Targeted RNA Sequencing Highlights a Diverse Genomic and Morphologic Landscape in Low-grade Endometrial Stromal Sarcoma, Including Novel Fusion Genes.

Low-grade endometrial stromal sarcoma (LGESS) represents a morphologically and genetically heterogenous mesenchymal neoplasm. Previous work has shown that approximately half of LGESS are characterized by JAZF1::SUZ12 gene fusions, while a smaller proportion involves rearrangement of other genes. However, a subset of cases has no known genetic abnormalities. To better characterize the genomic landscape of LGESS, we interrogated a cohort with targeted RNA sequencing (RNA-Seq). Cases previously diagnosed as low-grade endometrial stromal neoplasia (n=51) were identified and re-reviewed for morphology and subjected to RNA-Seq, of which 47 were successfully sequenced. The median patient age was 49 years (range: 19 to 85). The most commonly detected fusions were JAZF1::SUZ12 (n=26, 55%) and BRD8::PHF1 (n=3, 6%). In addition to the usual/typical LGESS morphology, some JAZF1::SUZ12 fusion tumors showed other morphologies, including fibrous, smooth muscle, sex-cord differentiation, and myxoid change. Novel translocations were identified in 2 cases: MEAF6::PTGR2 and HCFC1::PHF1 . Ten tumors (21%) had no identifiable fusion, despite a similar morphology and immunophenotype to fusion-positive cases. This suggests that a subset of cases may be attributable to fusion products among genes that are not covered by the assay, or perhaps altogether different molecular mechanisms. In all, these findings confirm that RNA-Seq is a potentially useful ancillary test in the diagnosis of endometrial stromal neoplasms and highlight their diverse morphology.

Treatment of rectosigmoid endometriosis by laparoscopic reverse submucosal dissection (LRSD): The Sydney partial thickness discoid excision technique.

BACKGROUND: Laparoscopic reverse submucosal dissection (LRSD) is a standardised surgical technique for removal of rectosigmoid endometriosis which optimises the anatomical dissection plane for excision of endometriotic nodules. AIM: This cohort study assesses the outcomes of the first cohort of women treated by LRSD, for deeply infiltrating rectosigmoid endometriosis. MATERIALS AND METHODS: Primary outcomes assessed were complication rate as defined by the Clavien-Dindo system, and completion of the planned LRSD. Secondary outcomes include mucosal breach, specimen margin involvement, length of hospital admission, and a comparison of pre-operative and post-operative pain, bowel function and quality of life surveys. These included the Endometriosis Health Profile Questionnaire (EHP-30), the Knowles-Eccersley-Scott Symptom Questionnaire (KESS) and the Wexner scale. RESULTS: Of 19 patients treated, one required a segmental resection. The median length of hospital admission was two days (range 1-5) and no post-operative complications occurred. Median pain visual analogue scales (scale 0-10) were higher prior to surgery (dysmenorrhoea 9.0, dyspareunia 7.5, dyschezia 9.0, pelvic pain 6.0) compared to post-surgical median scores (dysmenorrhoea 5.0, dyspareunia 4.0, dyschezia 2.0, pelvic pain 4.0) at a median of six months (range 4-32). Quality of life studies suggested improvement following surgery with pre-operative median EHP-30 and KESS scores (EHP-30: 85 (5-106), KESS score 9 (0-20)) higher than post-operative scores (EHP-30: 48.5 (0-80), KESS score: 3 (0-19)). CONCLUSION: This series highlights the feasibility of LRSD with low associated morbidity as a progression of partial thickness discoid excision (rectal shaving) for the treatment of rectosigmoid deep infiltrating endometriosis.

Close margin alone does not warrant postoperative adjuvant radiotherapy in oral squamous cell carcinoma.

BACKGROUND: There are major variations between institutions regarding postoperative adjuvant therapy for adverse features in patients with oral squamous cell carcinoma (SCC). The authors' practice has been to not recommend any adjuvant therapy on the basis of close (<5 mm but uninvolved) margins unless there are additional adverse features. The primary objective of this study was to assess whether the local control achieved in this patient cohort was acceptable. METHODS: In this single-institution, retrospective analysis, local control was the primary endpoint, and disease-specific survival (DSS) was the secondary endpoint. Differences in survival were determined using the log-rank test, and survival curves were generated using the Kaplan-Meier method. RESULTS: One hundred forty-four patients (79 men and 65 women; median age, 64.1 years; mean follow-up, 3.3 years) underwent surgery alone for oral SCC with curative intent and were recorded as having close tumor margins on histology. The local control rate for all patients who underwent surgery alone was 91% (95% confidence interval, 81.9%-95.2%), and the DSS rate was 84% (95% confidence interval, 74.0%-89.9%) at 5 years. There was no pattern of worse local control or DSS rates with the ordered stratification of close margins. The 5-year local control rates for having 0, 1, 2, and 3 additional adverse features were 100%, 96%, 83%, and 71%, respectively (P = .004; trend test). CONCLUSIONS: Surgery alone without postoperative adjuvant therapy offered acceptable local control in patients who had close margin status as their only adverse feature and may be reasonable in the presence of 1 other adverse clinicopathologic feature.