelvic and spinal biomechanics, patients with LA undergoing THA face a higher risk of dislocation and revision. The complex interplay between spinal and hip biomechanics underscores the need for meticulous preoperative planning. Comprehensive clinical examination and radiographic evaluation are vital for understanding patient-specific challenges. Various radiographic techniques, including computed tomography (CT)/X-ray matching and standing/seated studies, provide insights into postural changes affecting pelvic and spinal alignment. Complications following THA in patients with LA highlight the necessity for personalized surgical strategies. Careful consideration of implant selection, the surgical approach, and component positioning are essential to prevent complications. In summary, THA in patients with prior LA demands individualized preoperative assessments and planning. This approach is crucial to optimize outcomes and mitigate the heightened risks of complications, underlining the importance of tailored surgical strategies.
PubMed: 38892866
DOI: 10.3390/jcm13113156 -
Cureus May 2024Chondrosarcomas are malignant cartilaginous tumors that usually affect the pelvic bone and long bones. Primary chondrosarcomas of the skull are rare, with the cranial...
Chondrosarcomas are malignant cartilaginous tumors that usually affect the pelvic bone and long bones. Primary chondrosarcomas of the skull are rare, with the cranial vault being an even more unusual localization. We report a case of a 75-year-old man presenting with headaches and outgrowth of the parietal scalp. CT scan of the head showed an extracranial cystic well-rounded mass originating at the parietal suture and eroding through the adjacent parietal bone. The patient underwent an en bloc surgical resection of the mass, and histological examination confirmed a grade I chondrosarcoma.
PubMed: 38883079
DOI: 10.7759/cureus.60398 -
Cureus May 2024Multimodality treatments, including chemotherapy, radiation, and surgery, have been evaluated to reduce the extent of resection and morbidity in patients with advanced...
Multimodality treatments, including chemotherapy, radiation, and surgery, have been evaluated to reduce the extent of resection and morbidity in patients with advanced vulvar cancer. Here, we report the case of a 55-year-old woman diagnosed with advanced vulvar cancer with inguinal and pelvic lymph node metastasis. She exhibited cancerous labia, which were entirely covered with ulcerated and exophytic lesions of squamous cell carcinoma, and underwent systemic chemotherapy consisting of combined paclitaxel-cisplatin. After eight cycles of this regimen, the tumors had nearly regressed, and we performed a wide local vulvectomy with a plastic musculocutaneous flap. Pathological examination revealed no residual carcinoma in the excised labia, indicating that the chemotherapy elicited a pathological complete response. The paclitaxel-cisplatin regimen may provide sufficient efficacy for selected patients with stage IVB vulvar cancer. In addition, surgical strategies should be tailored to avoid complications associated with extensive surgery and more emphasis should be placed on the patient's expected quality of life.
PubMed: 38882968
DOI: 10.7759/cureus.60432 -
Case Reports in Urology 2024A 65-year-old man was diagnosed with bladder cancer invading the prostate and penis and multiple bone metastases. He underwent palliative radiation (30 Gy/10 fr)...
Bladder Cancer Invading the Prostate and Penis and Multiple Bone Metastases Showing Significant Improvement after a Short-Term Pembrolizumab Therapy following Radiation and Gemcitabine and Cisplatin Therapy Leading to a Pathologically Complete Remission.
A 65-year-old man was diagnosed with bladder cancer invading the prostate and penis and multiple bone metastases. He underwent palliative radiation (30 Gy/10 fr) through vertebral bones (Th3 and Th12-L5) and pelvic bones for pain control. The patient received pembrolizumab therapy after three courses of gemcitabine and cisplatin therapy. CT four weeks after starting pembrolizumab therapy showed that both the primary and metastatic lesions had notably reduced in size, and no new lesion was detected. He subsequently fell, resulting in a femoral neck pathological fracture, and underwent hemiarthroplasty. Pathological examination of the pathological fracture site revealed no residual tumor tissue.
PubMed: 38882557
DOI: 10.1155/2024/7525757 -
Oncology Letters Aug 2024Gastric-type endocervical adenocarcinoma (GEA) is an uncommon and highly aggressive malignancy, characterized by non-specific clinical manifestations. The limited number...
Gastric-type endocervical adenocarcinoma (GEA) is an uncommon and highly aggressive malignancy, characterized by non-specific clinical manifestations. The limited number of documented cases poses significant challenges in achieving an early preoperative diagnosis. In the present study, two cases of GEA in female patients, aged 46 and 39 years, who presented with the chief complaint of profuse vaginal discharge are described. Both patients underwent a total hysterectomy and bilateral adnexectomy, leading to the definitive diagnosis of GEA through routine pathological and immunohistochemical examination. Following surgery, case one received conventional chemotherapy with paclitaxel and carboplatin, demonstrating no evidence of recurrence during a follow-up period of >2 years. At present, patient B has been followed up for >1 year without any signs of disease recurrence. Given the rarity and diagnostic challenges associated with GEA, further investigations into its pathogenesis and diagnostic modalities are warranted. Additionally, due to its poor prognosis, close surveillance is essential for monitoring potential recurrences. Reporting such cases is crucial in aiding clinicians to make accurate diagnoses and treatment decisions.
PubMed: 38872865
DOI: 10.3892/ol.2024.14477 -
DEN Open Apr 2025Despite endometriosis being a relatively common chronic gynecological condition in women of childbearing age, small bowel endometriosis is rare. Presentations can vary...
Despite endometriosis being a relatively common chronic gynecological condition in women of childbearing age, small bowel endometriosis is rare. Presentations can vary from completely asymptomatic to reported symptoms of abdominal pain, bloating, and diarrhea. The following two cases depict very atypical manifestations of ileal endometriosis that presented as obscure intermittent gastrointestinal bleeding and bowel obstruction requiring surgical intervention. The first case describes a previously healthy 40-year-old woman with severe symptomatic iron deficiency anemia and intermittent melena. A small bowel enteroscopy diagnosed multiple ulcerated strictures in the distal small bowel as the likely culprit. Despite nonsteroidal anti-inflammatory drug-induced enteropathy being initially considered as the likely etiology, histopathological examination of the resected distal ileal segment revealed evidence of endometriosis. The second case describes a 66-year-old with a presumptive diagnosis of Crohn's disease who reported a 10-year history of intermittent perimenstrual abdominal pain, diarrhea, and nausea with vomiting. Following two subsequent episodes of acute bowel obstruction and surgical resection of the patient's stricturing terminal ileal disease, histopathological examination demonstrated active chronic inflammation with endometriosis. Small bowel endometriosis should be considered as an unusual differential diagnosis in women who may present with obscure gastrointestinal bleeding from the small bowel or recurrent bowel obstruction.
PubMed: 38868705
DOI: 10.1002/deo2.395