-
Minerva Ginecologica Oct 2020BRCA1 and BRCA2 genes mutations seems to impact female fertility, in addition to increasing the risk of ovarian and breast cancer. Several studies had investigated this...
INTRODUCTION
BRCA1 and BRCA2 genes mutations seems to impact female fertility, in addition to increasing the risk of ovarian and breast cancer. Several studies had investigated this issue but data available are still controversial. In order to clarify the role of BRCA1 and BRCA2 mutations in female fertility and ovarian function we carried out a systematic review of the literature with the aim to establish a possible management's strategy of these patients.
EVIDENCE ACQUISITION
A review of current literature regarding BRCA mutation (BRCAm) and fertility was conducted using the PubMed tool to select remarkable articles with the keywords "BRCA1/2 gene," "BRCA1/2 mutation," "anti-Müllerian hormone," "female fertility," "ovarian reserve" and "premature ovarian failure."
EVIDENCE SYNTHESIS
In current literature there are controversial findings about the relation between BRCA genes mutations and lifespan of female reproductive age. Several studies showed an higher risk of premature ovarian insufficiency of BRCAs mutations carriers, according to lower serum AMH level, primordial follicle count, or fewer oocyte yield after ovarian stimulation; on the other hand more recent studies reported not significant differences in serum AMH level or in reproductive outcomes between mutated and non-mutated BRCA patients. For this reason, currently there is not a strict recommendation for routine evaluation of fertility in female carriers of BRCA mutations. Nevertheless, the strong advice to complete childbearing by age 40 and then to undergo a risk-reducing salpingo-oophorectomy and the increased risk of infertility as a result of anticancer treatment in breast cancer BRCAm patients, make the issue of fertility and pregnancy planning in these women worthy of consideration.
CONCLUSIONS
A dedicated counseling to discuss these issues, eventually associated with a personalized assessment of serum AMH or antral follicle count in order to have a panoramic view of ovarian reserve, may be useful in the management of these patients.
Topics: Adult; Anti-Mullerian Hormone; BRCA1 Protein; BRCA2 Protein; Female; Heterozygote; Humans; Mutation; Ovarian Reserve; Pregnancy; Reproduction
PubMed: 32744451
DOI: 10.23736/S0026-4784.20.04624-9 -
European Journal of Obstetrics,... Apr 2024Uterine tumours resembling ovarian sex cord tumours (UTROSCTs) are extremely rare. To date, most patients with UTROSCTs have undergone hysterectomy and had a benign... (Review)
Review
OBJECTIVE
Uterine tumours resembling ovarian sex cord tumours (UTROSCTs) are extremely rare. To date, most patients with UTROSCTs have undergone hysterectomy and had a benign clinical course. Fertility-preserving surgery should be considered because some patients with UTROSCTs are aged < 40 years. This paper reviews the treatment and prognosis for patients with UTROSCTs, with a focus on fertility.
METHODS
PubMed, MEDLINE and Scopus were searched systematically for case reports and case series of UTROSCTs published in English from inception to December 2022, and initial treatment and recurrence rates were compared. The following data were extracted: age; symptoms; initial therapy; metastasis at diagnosis; disease-free survival (DFS); and recurrence.
RESULTS
In total, 147 patients (72 studies) reporting the clinical course of UTROSCTs were analysed. The median age at diagnosis was 50 years, and 28 (19.0 %) patients were aged < 40 years. Most patients (n = 125, 85.0 %) underwent hysterectomy as the initial surgery, with a recurrence rate of 17.6 % (n = 22). The recurrence rate was 30 % (n = 6) in patients who underwent mass resection (n = 20). Among the 15 patients who underwent mass resection aged < 40 years, seven went on to achieve pregnancy (46.7 %) and six had successful deliveries (40.0 %). No significant differences in 5- and 10-year DFS were found between the hysterectomy and mass resection groups (p = 0.123 and 0.0612, respectively). Bilateral salpingo-oophorectomy in addition to hysterectomy was not significantly associated with 10-year DFS (p = 0.548).
CONCLUSION
While total hysterectomy is the recommended treatment for UTROSCTs based on recurrence rates, mass resection is an acceptable treatment option for patients who wish to retain their childbearing potential. It is recommended that these women should plan for pregnancy and delivery as soon as possible after mass resection, and should undergo hysterectomy within 5 years.
Topics: Pregnancy; Female; Humans; Uterine Neoplasms; Ovary; Sex Cord-Gonadal Stromal Tumors; Fertility; Disease Progression; Ovarian Neoplasms
PubMed: 38310674
DOI: 10.1016/j.ejogrb.2024.01.039 -
Journal of Minimally Invasive Gynecology Mar 2021To compare reproductive and oncologic outcomes of patients diagnosed with early-stage epithelial ovarian carcinoma, borderline ovarian tumors, or nonepithelial ovarian...
OBJECTIVE
To compare reproductive and oncologic outcomes of patients diagnosed with early-stage epithelial ovarian carcinoma, borderline ovarian tumors, or nonepithelial ovarian carcinoma according to receipt of fertility-sparing surgery or conventional surgery.
DATA SOURCES
PubMed was searched from January 1, 1995, to May 29, 2020.
METHODS OF STUDY SELECTION
Studies were included if they (1) enrolled women of childbearing age diagnosed with ovarian cancer between the ages of 18 years and 50 years, (2) reported on oncologic and/or reproductive outcomes after fertility-sparing surgery for ovarian cancer, and (3) included at least 20 patients.
TABULATION, INTEGRATION, AND RESULTS
The initial search identified 995 studies. After duplicates were removed, we abstracted 980 unique citations. Of those screened, 167 publications were identified as potentially relevant, and evaluated for inclusion and exclusion criteria. The final review included 44 studies in epithelial ovarian cancer, 42 in borderline ovarian tumors, and 31 in nonepithelial ovarian carcinoma. The narrative synthesis demonstrated that overall survival does not seem to be compromised in patients undergoing fertility-sparing surgery compared with those undergoing conventional surgery, although long-term data are limited. Areas of controversy include safety of fertility-sparing surgery in the setting of high-risk factors (stage IC, grade 3, and clear cell histology), as well as type of surgery (salpingo-oophorectomy vs cystectomy). It seems that although there may be some fertility compromise after surgery, pregnancy and live-birth rates are encouraging.
CONCLUSION
Fertility-sparing surgery is safe and feasible in women with early-stage low-risk ovarian cancer. Pregnancy outcomes for these patients also seem to be similar to those of the general population.
Topics: Adolescent; Adult; Carcinoma, Ovarian Epithelial; Female; Fertility Preservation; Humans; Middle Aged; Neoplasm Staging; Ovarian Neoplasms; Ovariectomy; Pregnancy; Pregnancy Outcome; Retrospective Studies; Salpingo-oophorectomy; Treatment Outcome; Young Adult
PubMed: 32861046
DOI: 10.1016/j.jmig.2020.08.018 -
The Journal of International Medical... May 2021Pleomorphic rhabdomyosarcomas of the uterus (PRMSu) is a rare malignant tumor of the female genital tract. Accurate diagnosis and effective treatment of PRMSu are...
Pleomorphic rhabdomyosarcomas of the uterus (PRMSu) is a rare malignant tumor of the female genital tract. Accurate diagnosis and effective treatment of PRMSu are important. We report an 81-year-old woman who was diagnosed with PRMSu. She had an extremely unusual presentation of secondary dyspnea because of an extremely large uterus (26.0 cm). Pelvic magnetic resonance imaging showed rare severe enlargement and intrauterine filling with tumor tissue, and she was initially diagnosed with uterine leiomyosarcoma. The patient underwent hysterectomy, as well as bilateral salpingo-oophorectomy and omentectomy, and was finally confirmed as having PRMSu by histopathology combined with immunohistochemistry. We performed a systematic review of the literature between 1982 and 2020 and focused on different treatment strategies and prognosis of PRMSu. A retrospective review of 28 cases was conducted and survival analysis was estimated by using the Kaplan-Meier method. We found that the accuracy of diagnosis of PRMSu completely depends on histopathology and immunohistochemistry because of no special clinical symptoms, no sensitive tumor markers, and no special imaging findings. Although there is no standardized approach for treating this rare disease, the treatment strategy of a surgical operation combined with adjuvant chemotherapy appears to be the best choice.
Topics: Aged, 80 and over; Female; Humans; Hysterectomy; Leiomyosarcoma; Retrospective Studies; Rhabdomyosarcoma; Uterine Neoplasms
PubMed: 34034549
DOI: 10.1177/03000605211014360 -
European Journal of Pediatric Surgery :... Feb 2024All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged...
Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis-A Systematic Review of the Literature and the ARM-Net Consortium Experience.
PURPOSE
All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences. Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature.
METHODS
The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data.
RESULTS
Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only two patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In 40 (67%) patients the anatomy of genitalia was not mentioned.
CONCLUSION
Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and laboratory workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress.
PubMed: 38216143
DOI: 10.1055/a-2244-4551 -
Archives of Gynecology and Obstetrics Oct 2019Uterine angioleiomyoma is a rare type of leiomyoma variant and there are few cases reported in the literature. The definitive diagnosis is usually obtained only after...
PURPOSE
Uterine angioleiomyoma is a rare type of leiomyoma variant and there are few cases reported in the literature. The definitive diagnosis is usually obtained only after the histopathologic examination because there are no specific imaging criteria for this disease. The objective of this article is to review published cases about this clinical condition.
METHODS
We report a case of giant angioleiomyoma superinfected by S. agalactiae with the development of latero-cervical distant metastasis in a premenopausal woman. Firstly, the case herein reported was orientated as an endometrial stroma sarcoma in the peri-operative histologic examination by frozen sections. It was treated with laparotomic total hysterectomy, bilateral salpingo-oophorectomy, inframesocolic omentectomy and pelvic and paraaortic lymph node dissection. Postoperative definitive anatomopathological analyses using a proper immunohistochemical panel revealed a case of uterine angioleiomyoma. We also review other case reports published about this clinical condition.
RESULTS
We present the first case reported in the literature, in our knowledge, of a giant angioleiomyoma superinfected by S. agalactiae with the development of distant septic metastases. Immunohistochemistry permitted the definitive diagnosis of angioleiomyoma. Treatments previously reported are hysterectomy or tumor resection and any patient recurred.
CONCLUSIONS
The definitive diagnosis is usually obtained after the definitive histopathologic examination since the use of immunohistochemical study has an important role in this regard. Complete surgical removal of the lesion is the treatment of choice, with no recurrent cases reported to date.
Topics: Angiomyoma; Female; Humans; Middle Aged; Neoplasm Metastasis; Neoplasms; Sepsis; Uterine Neoplasms
PubMed: 31435775
DOI: 10.1007/s00404-019-05267-w