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Objective: Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) and SMARCA4-deficient undifferentiated uterine sarcoma (SMARCA4-DUS) are rare and aggressive tumors, primarily affecting pre- and perimenopausal women. Inactivating SMARCA4 mutations are thought to be the driving molecular events in the majority of these tumors. Here, we report the clinical course of a family with germline SMARCA4 mutation and compare large cohorts of these rare tumor types., Methods: We extracted clinico-pathological medical record data for the family with germline SMARCA4 mutation. Clinico-genomic data from SCCOHT and SMARCA4-DUS cohorts were retrospectively extracted from the archives of a large CLIA-certified reference molecular laboratory., Results: We identified a single family with an inherited germline SMARCA4 mutation, in which two different family members developed either SCCOHT or SMARCA4-DUS, both of whom died within one year of diagnosis, despite aggressive surgical, chemotherapy and immunotherapy treatment. Retrospective comparative analysis of large SCCOHT (n = 48) and SMARCA4-DUS (n = 17) cohorts revealed that SCCOHT patients were younger (median age: 28.5 vs. 49.0) and more likely to have germline SMARCA4 alterations (37.5% vs. 11.8%) than SMARCA4-DUS patients., Conclusions: Growing understanding of the role SMARCA4 plays in the pathogenesis of these rare cancers may inform recommended genetic testing and counseling in families with these tumor types., Competing Interests: Declaration of competing interest DIL is a full-time employee of Foundation Medicine, Inc, which is a whole subsidiary of Roche., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objective: To describe the clinical characteristics of patients with endosalpingiosis (ES) and examine its association with endometriosis and gynecologic malignancies., Methods: We queried the medical record for patients who underwent gynecologic surgery (Gynecologic Surgery Cohort (GSC), n=58,161) from 1998 to 2013 at a single institution for the presence of "endosalpingiosis" (ES). Demographic and clinical characteristics were collected for patients with pathologically confirmed ES (n=838). Within GSC, we compared the frequency of endometriosis and gynecologic malignancies with and without ES. We estimated the expected distribution of ovarian cancer subtypes using cases from the New England Case Control Study (NECC). We used chi-square tests to test for significant differences in frequency distributions and unconditional logistic regression to calculate multivariate odds ratios for the association between ES and ovarian cancer subtypes., Results: We observed concurrent endometriosis (p<0.0001), uterine cancer (p<0.0001), and ovarian cancer (p<0.0001) more frequently in women with ES. Women from the GSC with ES and ovarian cancer were more likely to have serous borderline (OR=10.2, 95% CI=5.1-20.7), clear cell (OR=3.0, 95% CI=1.1-8.0), and invasive mucinous tumors (OR=5.0, 95% CI=1.5-16.6) as compared to ovarian cancer cases from the NECC without ES, after accounting for age, race, menopausal status, parity, tubal ligation, and endometriosis., Conclusion: Women with ES are more likely to also be diagnosed with endometriosis, uterine, and ovarian cancers. Further study is needed to understand these associations so we may appropriately counsel patients with ES diagnosed at time of gynecologic surgery., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Study Objective: To assess the sensitivity of preoperative endometrial biopsy in detection of uterine leiomyosarcoma (ULMS)., Study Design: Retrospective analysis of a prospectively collected database (Canadian Task Force III)., Setting: Two academic tertiary referral centers., Patients: All cases of ULMS treated at participating institutions between January 2005 and August 2012 were identified following IRB approval., Interventions: Abstracted data included demographics, preoperative evaluation, presenting symptom, surgical management, pathology and clinical outcomes. Chi-square tests were used for statistical analysis., Measurements and Main Results: 329 cases were identified, of which 152 cases had complete pathologic data available for review. Sixty-eight (45%) of 152 patients had endometrial sampling prior to surgery. Patients with postmenopausal bleeding were significantly more likely to be biopsied preoperatively (51.6% vs 9.5%, p = <.0001). Of those sampled, 43 (63%) underwent endometrial pipelle biopsies and 25 (37%) had dilation and curettage. Endometrial sampling was significantly more likely to detect a concern for malignancy in patients who presented with postmenopausal bleeding (72.7% vs 32.3%, p = 0.002), however it was less likely to detect malignancy in patients with abnormal premenopausal bleeding (31.8% vs 64.3%, p = .02), compared to other presenting symptoms. Overall, 51.5% of patients with ULMS on final pathology had preoperative endometrial biopsies in which leiomyosarcoma or atypical spindle cell proliferation were diagnosed, whereas 35.5% of the pre-operative biopsies identified ULMS specifically., Conclusions: The sensitivity of an endometrial biopsy to detect ULMS is low, illustrating the difficulty of diagnosing ULMS preoperatively. As expected, the probability that an endometrial biopsy will detect ULMS or a related worrisome pathological finding is higher for patients with post-menopausal bleeding. Thus, benign endometrial biopsy results, particularly in pre-menopausal patients, should be interpreted with caution if there is suspicion for leiomyosarcoma. However, a positive or suspicious result can play an important role in the subsequent management of patients with ULMS, even if the absolute numbers of affected patients are small., (Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.)

We describe the case of an 81-yr-old woman who presented with bilateral pulmonary nodules in the setting of a large uterine mass, concerning for a gynecologic malignancy such as leiomyosarcoma. However, fine-needle aspiration of a lung nodule revealed a spindle cell neoplasm consistent with solitary fibrous tumor (SFT), a rare mesenchymal neoplasm characterized by a patternless architecture of spindle cells and branching ectatic vessels. Total abdominal hysterectomy demonstrated a primary SFT of the uterus. Both the lung lesion and uterine mass were positive for STAT6, a sensitive and specific biomarker for SFT. SFT infrequently metastasizes and only rarely occurs in the uterus. These tumors are considered to have uncertain malignant potential, and the diagnosis of "malignant" SFT requires the presence of >4 mitoses per 10 high-power fields. The uterine SFT we report did not meet this criterion for malignancy, emphasizing that this entity can behave aggressively even without increased mitoses or atypical histology. To our knowledge, this is the first reported case of a uterine SFT with metastasis to the lung. We discuss the differential diagnosis for the finding of multiple pulmonary spindle cell lesions in the setting of a uterine mass.

Objective: To examine hysterectomies in the United States performed for gynecologic malignancies and identify factors associated with the use of minimally invasive techniques., Methods: This is a cross-sectional analysis of the 2012 National Inpatient Sample, the largest national all-payer database of hospital discharges. International Classification of Diseases, 9th Revision, Clinical Modification codes for any type of hysterectomy performed for gynecologic malignancy were used to abstract pertinent observations. Weighted multivariable logistic regression models were used to examine the associations between demographic and clinical factors and mode of hysterectomy by cancer diagnosis., Results: In 2012, there were an estimated 46,450 hysterectomies for gynecologic malignancy in the United States. Of these, 28,285 (61%) were performed for uterine, 4,275 (9%) for cervical, 12,370 (27%) for ovarian cancer, and 1,520 (3%) for other gynecologic malignancies. Minimally invasive hysterectomy was used in 50% of uterine, 43% of cervical, and 8.5% of ovarian cancer cases. Black women had decreased odds of undergoing minimally invasive hysterectomy for uterine (adjusted odds ratio [OR] 0.50, 95% confidence interval [CI] 0.40-0.0.63, P<.001) and cervical (adjusted OR 0.56, 95% CI 0.33-0.96, P=.03) cancers. Those without insurance or with Medicaid had decreased odds of undergoing minimally invasive hysterectomy (P<.001) for uterine cancer. As compared with the Northeast, patients in the South (adjusted OR 0.72, 95% CI 0.53-0.98, P=.04) were less likely to undergo minimally invasive hysterectomy for uterine cancer, whereas those in the West more likely (adjusted OR 1.48, 95% CI 1.10-1.99, P=.009)., Conclusion: Minimally invasive hysterectomy for gynecologic malignancies remained underused in 2012; there were striking racial disparities associated with use of minimally invasive hysterectomy for uterine and cervical cancers., Level of Evidence: III.