External validation of a model predicting de novo stress urinary incontinence after pelvic organ prolapse surgery.

AIMS: De novo stress urinary incontinence (SUI) may develop after surgical correction of advanced pelvic organ prolapse (POP) in otherwise continent women. Prediction of which women with POP will develop SUI after the prolapse is corrected is difficult. We aimed to externally validate a previously described prediction model for de novo SUI after performing vaginal surgery for POP and to assess its clinical performance when used as a diagnostic test. METHODS: This retrospective cohort study included all continent women with ≥ stage 2 POP according to the POP-Quantification System who underwent reconstructive surgery for symptomatic POP. Surgical correction for prolapse of the anterior and/or apical compartment was performed using native tissue or vaginal mesh repair. Seven parameters of the prediction model including age at surgery, number of vaginal births, body mass index, preoperative stress test, previous continence procedure history, urine leakage associated with a feeling of urgency, and diagnosis of diabetes for each patient was provided from the medical records, and the predicted probability of de novo SUI after POP surgery was calculated. The primary outcome used to validate the prediction model was the presence of SUI 1 year after surgery. A receiver operating characteristic (ROC) curve was generated to evaluate the predictive accuracy. A cut-off point of ≥ 50% was used to evaluate its clinical performance as a diagnostic test. RESULTS: Two hundred twenty-five women were suitable for analysis. The rate of de novo SUI was 5.3%. The predictive accuracy of the model in our population using the area under the ROC curve was 0.56 (95% confidence interval = 0.35-0.77). Its performance as a diagnostic test was poor (positive likelihood ratio = 1.20 and negative likelihood ratio = 0.89). CONCLUSIONS: Our clinical validation of this model showed that it did not have good clinical performance. We need future prospective studies to identify and incorporate additional markers of de novo SUI to improve the prediction capacity.

Effect of the COVID-19 pandemic and social distancing measures on the sexual functions of women treated for vaginismus (genitopelvic pain/penetration disorder).

INTRODUCTION AND HYPOTHESIS: Female sexual function is influenced by the emotional and hormonal state. COVID-19 has been the major global health crisis of our time with high psychosocial impact. Vaginismus is a form of female sexual dysfunction and a subset of genitopelvic pain/penetration disorder in which any form of vaginal penetration is painful or impossible. Our aim was to evaluate the effect of the COVID-19 pandemic on sexual function of women treated for vaginismus. MATERIALS AND METHODS: All women treated using dilators between 2018-2019 were included. Data obtained 3 months after comfortable penetration and during the pandemic via telephone interview were compared. The Female Sexual Function Index (FSFI), Golombok-Rust Inventory of Sexual Satisfaction (GRISS), and Beck Depression Inventory (BDI) were used to evaluate sexual function and depression. Frequency of sexual intercourse and pain was compared using a visual analogue scale. RESULTS: Seventy-seven women were included. Mean duration of treatment and number of treatment sessions were 3.5 ± 2.6 months and 4.2 ± 2.6, respectively. There were significant improvements in the FSFI desire, arousal, orgasm, and pain subscales and total score and in the GRISS infrequency, noncommunication, avoidance, non-sensuality, and vaginismus subscales and total score during the pandemic. The GRISS dissatisfaction and anorgasmia subscales and BDI score significantly worsened. Mean frequency of sexual intercourse was 2.3 ± 1.8/week and did not change significantly. Pain scores decreased during the pandemic (2.7 ± 2.8) compared to post-treatment (6.2 ± 2.9). CONCLUSION: Although frequency of sexual intercourse was not affected and pain scores and FSFI total and subscale scores improved, satisfaction and orgasm were adversely affected, which may be attributed to increased stress and anxiety during the pandemic.

Necrotizing Fasciitis Complicating Transobturator Tape Operation.

Midurethral slings (MUSs) have been used successfully for the last 20 years in the treatment of stress urinary incontinence and accepted as the gold standard surgical procedure. High success rates and minimal invasiveness of surgery are among the most important advantages, but sometimes serious complications can occur during or after surgery. Although serious complications are rare after widely performed transobturator tape (TOT) operation, awareness, early diagnosis, and aggressive management are essential as they can progress with serious morbidity and mortality. In order to reduce the infectious complications after MUS procedures, in addition to sterility of the operating theater and the operating equipment, the type of mesh used and the preparation of the surgical site are crucial. We aimed to pre-sent the successful management of a case of necrotizing fasciitis in a TOT patient.

Pregnancy in liver transplant recipients: A single center outcomes.

AIM: Liver transplantation (LT) is the only effective treatment for the end-stage liver disease. Although pregnancy after LT is considered to be safe, these patients are difficult to manage for obstetricians. In this study, we aimed to determine maternal and fetal outcomes in pregnancies after LT. METHODS: We conducted a retrospective review of liver transplant recipients who had received prenatal care and delivered pregnancy at Istanbul University Istanbul Medical Faculty, Department of Obstetrics and Gynecology January 2010 and January 2017. RESULTS: A total of eight pregnancies were identified during the study period. The mean age of the patients at the time of LT was 25.6 ± 5.3 years (range 19-36 years), and the mean age at conception was 30.1 ± 5.2 years (range 25-41 years). The mean interval between transplantation and conception was 54.2 ± 18.6 months (range 24-82 months). There was no a miscarriage or a stillbirth was observed in any of patients. Mean birth week was 37.2 ± 2.1 weeks and mean birthweight was 2852 ± 562 g (range 2150-3470 g). Three of eight deliveries (37.5%) occurred before 37 gestational weeks. Preeclampsia was detected in one patient, one pregnancy was complicated by intrauterine growth retardation and one case with gestational diabetes mellitus. Mean postnatal follow-up period was 3.2 ± 2.4 years (range 1-7 years) and all of the babies were healthy. Graft rejection occurred in one patient after delivery. CONCLUSION: More favorable pregnancy outcomes can be achieved with a multidisciplinary team and satisfactory counseling is mandatory either preconception and through the pregnancy to reduce maternal-fetal risks.

Impact of laparoscopic ovarian detorsion on ovarian reserve.

AIM: The aim of this study was to evaluate ovarian reserve after laparoscopic ovarian detorsion in patients with ovarian torsion. METHODS: From February 2014 to September 2015, a total of 11 patients with ovarian torsion underwent laparoscopic detorsion. These 11 patients were eligible for study, and ovarian reserve was assessed on serum anti-Müllerian hormone (AMH) and by antral follicle count preoperatively, and in postoperative months 1 and 3. RESULTS: Mean patient age was 25.4 ± 5.5 years. Although mean antral follicle count on the operated side was slightly lower than on the contralateral side at 1 month postoperatively (P > 0.05), at 3 months postoperatively there was no difference in mean antral follicle count between the operated and contralateral sides (P > 0.05). There was no significant change in serum AMH level at 1 and 3 months postoperatively compared with the preoperative level (P > 0.05). CONCLUSIONS: Laparoscopic detorsion of twisted ovary is a safe procedure to preserve ovarian function, and does not impair ovarian reserve according to antral follicle count and AMH during the course of follow-up.

Comparison of 2 Methods of Vaginal Cuff Closure at Laparoscopic Hysterectomy and Their Effect on Female Sexual Function and Vaginal Length: A Randomized Clinical Study.

STUDY OBJECTIVE: To compare the effects of the laparoscopic approach versus the vaginal route for the management of vaginal cuff closure during total laparoscopic hysterectomy on female sexual function in premenopausal patients with benign gynecologic conditions. DESIGN: A prospective study with a randomized, double-blind design (Canadian Task Force Classification I). SETTING: A university hospital. PATIENTS: Patients who were scheduled to have total laparoscopic hysterectomy because of benign conditions. INTERVENTIONS: Patients were randomized to vaginal cuff closure via the vaginal route versus the laparoscopic approach. The study included a total of 70 patients; 34 underwent the laparoscopic approach in the management of vaginal cuff closure, and 36 underwent the vaginal route. MEASUREMENTS AND MAIN RESULTS: Female sexual function and vaginal length were measured. The duration of total surgery was significantly shorter in the laparoscopic approach group compared with the vaginal route group (112.2 ± 36.5 vs 122.7 ± 53.6, p < .05). The total Female Sexual Function Index scores preoperatively and 3 months postoperatively were similar between the laparoscopic approach and vaginal route groups (all p > .05). Vaginal lengths 3 months postoperatively were significantly longer in the laparoscopic approach group compared with the vaginal route group (8.39 ± 0.90 vs 7.34 ± 1.17, p < .05). The duration of cuff closure was significantly shorter in the vaginal route group compared with the laparoscopic approach group (8.92 ± 2.23 vs 7.51 ± 2.5, p < .05). Preoperative vaginal lengths were significantly longer in comparison with 3 months postoperatively both in the laparoscopic approach and the vaginal route groups (all p < .05). The preoperative total Female Sexual Function Index scores were significantly higher in comparison with 3 months postoperatively both in the laparoscopic approach and the vaginal route groups (all p < .05). CONCLUSION: The results of this study indicate that the laparoscopic approach for vaginal cuff closure might be preferable because of better postoperative vaginal length and a shorter duration of total surgery time.

A Valuable Option in the Management of Female Recurrent Stress Urinary Incontinence: Re-Adjustable Sling (Remeex Sling System).

INTRODUCTION: This study was conducted to evaluate the effectiveness and safety of adjustable slings in the treatment of recurrent stress urinary incontinence (SUI) after mid-urethral sling (MUS) failure. MATERIALS AND METHODS: A prospective study was performed among women with recurrent SUI at the Urogynecology Division of Istanbul School of Medicine between February 2010 and March 2015. All women were preoperatively evaluated with detailed urogynecologic evaluations, which included pelvic examination, Q-tip test, pad test, urodynamic studies and a compilation of the Kings Health Questionnaire (KHQ). Postoperative follow-up was performed at 1, 6 and 12 months and annually thereafter. Our primary outcome was objective cure and patient's satisfaction with treatment. Secondary outcomes included perioperative complications and adverse events. RESULTS: Nineteen women were included in the study. The patients' mean age was 55.3 ± 6.9 years (range 43-66 years). The median follow-up time was 20.7 ± 14.0 months (range 6-55 months). The overall cure and improvement rates were 84.2 and 10.5%, respectively. In the satisfaction questionnaire, 15 (79%) patients responded that they were very satisfied and 3 (15.7%) were moderately satisfied. Sling tension re-adjustment was needed during follow-up in 1 patient (5.3%), 13 months after the initial surgery. The preoperative mean KHQ score was 545.9 ± 243.0 and changed to 237.0 ± 217.5 (p < 0.05). Postoperative complications were slight and easily manageable. CONCLUSIONS: Recurrent SUI is a challenging condition in urogynecology. The Regulation Mechanical External (Remeex) system has been found to be effective in the treatment of recurrent SUI after MUS failure with acceptable adverse effects. The Remeex system has the advantage of re-adjustment as a valuable option in the long-term management of patients.

Evaluation of the diagnostic role of transvaginal ultrasound measurements of endometrial thickness to detect endometrial malignancy in asymptomatic postmenopausal women.

PURPOSE: To assess the diagnostic accuracy of endometrial thickness measurements of transvaginal ultrasound (TVUS) in asymptomatic postmenopausal women in the detection of endometrial malignancy. METHODS: A retrospective cohort study in a university hospital was undertaken with 276 consecutive asymptomatic postmenopausal women undergoing dilatation and curettage (D&C) and hysteroscopy for an incidental finding of thickened endometrium (≥4 mm) between 2003 and 2012. Different endometrial thickness cutoff values were tested on the basis of a pathologic report with carcinoma conditions (endometrial hyperplasia with atypia and endometrial carcinoma). RESULTS: The mean age of patients was 59.8 ± 9.0 years. The mean duration of menopause was 11.2 ± 8.9 years. The final pathology diagnoses included 107 (38.8 %) patients with polyps, 42 (15.2 %) with atrophic endometrium, 39 (14.1 %) with estrogen exposure, and 19 (6.9 %) with normal endometrium. With regard to carcinoma conditions, nine patients (3.3 %) had endometrial hyperplasia with atypia and eight patients (2.9 %) had endometrial carcinoma. The area under the ROC curve was 0.52 (95 % CI 0.44-0.57), which indicated a poor accuracy of endometrial thickness of TVUS for carcinoma conditions. CONCLUSIONS: Routine use of endometrial thickness measurement with TVUS does not seem to be an effective diagnostic tool for endometrial cancer because it has a low diagnostic performance in asymptomatic postmenopausal women. Further prospective studies are required to assess the endometrial thickness measurement with TVUS as a screening method in these women.

Fetal nasal bone hypoplasia in the second trimester: Comparison of diagnostic methods for predicting trisomy 21 (Down syndrome).

PURPOSE: The aim of this prospective observational study was to identify the best method for use in diagnosing fetal nasal bone (NB) hypoplasia in the second trimester as a means of predicting trisomy 21 (Down syndrome). METHODS: The NB length (NBL), NBL percentiles, and NBL multiple-of-median (MoM) values and the biparietal diameter-to-NBL ratios were calculated and compared in an attempt to identify the best predictive method and most appropriate cutoff value. Predictive values for several cutoff points were calculated. Receiver operating characteristic curves at a fixed 5% false-positive rate were used to compare the four methods. RESULTS: NBL measurements were obtained from 2,211 (95.6%) of a total of 2,314 fetuses. Data from 1,689 of those 2,211 fetuses were used to obtain reference ranges, derive a linear regression equation, and calculate NBL percentiles and MoM values. Using a fixed 5% false-positive rate, we found 25.5% sensitivity for NBL (95% confidence interval [CI], 15-39.1) and 23.5% sensitivity for NBL percentiles (95% CI, 13.4-37), NBL MoM values (95% CI, 13.4-37), and biparietal diameter-to-NBL ratios (95% CI, 13.4-37). CONCLUSIONS: Our study demonstrated that all four methods can be used in the second trimester for diagnosing fetal NB hypoplasia as a means of predicting trisomy 21 because their predictive values are similar at a fixed 5% false-positive rate. For simplicity of use, we recommend using 3 mm as the NBL cutoff value.

Metastatic gastric signet-ring cell carcinoma: A rare cause of acute appendicitis.

We report a 32-year-old patient who underwent laparoscopy with classical symptoms and signs of acute appendicitis. An inflamed, edematous and non-perforated appendix, also a large amount gelatinous ascites, omental and peritoneal implants were seen. Appendectomy was performed and multiple biopsies were taken from omentum and peritoneum for definitive diagnosis. Histopathologic diagnosis was a metastatic gastric signet-ring cell carcinoma (GSRCC) involving appendix and other specimens. A flat lesion involving corpus to antrum was diagnosed by gastroscopy and GSRCC was verified histopathologically in a tertiary centre and the case evaluated as stage IV gastric carcinoma. This case with no sign of gastric cancer was presented as an acute appendicitis. Metastatic carcinoma to the appendix, causing acute appendicitis is extremely rare in clinical practice and usually associated with high morbidity and mortality.

Recurrent pyoderma gangrenosum after cesarean delivery successfully treated with vacuum-assisted closure and split thickness skin graft: a case report.

We describe the case of a 32-year-old woman (gravidity: 4; parity: 2) who underwent cesarean delivery at 37 weeks of gestation and presented with dehiscence and infection of the surgical wound. She had a history of wound infection and dehiscence of the scar from a previous cesarean delivery and dehiscence in the dorsal side of her left hand at the site of intravenous catheterization. The patient was initially diagnosed with a skin infection and later with pyoderma gangrenosum. No evidence of any underlying disease was found. The lesions were treated with systemic corticosteroids and azathioprine, but the lesions were unresponsive to treatment. This complicated case of pyoderma gangrenosum after cesarean delivery, which initially mimicked wound infection, was successfully treated with vacuum-assisted closure and split-thickness skin graft. This synergistic approach with vacuum-assisted closure could be an important treatment option for aggressive and slow-healing lesions.

Acute colonic pseudo-obstruction after hysterectomy in a patient with Friedreich ataxia.

Acute colonic pseudo-obstruction is a rare complication of gynecological surgery. Despite the complete description of this condition, diagnosis remains difficult and is often delayed. Due to delay in diagnosis and existence of serious comorbid illnesses, morbidity and mortality approaches higher levels. Early recognition of signs and symptoms of this condition and prompt accurate management are vital to prevent serious mortality. Here, we report a case of acute colonic pseudo-obstruction after total abdominal hysterectomy in a patient with known Friedreich ataxia.

Stage-related outcome after fetoscopic laser ablation in twin-to-twin transfusion syndrome.

AIM: To review the perinatal outcome of twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic laser coagulation in a developing country with detailed analysis according to the stage of the syndrome. METHODS: This was a retrospective study of 85 TTTS cases treated with fetoscopic laser coagulation at the Fetal Diagnosis and Treatment Unit of Istanbul Faculty of Medicine between January 2006 and March 2013. RESULTS: The surgical failure rate was 5.8% (5/85). Among all the cases of the total cohort, only 1 fetus survived in 27 pregnancies (31.8%), and both fetuses survived in 22 pregnancies (25.9%). In 49 pregnancies (57.6%) at least one fetus survived at the end of the neonatal period. The overall survival and live birth rates were 41.8% (71/170) and 56.4% (96/170), respectively, and they significantly decreased as the stage of disease increased. Delivery occurred before 32 weeks of gestation in 54 (63.5%) pregnancies. Logistic regression analysis showed that gestational age at delivery was the only independent factor, and the risk of nonsurvival significantly decreased with increasing age. CONCLUSION: Based on our experience, the outcome of fetoscopic laser coagulation of the placental anastomoses for TTTS became worse as the Quintero stage of the disease advanced.

Bipolar cord coagulation in the management of complicated monochorionic twin pregnancies.

AIM: To report our experience in selective termination of monochorionic twin pregnancies with bipolar cord coagulation and to analyze the pregnancy outcomes and complications based on the indication of the procedure. METHODS: This is a retrospective study of 71 complicated monochorionic pregnancies treated with bipolar cord coagulation between August 2006 and March 2013. RESULTS: The rates of live birth and survival up to 28 days after birth were 73.2% (52/71) and 63.4% (45/71), respectively. The highest rates of survival up to 28 days after birth were in the procedures with an indication of selective intrauterine growth restriction, while the lowest rates of survival were recorded with the indication of twin reversed arterial perfusion sequence and discordant anomaly. However, there were no statistically significant differences in the live birth and perinatal survival rates among the four different groups of indications. CONCLUSION: The survival rate of bipolar cord coagulation in complicated monochorionic pregnancies such as twin-to-twin transfusion syndrome, twin reversed arterial perfusion sequence, selective intrauterine growth restriction and discordant anomaly was 63% in our series.

Detection rate of trisomy 21 in fetuses with isolated and non-isolated aberrant right subclavian artery.

OBJECTIVE: The purpose of this study was to determine the frequency of chromosomal anomalies among the fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA), and to evaluate the sonographic findings associated with ARSA. METHODS: This is a retrospective study conducted during the period between January 2008 and December 2012 at the maternal fetal medicine units of three different referral centers. RESULTS: Among the 148 cases of ARSA, 98 were isolated and 50 were associated with cardiac anomalies, extracardiac malformations or soft markers. Trisomy 21 was the only chromosomal anomaly with a prevalence of 6.8% (10/148). The corresponding rate was 6.1% (6/98) and 8% (4/50) for isolated and non-isolated ARSA, respectively. Cardiac anomalies, extracardiac findings and soft markers were detected in 5.4% (8), 10.8% (16) and 24.3% (36) of cases, respectively. Among the 10 fetuses with trisomy 21, 6 were isolated, 4 were associated with soft markers, 2 were associated with fetal growth restriction and 1 was associated with hydrops fetalis. Cardiac anomalies were not observed in any of these fetuses. CONCLUSION: The prenatal diagnosis of ARSA should prompt meticulous anatomic survey, and karyotype analysis might be offered even in the absence of associated findings.

Prenatal diagnosis of a liver cavernous hemangioma.

Liver tumors seldom occur in the perinatal period. Hepatic hemangiomas are the most common tumors of the liver diagnosed during fetal and neonatal life. The diagnosis can be suspected antenatally by ultrasound and MR scan. The differential diagnosis is often challenging. While small hepatic hemangiomas are usually asymptomatic, large tumors can lead to complications such as high-output congestive heart failure, consumptive thrombocytopenic coagulopathy and hemorrhage after tumor rupture. We describe a case of hepatic hemangioma presenting as a solid abdominal mass with several cystic areas on an obstetric ultrasound and report on the contribition fetal MR imaging to the diagnosis.

Successful pregnancy after presurgical uterine artery embolization in the management of a very large cervical myoma: A case report.

Although fibroids are the most common benign tumors of the uterus in women of reproductive age, cervical fibroids are rarely seen. Since cervical fibroids are located deep in the pelvis, the incidence of complications in surgery is high. Among these complications bleeding is the most common, due to poor access to myoma, difficulty in suturing and repair, and distortion of vital neighboring structures. Each case should be managed individually to minimize bleeding. To decrease bleeding in patients who wish to retain their fertility, intraoperative interventions include vasoconstrictors such as vasopressin and adrenaline, uterotonics such as oxytocin, misoprostol or ergometrines, uterine artery clamping, internal iliac artery balloon occlusion catheters, and tourniquets; preoperative interventions include gonadotropin releasing-hormone analogues and uterine artery embolization. We present a case of a 40-year-old woman who had a large cervical myoma and a desire for future fertility. To overcome technical difficulties and reduce intraoperative bleeding during myomectomy, presurgical uterine artery embolization was performed. The patient conceived spontaneously after the operation and a healthy baby was delivered by cesarean section.

Effects of Hormone Replacement Therapy on Low Bone Mineral Density in Adolescents and Young Women with Hypogonadism: Comparison of Oral and Transdermal 17 Beta-Estradiol Administration.

STUDY OBJECTIVE: To evaluate the effects of physiological dose 17 beta-estradiol (E2) replacement on low bone mineral density (BMD) and compare the results of oral and transdermal (TD) E2 administration in adolescents and young women with hypogonadism DESIGN, SETTING, AND PARTICIPANTS: We retrospectively reviewed the medical records of patients aged 15 to 24 years who were diagnosed with hypogonadism, who had begun receiving oral or TD E2 replacement, and whose initial dual-energy X-ray absorptiometry scan detected a lumbar spine BMD Z-score of -1 or lower between 2014 and 2018. The patients were divided into 2 groups according to the E2 route of administration as those who received 2 mg orally (Group 1) and 0.1 mg TD (Group 2). INTERVENTIONS: None MAIN OUTCOME MEASURE: BMD scans of the patients at baseline and repeated within 2 years after E2 replacement RESULTS: In total, 43 patients who met the inclusion criteria were included in the study. Two groups did not differ for BMD scores at baseline. A significant improvement in BMD was observed with physiological dose E2 replacement in both groups. Mean BMD Z-score increased by +0.7 (95% CI, 0.47-0.93) in response to TD E2 administration, compared with +0.41 (95% CI, 0.25-0.58) during oral E2 replacement (P = .037). CONCLUSION: We conclude that physiological dose E2 replacement, even within a short period of 2 years, has a significant beneficial effect on bone mass acquisition on the lumbar spine. Our study also demonstrates the possible superiority of TD E2 replacement over the oral route in increasing lumbar spine BMD.

Idiopathic primary ovarian insufficiency is associated with anogenital distance, a marker for prenatal environment.

OBJECTIVE: In a significant number of women diagnosed with primary ovarian insufficiency (POI), the underlying cause cannot be found. On the other hand, the ovarian reserve set prenatally has been shown to be affected by intrauterine nutrition, environmental and hormonal factors. We aimed to evaluate the relationship between anogenital distance (AGD), which is considered as a biomarker for prenatal hormonal environment, and idiopathic POI in adolescents and young women. STUDY DESIGN: This case control study was conducted between September 2018 and December 2019. The study group consisted of patients between the ages of 15-30, who developed POI following menarche without any identified genetic or iatrogenic cause. Controls were patients of the same age range who were having regular menstrual periods and were not diagnosed with polycystic ovary syndrome or endometriosis. Patients were excluded from the study if they were pregnant, had vaginal delivery or genital surgery. Distance between the anterior clitoral surface and the upper verge of the anus (AGDAC), and between the posterior fourchette and the upper verge of the anus (AGDAF) were measured in all subjects. RESULTS: In total, 37 POI patients and 44 controls were included in the study. Two groups were similar for demographic parameters such as age and body mass index (BMI). Shorter AGDAC and AGDAF measurements were found to be associated with idiopathic POI. CONCLUSION: Our results provide the first evidence of a strong association between shorter AGD measurements and the presence of idiopathic POI suggesting that prenatal environment may have role in the development of POI.

Childhood Rhabdomyosarcoma of the Female Genital Tract: Association with Pathogenic DICER1 Variation, Clinicopathological Features, and Outcomes.

STUDY OBJECTIVE: Rhabdomyosarcomas (RMSs) of the female genital tract (FGT) have been recently shown to be associated with germline pathogenic variation in DICER1, which can underlie a tumor predisposition disorder. We sought to determine the incidence of a pathogenic variation in DICER1 in a cohort of RMSs of the FGT, as well as to evaluate the clinicopathological features and outcomes of the patients. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: We retrospectively reviewed medical records of the patients diagnosed with RMS of the FGT between 1990 and 2019. Molecular genetic sequencing of the tumor to detect an RNase IIIb domain hot spot mutation in DICER1 samples was performed in 7 patients. Individuals with a missense mutation in the tumor were also screened for a loss of function germline mutation in DICER1. RESULTS: Of 210 cases of pediatric RMS, 11 arose from the FGT. Molecular genetic sequencing of the tumor samples revealed a somatic missense mutation in the RNase IIIb domain of DICER1 in a total of 3 patients, 2 patients with embryonal RMS of the cervix/uterus, and 1 patient with ovarian embryonal RMS. As a result of genetic testing for the loss of function germline mutation in DICER1, a heterozygous pathogenic variant was also found in 2 of these patients. CONCLUSION: Despite the limited number of patients, our findings suggest that it is important to be aware of the possible association between RMS of FGT and pathogenic germline DICER1 variants because the detection of this mutation in a patient or relatives can provide the opportunity for surveillance of related conditions that might improve long-term outcomes and survival.