An explainable machine learning model to solid adnexal masses diagnosis based on clinical data and qualitative ultrasound indicators.

Background: Accurate characterization of newly diagnosed a solid adnexal lesion is a key step in defining the most appropriate therapeutic approach. Despite guidance from the International Ovarian Tumor Analyzes Panel, the evaluation of these lesions can be challenging. Recent studies have demonstrated how machine learning techniques can be applied to clinical data to solve this diagnostic problem.

BRCA Mutation Patients: Are There Other Predisposing Factors for Ovarian Cancer Occurrence? A Multicenter Retrospective Study.

Objectives: The objective of this multicenter retrospective study aimed to evaluate the association of clinical variables and the incidence of ovarian cancer in patients with BRCA 1-2 mutation carriers who underwent risk-reducing salpingo-oophorectomy (RRSO).

Design: Patients with a pathogenic mutation of BRCA 1-2 genes and with no evidence of disease are considered eligible. The exclusion criterion was the refusal to undergo the surgery.

A human-interpretable machine learning pipeline based on ultrasound to support leiomyosarcoma diagnosis.

The preoperative evaluation of myometrial tumors is essential to avoid delayed treatment and to establish the appropriate surgical approach. Specifically, the differential diagnosis of leiomyosarcoma (LMS) is particularly challenging due to the overlapping of clinical, laboratory and ultrasound features between fibroids and LMS. In this work, we present a human-interpretable machine learning (ML) pipeline to support the preoperative differential diagnosis of LMS from leiomyomas, based on both clinical data and gynecological ultrasound assessment of 68 patients (8 with LMS diagnosis).

An explainable machine learning ensemble model to predict the risk of ovarian cancer in BRCA-mutated patients undergoing risk-reducing salpingo-oophorectomy.

Introduction: It has been estimated that 19,880 new cases of ovarian cancer had been diagnosed in 2022. Most epithelial ovarian cancer are sporadic, while in 15%-25% of cases, there is evidence of a familial or inherited component. Approximately 20%-25% of high-grade serous carcinoma cases are caused by germline mutations in the BRCA1 and BRCA2 genes.

Overlap of Suspicious and Non-Suspicious Features in the Ultrasound Evaluations of Leiomyosarcoma: A Single-Center Experience.

Leiomyosarcoma (LMS) is a rare type of mesenchymal tumor. Suspecting LMS before surgery is crucial for proper patient management. Ultrasound is the primary method for assessing myometrial lesions.

The Role of Hormonal Replacement Therapy in BRCA Mutated Patients: Lights and Shadows.

All cancers develop as a result of mutations in genes. DNA damage induces genomic instability and subsequently increases susceptibility to tumorigenesis. Women who carry mutations of BRCA 1 and BRCA2 genes have an augmented risk of breast and ovarian cancer and a markedly augmented probability of dying because of cancer compared to the general population.

Machine learning applied to MRI evaluation for the detection of lymph node metastasis in patients with locally advanced cervical cancer treated with neoadjuvant chemotherapy.

Purpose: Concurrent cisplatin-based chemotherapy and radiotherapy (CCRT) plus brachytherapy is the standard treatment for locally advanced cervical cancer (LACC). Platinum-based neoadjuvant chemotherapy (NACT) followed by radical hysterectomy is an alternative for patients with stage IB2-IIB disease. Therefore, the correct pre-treatment staging is essential to the proper management of this disease.

A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients.

Background And Aim Of The Work: BRCA1/2 are tumour-suppressor genes involved in DNA homologous recombination and ovarian cancer development.  The study evaluated the risk of tumor cancer in women presenting the BRCA mutations.

Methods: Risk-reducing surgery (RRS) was performed in 100 patients carrying BRCA1 (aged between 30-73 years, median age was 51 years) and BRCA 2 mutation (aged between 36-70 years, median age was 53 years).

Characteristics and outcome of BRCA mutated epithelial ovarian cancer patients in Italy: A retrospective multicenter study (MITO 21).

Objective: Around 15% of epithelial ovarian cancer (EOC) patients (pts) harbor a germline BRCA1 or 2 mutation, showing different features than BRCA wild-type pts. The clinical and pathological features of an Italian BRCA mutated EOC cohort were described.

Methods: We retrospectively analyzed clinical, pathological and mutational data from a cohort of Italian BRCA mutated EOC pts.

PARP inhibitors and epithelial ovarian cancer: Molecular mechanisms, clinical development and future prospective.

Epithelial ovarian cancer (EOC) has a poor prognosis. Since the introduction of paclitaxel as antineoplastic agent >20 years ago, only a few phase III randomized trials have shown challenging data regarding different therapeutic options for facing its aggressive clinical course and granting active therapies to patients. Different studies have shown the utility of poly(ADP-ribose) polymerase (PARP) inhibitors in women with EOC with or without mutations, both germline and somatic.

In Vitro Generation of Oocytes from Ovarian Stem Cells (OSCs): In Search of Major Evidence.

The existence of ovarian stem cells (OSCs) in women as well as their physiological role in post-menopausal age are disputed. However, accumulating evidence demonstrated that, besides the animal models including primarily mice, even in adult women putative OSCs obtained from ovarian cortex are capable to differentiate in vitro into oocyte-like cells (OLCs) expressing molecular markers typical of terminal stage of oogonial cell lineage. Recent studies describe that, similarly to mature oocytes, the OSC-derived OLCs also contain haploid karyotype.

Paget disease of the vulva an analysis of 24 cases.

Paget's disease can arise in the breast (mammary Paget disease) or in other locations (extramammary Paget disease) such as anogenital skin in both males and females (Paget disease of the vulva [PDV]). Underlying adenocarcinoma can be found in some cases. This study aims to report clinical aspects, surgical procedures, outcomes, and recurrences of patients with PDV.

Hysteroscopy as a valid tool for endometrial pathology in patients with postmenopausal bleeding or asymptomatic patients with a thickened endometrium: hysteroscopic and histological results.

Objective: This study compares hysteroscopic and histopathological results in postmenopausal women with abnormal uterine bleeding (AUB) and asymptomatic postmenopausal women with a thickened endometrium.

Materials And Methods: This is a retrospective study of 570 cases hysteroscopically examined between January 2008 and July 2012. The patients were followed up at the Istituto Tumori 'Giovanni Paolo II', Bari, Italy.

BRCA1/2 and clinical outcome in a monoinstitutional cohort of women with hereditary breast cancer.

The clinical outcome of BRCA mutation carriers and non-carriers still remains a topic of discussion. In order to interpret controversial data, in the present study, we analyzed a large consecutive monoinstitutional series of breast cancer patients and relatives with familial features carrying or not carrying BRCA mutations. The intense research in recent years regarding the clinical genetics of patients with breast or ovarian cancer and their relatives has allowed the organization of a unique database comprising anamnestic, clinical, pathological and molecular data.

Benign granular cell tumor of the vulva: first report of multiple cases in a family.

Granular cell tumors (GCTs) are uncommon soft tissue tumors of neural derivation, as supported by immunohistochemical and ultrastructural evidence. Vulvar involvement has been reported in 7-16%. This paper presents the cases of a 60-year-old woman and her 32-year-old niece with a strong family history of cancer, both presenting with an enlarging mass on their left labia majora.