Search Results (93)

Clostridium sordellii, which has recently been reclassified as Paeniclostridium sordellii and subsequently as Paraclostridium sordellii, is a rare human pathogen linked to infections of high morbidity and mortality, often presenting as fulminant toxic shock syndrome. Although most documented cases involve individuals with pre-existing health issues, such as immunosuppression and cancer, or those who have undergone specific gynecological procedures, there are few instances reported in otherwise healthy individuals. In this report, we present a case of fatality associated with P. sordellii infection in a young individual with a history of drug abuse, following post-mortem examinations. Additionally, we provide an updated review of the latest literature on this topic. Full article

Background: Primary vaginal cancer is a rare gynecological condition. We present a case of complete utero-vaginal prolapse complicated by primary invasive vaginal carcinoma. To our knowledge, only a few similar cases have been reported in our region. Case Report: A 77-year-old woman, gravida two and para two, was admitted for treatment of pelvic organ prolapse. The patient reported an eight-year history of uterine bulging but had not used a pessary. The gynecological examination revealed a complete manually irreducible utero-vaginal prolapse with an ulcerative lesion on the right posterolateral vaginal wall. The histological examination diagnosed an HPV-independent keratinizing squamous cell carcinoma, grade I. Comprehensive imaging showed no evidence of metastasis. The patient underwent radical hysterectomy, bilateral adnexectomy, complete resection of the vaginal mass, and pelvic lymphadenectomy. The histopathological examination confirmed clear surgical margins. According to the International Federation of Gynecology and Obstetrics (FIGO) staging system, the disease was classified as stage I vaginal cancer. Postoperatively, the patient received radiotherapy (45 Gy) and high-dose-rate brachytherapy (14 Gy). Conclusions: The co-occurrence of vaginal cancer and utero-vaginal prolapse is exceedingly rare. Surgical intervention followed by radiotherapy is the most common treatment approach. Given the aggressive nature of the disease, comprehensive follow-up is essential. Further research is needed to determine whether long-term genital prolapse increases the risk of vaginal carcinoma. Full article

Endometrial carcinosarcoma (ECS) is a rare and aggressive histological subtype of endometrial cancer that is associated with a dismal prognosis. It is a biphasic metaplastic carcinoma with a monoclonal origin comprising epithelial and mesenchymal components. The ECS originates from the epithelial components of the tumor, which undergoes an epithelial-to-mesenchymal transition. Approximately half of patients are diagnosed at the early stage of the disease, whereas the other half are diagnosed at the advanced stage. More than one-third of women present with metastatic lymph nodes, and approximately 10% will have distant metastases. Therefore, ECS is the deadliest type of endometrial cancer compared to other high-grade endometrial carcinomas. Surgical resection with adjuvant therapy remains the standard of care in most cases. The rarity of this disease hinders conducting prospective clinical trials to establish the optimal treatment regimens and increase overall survival. There are no specific guidelines for managing these rare and aggressive tumors despite the increasing interest in ECS in the gynecologic oncology community. The present review focuses on all new insights into ECS regarding its epidemiology, pathology, prognosis, and treatment. Furthermore, the molecular characteristics and new treatment regimens for primary (early and advanced stages) and recurrent ECS are discussed in detail. Full article

Background/Objectives: Vaginal adenocarcinoma is a rare malignancy, accounting for less than 10% of all primary vaginal cancers. It predominantly affects older women but can also occur in younger populations, particularly in association with in utero diethylstilbestrol (DES) exposure. Given its rarity, evidence regarding the optimal management of vaginal adenocarcinoma remains limited. This review aimed to summarize the current understanding of vaginal adenocarcinoma, covering the epidemiology, etiology, diagnostic approaches, treatment modalities, prognosis, and areas requiring further investigation thereof. Methods: We conducted a search for the term “vaginal adenocarcinoma” in the PubMed, Scopus, and Web of Science databases from January 2016 to 28 April 2025. Results: Overall, 83 articles were included in the final review. Among them, 21 cases of vaginal adenocarcinoma were reported. Vaginal adenocarcinoma demonstrates a bimodal age distribution, with clear cell histology commonly linked to DES exposure and endometrioid or mucinous types seen in older patients. Risk factors include DES exposure, chronic inflammation, and human papillomavirus (HPV) infection. The diagnosis relies on a pelvic examination, imaging, and biopsy. Treatment typically involves surgery, radiotherapy, or a combination thereof, tailored to the stage and location, with chemotherapy reserved for advanced cases. The prognosis depends on the histologic subtype, tumor size, stage, and treatment response, with early-stage disease generally associated with better outcomes. Conclusions: Improved awareness of risk factors and early diagnostic strategies is critical to optimize patient outcomes. Research is needed to refine treatment protocols, explore targeted therapies and immunotherapy, and investigate the molecular underpinnings of vaginal adenocarcinoma, particularly non-DES-associated types. Full article

Purpose: Current yoga programs for cancer survivors do not meet participants’ needs and are rarely implemented in community-based settings, despite reported benefits. The aim of the current study was to implement a co-created 12-week bi-modal Hatha-based yoga program for adults diagnosed with gynecologic cancer in the community and assess the feasibility and acceptability of the program and study methods. Methods: Using a mixed methods series N-of-1 A₁BA₂ research design, participants were recruited from The Ottawa Hospital. Participants self-selected a morning or evening program, completed surveys 9 to 11 times and were interviewed post-program. The yoga instructor was interviewed post-program about her experience delivering the program. Quantitative feasibility outcomes were tracked throughout the study. Qualitative acceptability outcomes were explored during post-program semi-structured interviews. Audio and video recordings of the yoga classes and data from the instructor interview were used to assess fidelity outcomes to determine whether the protocol could be adhered to consistently. Results: Forty-one individuals were screened for eligibility and 20 consented (48.7%). Seventeen participants (85.0%) completed the final survey. Participants attended 83.1% (19.9/24) of classes with varied engagement with optional features. The instructor was 61.3% adherent to the prescribed protocol, using recommended behaviors 44.6% of the time. Participants shared barriers and facilitators that influenced the success of the trial methods and program. Conclusions: The program was well-received and trial methods were moderately successful, but refinements are warranted before a large-scale trial. Community-based yoga programs could be feasible and acceptable for women with gynecologic cancer. Full article

The incidence of malignancies diagnosed during pregnancy is estimated at 1 in 1000 pregnancies, with cervical cancer being the most common gynecological malignancy in this population. The increasing maternal age and widespread use of prenatal screening contribute to the rising detection rates. Early symptoms of cervical cancer, such as vaginal bleeding or discharge, often mimic normal pregnancy changes, leading to potential delays in diagnosis. Cervical dysplasia, a known precursor of cervical cancer, is closely associated with high-risk HPV infection, which affects approximately 25% of women of reproductive age. Screening using cytology and HPV testing is considered safe and effective during pregnancy in early detection. Colposcopy remains the gold standard in further diagnostics, with targeted biopsy indicated in selected cases. In cases of high-grade lesions (CIN II/III), conservative management is often preferred, as more than 60% of lesions regress postpartum. Invasive cervical cancer diagnosed during pregnancy is rare, with an estimated incidence of 1.4–4.6 per 100,000 pregnancies. Management decisions depend on gestational age, cancer stage, and the patient’s reproductive preference. Chemotherapy can be administered after the first trimester with acceptable maternal and fetal safety profiles. This review presents current evidence on screening, diagnostic pathways, and treatment strategies. It emphasizes the importance of individualized care, multidisciplinary collaboration, and shared decision-making to optimize outcomes for both mother and fetus. Full article

Background: Cervical cancer treatment with advanced radiotherapy techniques benefits from image guidance, particularly when anatomical changes occur during therapy. This case emphasizes the need for adaptive radiotherapy when target volume shifts significantly. Methods: A 70-year-old woman with International Federation of Gynecology and Obstetrics (FIGO) IIIC2 9th edition cervical squamous cell carcinoma presented with a distended uterine cavity due to fluid accumulation. She underwent definitive chemoradiotherapy using Volumetric Modulated Arc Therapy (VMAT) and weekly cisplatin. Results: Daily Cone Beam Computed Tomography (CBCT) imaging revealed progressive uterine shrinkage as intrauterine fluid drained, significantly altering target volume and organ-at-risk (OAR) positioning. These changes necessitated two re-planning CT scans during external beam radiotherapy to maintain accurate dosing and avoid OAR toxicity. The patient completed treatment, including image-guided brachytherapy, without complications. Adaptive planning ensured adequate tumor coverage and minimized normal tissue exposure. Conclusions: This case highlights the critical role of daily CBCT in detecting anatomical changes during radiotherapy. Adaptive re-planning, though rarely required more than once, was essential here to preserve treatment accuracy. CBCT should be considered a standard verification tool in cervical cancer radiotherapy, particularly in cases involving intrauterine fluid. Full article

Background: Vulvar cancer is a rare gynecologic malignancy with increasing incidence. Lymph node status is the most critical prognostic factor, traditionally assessed through inguinofemoral lymphadenectomy, a procedure associated with significant morbidity. Sentinel lymph node biopsy (SLNB), in selected cases, has emerged as a less invasive alternative with favorable oncologic outcomes. Objective: This review summarizes current evidence on the indications, technique, safety, and oncologic outcomes of SLNB in vulvar cancer, with a focus on controversial scenarios such as recurrent and larger tumors. Methods: A narrative review of PubMed-indexed studies published in English over the last 35 years was conducted. Eligible studies included original research, systematic reviews, meta-analyses, randomized controlled trials, and case-control studies. Results: SLNB is recommended for unifocal vulvar tumors < 4 cm with stromal invasion > 1 mm and clinically negative nodes. Landmark trials, including GROINSS-V-I and GOG-173, confirmed its accuracy and lower morbidity compared to lymphadenectomy. SLNB utilization has increased since its inclusion in guidelines, with a concurrent decline in lymphadenectomy rates. Combined detection techniques are mandatory, while indocyanine green (ICG) is an emerging option. Future studies should focus on refining patient selection criteria, improving detection techniques, and clarifying the implications of low-volume nodal disease to further optimize outcomes for patients with vulvar cancer. Conclusion: SLNB is a validated, minimally invasive staging approach in early-stage vulvar cancer. Further research is needed to refine its role in high-risk cases and optimize detection methods. Full article

Background: Serous epithelial ovarian cancer is typically diagnosed at an advanced stage and often recurs following treatment. Isolated organ recurrence is rare in this disease, making treatment planning a critical decision. Therefore, we investigated the survival rates of patients who developed isolated liver recurrence. Methods: The entire cohort included patients who underwent cytoreductive surgery between January 1993 and December 2020. We evaluated patients who completed primary chemotherapy after cytoreductive surgery based on their status of isolated liver recurrence. We created two groups: patients with isolated parenchymal recurrence and patients with isolated capsular recurrence. Staging was based on the International Federation of Gynecology and Obstetrics (FIGO) 2014 staging criteria. For patients treated before 2014, cancer staging was adapted to the FIGO 2014 system based on a surgical and pathological assessment. Results: The mean ages of patients with liver capsule and parenchymal recurrence at the time of primary surgery were 47 ± 10.6 and 49 ± 8.9 years, respectively. The median recurrence of patients with capsular recurrence was 13 (2–70) months. In patients with parenchymal recurrence, the duration was 10 months (4–80) and was statistically insignificant. While survival was 41.5 (5–120) months in patients with capsular recurrence, it was 34 (12–120) months in patients with parenchymal recurrence, but there was no statistical difference. Conclusions: In our 27 years’ of experience with EOC management, we have studied patients with isolated liver recurrences. The finding that either capsular or parenchymal liver recurrence has no significant impact on overall survival suggests that both types of recurrence can be managed with similar treatment and follow-up approaches. This observation could simplify patient management and improve outcomes by allowing clinicians to focus on optimal surgical and systemic treatment strategies rather than the anatomic pattern of recurrence. Full article

Introduction: Actinomyces are commensal bacteria that colonize various sites in the human body. Under certain predisposing conditions, they can proliferate and cause granulomatous inflammation in different tissues. Pelvic actinomycosis is an extremely rare condition; its significance lies in the fact that it can be easily misdiagnosed as gynecological malignancy based on clinical manifestations and imaging findings. According to the literature, this type of inflammatory disease is a common mimic of ovarian cancer. Objective and methods: This paper aims to provide a comprehensive overview of the characteristics of pelvic actinomycosis through a literature review and the description of two cases collected between 2023 and 2024 at Azienda Ospedaliera Universitaria Santa Maria della Misericordia in Udine Italy. Full article

Fumarate hydratase (FH) deficiency is a rare, yet impactful metabolic disorder caused by mutations in the FH gene, affecting the Krebs cycle, leading to the accumulation of fumarate and pseudohypoxic states. This metabolic shift promotes cell signaling alterations that can drive tumorigenesis, as heterozygous germline mutations in the FH gene, resulting in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. FH-deficient uterine leiomyomas show peculiar histological features that may lead to misdiagnosis STUMP (smooth muscle tumor of uncertain malignant potential) and uLMS (uterine leiomyosarcoma). Definitive diagnosis involves clinical evaluation, imaging, and histopathological examination, with immunohistochemistry for FH protein being a key diagnostic tool. Management of FH-deficient leiomyomas may involve conventional treatments like surgery and hormonal therapy but also requires careful monitoring and genetic counseling for associated malignancies. High-intensity focused ultrasound (HIFU) has emerged as a promising treatment option for fibroids, although long-term efficacy remains a concern also because of its inability to obtain tissue for a pathological diagnosis. Fumarate hydratase deficiency (FHD) represents a significant challenge in gynecologic oncology due to its association with an increased risk of hereditary leiomyomatosis and renal cell carcinoma. Nevertheless, to the best of our knowledge, there is a lack of studies demonstrating the potential role of FH deficiency in increased risk of leiomyosarcomatosus transformation. Early detection, genetic screening, and personalized treatment approaches are critical for improving patient outcomes. The aim of this review is to develop a narrative overview of the implications of FHD in gynecological diseases and its correlation with cancer risk. For the first time, this review offers an overview of the necessity for studies to address the possible correlation between FH deficiency and the risk of developing leiomyosarcoma, focusing on new perspectives that can be explored in the field of better FH deficiency knowledge and cancer risk. Full article

Objectives: Vulvar squamous cell carcinoma (VSCC) is a rare gynecologic malignancy, with most cases arising from differentiated vulvar intraepithelial neoplasia (dVIN). Approximately one-third of VSCC cases originate from high-grade squamous intraepithelial lesions (HSILs), which are associated with persistent infection by varieties of high-risk human papillomavirus (hrHPV). This study aimed to quantify the circulating microRNAs (miRNAs) in the plasma of patients with premalignant conditions (dVIN and HSILs) and VSCC using TaqMan Low-Density Arrays. Methods: Plasma samples were collected from 40 patients, including those treated for HSILs, dVIN, and VSCC. Quantitative real-time PCR (qRT-PCR) identified the circulating miRNAs differentially expressed in the plasma of VSCC patients compared to patients with precancerous lesions. Results: A total of 31 differentially expressed miRNAs (DEMs) were found to be significantly upregulated in plasma from VSCC patients compared to precancerous cases. None of the analyzed miRNAs were able to distinguish VSCC cases based on hrHPV tumor status. Conclusions: This study provides strong evidence that a distinct set of miRNAs can differentiate between plasma samples from VSCC patients and those with precancerous lesions. Thus, these DEMs have potential diagnostic and prognostic value. “Predisposing” DEMs could be developed as biomarkers to aid in the assessment of vulvar lesions, helping to exclude or confirm progression toward cancer. Full article

Background/Objectives: Vascular complications during ovarian cancer surgery are rare but potentially severe. The objective of this review was to underline the need to standardize and optimize the management of these rare complications within an evidence-based framework. Methods: This review included the literature until 29 December 2024 and finally analyzed 17 studies, with 40 vascular complications reported. Results: Complications primarily occurred intraoperatively and involved both arterial and venous systems. Management approaches involved interdisciplinary collaboration, including vascular surgeons and interventional radiologists. Nevertheless, the collected data do not accurately reflect the reality of vascular complications in ovarian cancer surgery, as more than half of the included studies were case reports or research letters. This highlights the lack of standardized guidelines and limited training in vascular surgery for gynecologic oncologists, the importance of preoperative planning, including detailed imaging, risk stratification, and a multidisciplinary approach to mitigate complications. The authors propose an algorithm emphasizing prevention, timely identification, and effective management of vascular injuries alongside postoperative monitoring. Conclusions: The findings stress the need for treatment in high-volume tertiary centers and advocate advanced surgical training, incorporating virtual reality simulations to address vascular complications. Future research should focus on large multicenter studies to establish evidence-based guidelines for managing vascular complications in ovarian cancer surgery. Innovations in technology and education may further improve outcomes, ensuring optimal care for patients undergoing these complex procedures. Full article

Background: Health-related quality of life (HRQoL) is an important patient-reported outcome for all cancer patients, including adult patients with rare solid cancers. However, current knowledge of HRQoL in this population is limited, which hinders the delivery of personalized care. This review aimed to explore the heterogeneity of HRQoL among adult patients with a solid rare cancer across the ten European Reference Network for Rare Adult Solid Cancers (EURACAN) domains and to summarize the HRQoL measures used in clinical research. Methods: A systematic literature search was conducted to identify all clinical studies assessing HRQoL in adult patients with a solid rare cancer. Four databases (MEDLINE, PubMed, PsycINFO, and Web of Science/Scopus) were searched (February 2023). Results: The search yielded 18,704 articles, of which 1416 articles were fully screened and 463 were eligible for analysis. Of these, 397 studies used generic tools to assess HRQoL, while 270 used tumor-specific instruments. Three EURACAN domains (sarcoma, endocrine tumors, and thoracic tumors) primarily assessed HRQoL using generic questionnaires. Additionally, the rare gynecological tumor, rare male genitourinary, and sarcoma EURACAN domains lacked specific HRQoL measures. Brain, head and neck, and uveal melanoma EURACAN domains used tumor- or domain-specific questionnaires in more than half of the studies. Conclusions: This state-of-the-art literature review shows that HRQoL assessment is gradually becoming more prevalent in adult solid rare cancer research. A combination of generic, tumor-specific, and domain-specific questionnaires across various rare cancer domains has proven effective in capturing a broad range of HRQoL issues. However, many EURACAN domains still lack specific strategies for assessing HRQoL, which limits the ability to fully understand and address patients’ experiences. Future research should prioritize developing comprehensive and robust HRQoL measurement strategies and tools to enable meaningful clinical research and to ensure that the patient voice is incorporated in their clinical care. Full article

Background: Vulvar carcinoma is an uncommon gynecological tumor primarily affecting older women. Its treatment significantly impacts the quality of life and, not least, aesthetics because of the mutilating surgery it requires. Objectives: The management requires a multidisciplinary team of specialists who know how to care for the patient in her entirety, not neglecting psychological aspects and reconstructive surgery. How do the guidelines address multidisciplinarity, team surgical management, passing through preoperative diagnosis, and follow-up in such a challenging rare tumor to treat? Methods: To answer these questions, we compared the main scientific recommendations to identify similarities and differences in diagnostic and therapeutic management to provide an overview of the gaps that there are currently in European and American international recommendations in providing management guidance in a cancer that is both among the rarest and most difficult to manage. In this way, we aim to encourage an update in practices based on the latest scientific evidence. Results: A review of various international guidelines, some dating back to 2014, shows significant variation in approaches, ranging from initial diagnostic procedures to managing relapses. The most recent guidelines also lacked references to the latest literature, indicating that more robust scientific evidence is needed before new treatments, such as electrochemotherapy for palliation and reconstructive surgery post exenteration, can be widely adopted. Conclusions: From the systematic comparison of the main international guidelines, a strong heterogeneity emerged in the diagnostic and therapeutic recommendations as well as for the multidisciplinary approach that today is essential. Our work certainly stimulated an update of the main guidelines. Full article