An immature teratoma is a germinal malignant tumor composed of three germ cell layers, occurring more frequently in young women. It is the second most frequent among the malignant germinal tumors after dysgerminoma, and it is the only neoplasm with germ cells that are histologically graded. Even if we do not have a consensus regarding its therapeutical management, it has a good prognosis, with an excellent overall survival rate and good fertility preservation. More studies are needed regarding the necessity of adjuvant chemotherapy in pediatric oncology, and because of chemotherapy’s long-term adverse effects, surveillance or a targeted treatment is preferred, but the main therapy is fertility-sparing surgery. Special attention should be given to the genetic mapping of the histological pieces for patient risk stratification due to its value in prognosis and future treatment.

This comprehensive review explores the genetic contributions to endometriosis and their potential impact on improving diagnostic techniques. The review begins by defining endometriosis and discussing its prevalence, emphasizing the need for a deeper understanding of the genetic basis of the condition. It highlights recent genome-wide association studies (GWAS) that have identified specific genetic variants associated with endometriosis, shedding light on the molecular pathways and mechanisms involved. The review addresses genetic heterogeneity across different populations and ethnicities, emphasizing the importance of considering population-specific markers in diagnostic approaches. It explores the diagnostic implications of genetic insights, including the potential use of genetic markers for precise and early detection, as well as risk prediction. The review also delves into the integration of genetic information with clinical parameters and imaging findings, and the exploration of multi-omics approaches for a comprehensive understanding of endometriosis. It discusses recent studies on genetic and epigenetic biomarkers, their potential as diagnostic tools, and the need for validation in independent cohorts. The review highlights the impact of new genomic technologies, such as next-generation sequencing, in improving diagnostic accuracy and personalized management. It identifies the challenges and future directions in translating genetic findings into diagnostic tools and emphasizes the transformative potential of genetic insights in endometriosis diagnosis. This review provides a roadmap for future research and underscores the significance of genetic insights in improving diagnostic precision and personalized care for individuals with endometriosis.

Human papillomaviruses (HPVs) are common sexually transmitted infectious agents responsible for several anogenital and head and neck cancers. Cervical cancer (CC) is the fourth leading cause of death in women with cancer. The progression of a persistent HPV infection to cancer takes 15–20 years and can be preventable through screening. Cervical cytology (Pap smear) is the standard screening test for CC and precancerous lesions. For ASC-US and ASC-H lesions, a combination of Pap smear and HR-HPV analysis is recommended as a triage step before colposcopy. However, these tests cannot predict progression to CC. For this purpose, we summarized current scientific data on the role of p16/Ki-67 immunohistostaining, telomerase and fibronectin in predicting progression to CC. p16 and p16/Ki-67 dual staining (DS) were more specific than HR-HPV DNA testing for the detection of CIN2+/CIN3+ in women with ASC-US and LSIL. Similarly, hTERC FISH analysis significantly improved the specificity and positive predictive value of HPV DNA testing in differentiating CIN2+ from CIN2 cytological samples. In conclusion, p16 IHC, p16/Ki-67 DS and hTERC FISH amplification are all valid adjunctive biomarkers which significantly increase the sensitivity and specificity of cervical dysplasia diagnosis, especially when combined with HPV DNA testing. However, considering the global socioeconomic background, we can postulate that p16 and p16/ Ki-67 IHC can be used as a next step after positive cytology for ASC-US or LSIL specimens in low-income countries, instead of HPV DNA testing. Alternatively, if HPV DNA testing is covered by insurance, p16 or p16/Ki-67 DS and HPV DNA co-testing can be performed. In middle- and high-income countries, hTERC amplification can be performed as an adjunctive test to HPV DNA testing in women with ASC-US and LSIL.

Dysgerminoma represents a rare malignant tumor composed of germ cells, originally from the embryonic gonads. Regarding its incidence, we do not have precise data due to its rarity. Dysgerminoma occurs at a fertile age. The preferred treatment is the surgical removal of the tumor succeeded by the preservation of fertility. Even if a multidisciplinary team, founded in 2009 by a gynecologist, an oncologist, a pediatric oncologist and a pediatric surgeon, under the guidance of the Malignant Germ Cell International Consortium (MaGIC), studies this type of tumor, issues still remain related to the lack of a randomized study and to both the management and understanding of the concept of OMGCTs (ovarian malignant germ cell tumors). The aim of this review is to present from the literature the various approaches for this type of tumor, and, regarding innovative therapies or possible prevention, which can be applied in clinical practice. Multidisciplinarity and treatment in reference centers have proven their usefulness as well.

Benign uterine disorders, including uterine fibroids (UF) and adenomyosis (AM), can impact the life quality and fertility of women of reproductive age. Transvaginal ultrasound (TVUS) has long been used for their early identification, but its combined use with elastography seems to improve diagnostic accuracy of UF and AM. Thus, a prospective pilot study was conducted on 79 patients who underwent hysterectomy (25 microscopically diagnosed with AM and 53 with UF), with the aim of assessing the ability of TVUS combined with strain ratio elastography (SE) to accurately diagnose and distinguish UF and AM. Significantly higher mean and maximal strain ratio (SR) values were identified for patients with histologically confirmed AM as opposed to those with UF (p < 0.001). Diagnostic sensitivity and specificity, calculated in comparison with histology results, were higher for UF than AM. Receiver operating characteristic (ROC) analysis was applied between the two study groups, revealing cutoff values of 7.71 for mean SR and 8.91 for maximal SR, respectively, with good sensitivity and specificity parameters (100% and 96.23%; 96% and 96.23%). Our results support the use of TVUS in combination with SE for the positive and differential diagnosis of UF and AM, through identification of their particular tissue stiffness features.

Uterine fibroids (UFs) and adenomyosis (AM) represent two benign uterine conditions that can affect fertility and are most frequently commonly responsible for abnormal uterine bleeding and chronic pelvic pain. Their differential diagnosis still represents a challenge, and several authors advise the addition of elastography to transvaginal ultrasound (TVUS) for a more accurate imagistic recognition. Through this study, we aimed to assess the diagnostic accuracy of TVUS combined with strain-ratio elastography (SRE) in concomitant AM and UFs. We conducted a study on 17 patients diagnosed with concomitant UFs and AM undergoing hysterectomy and 46 healthy patients. TVUS combined with SRE was conducted in each patient, focusing on identifying rigidity patterns of the lesions. Significantly higher mean SR and maximum SR values were identified among both AM and UF lesions as opposed to controls (p < 0.01), with the highest tissue stiffness being encountered among AM lesions, which allows for the differentiation of UF (p < 0.01) and concomitant identification of both lesions. These results are reflected by higher cut-off values obtained for AM, both for mean SR (5.42 vs. 2.85) and maximum SR (5.80 vs. 3.30). TVUS combined with SRE showed good diagnostic performance in identifying coexisting UFs and AM within the same uterine specimen. Future studies on wider populations are required to validate our findings.