We report a rare case of primary nodal, poorly differentiated endometrioid carcinoma associated with Lynch syndrome. A 29-year-old female patient was referred by her general gynecologist for further imaging with suspected right-sided ovarian endometrioid cyst. Ultrasound examination by an expert gynecological sonographer at tertiary center revealed unremarkable findings in the abdomen and pelvis apart from three iliac lymph nodes showing signs of malignant infiltration in the right obturator fossa and two lesions in the 4b segment of the liver. During the same appointment ultrasound guided tru-cut biopsy was performed to differentiate hematological malignancy from carcinomatous lymph node infiltration. Based on the histological findings of endometrioid carcinoma from lymph node biopsy, primary debulking surgery including hysterectomy and salpingo-oophorectomy was performed. Endometrioid carcinoma was confirmed only in the three lymph nodes suspected on the expert scan and primary nodal origin of endometroid carcinoma developed from ectopic Müllerian tissue was considered. As a part of the pathological examination immunohistochemistry analysis for mismatch repair protein (MMR) expression was done. The findings of deficient mismatch repair proteins (dMMR) led to additional genetic testing, which revealed deletion of the entire EPCAM gene up to exon 1-8 of the MSH2 gene. This was unexpected considering her insignificant family history of cancer. We discuss the diagnostic work-up for patients presenting with metastatic lymph node infiltration by cancer of unknown primary and possible reasons for malignant lymph node transformation associated with Lynch syndrome.

Objectives: This study aimed to evaluate elastography features of deep infiltrating endometriosis (DIE), and to define whether this technique may discriminate lesions from surrounding non-endometriotic tissue. Methods: This was an exploratory observational study on women affected by DIE treated in a third-level academic hospital gynaecology outpatient facility between 2020 and 2021. Strain elastography (SE) was conducted via transvaginal probe. Tissue deformation of DIE and surrounding tissue was expressed as percentage tissue deformation or as subjective colour score (CS; from blue=stiff to red=soft, assigned numerical values from 0 to 3). Ratios of normal tissue/DIE were compared to ratio of normal tissue/stiffer normal tissue area. Results: Evaluations were performed on 46 DIE nodules and surrounding tissue of the uterosacral ligaments (n=21), parametrium (n=7), rectum (n=14), and recto-vaginal septum (n =4). Irrespective of location, DIE strain ratio (3.09, IQR 2.38–4.14 vs. 1.25, IQR 1.11–1.48; p<0.001) and CS ratio (4.62, IQR 3.83–6.94 vs. 1.13, IQR 1.06–1.29; p<0.001) was significantly higher than that of normal tissue. ROC AUC of CS ratio was higher than ROC AUC of strain ratio (99.76%, CI.95 99.26–100% vs. 91.35%, CI.95 85.23–97.47%; p=0.007), and best ROC threshold for CS ratio was 1.82, with a sensitivity of 97.83% (CI.95 93.48–100%) and a specificity of 100% (CI.95 100-100%). Conclusions: Both strain and CS ratios accurately distinguish DIE nodules at various locations. Applications of elastography in improving the diagnosis DIE, in distinguishing different DIE lesions and in monitoring DIE evolution can be envisioned and are worthy of further evaluation.

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ObjectiveTo describe the clinical and sonographic characteristics of benign, retroperitoneal, pelvic peripheral nerve sheath tumors (PNST).MethodsThis was a retrospective, single, gynecologic oncology center study conducted between 1 January 2018 and 31 August 2022. All ultrasound images, clips, and final specimens of benign PNSTs were reviewed by the authors to describe (1) the ultrasound appearance of the tumors using the terminology of the International Ovarian Tumor Analysis (IOTA), Morphological Uterus Sonographic Assessment (MUSA) and Vulvar International Tumor Analysis (VITA) groups on a predefined ultrasound assessment form, (2) the origin of the tumors in relation to nerves and pelvic anatomy, and (3) the correlation between ultrasound features and histotopograms. A review of literature on benign, retroperitoneal, pelvic PNSTs with preoperative ultrasound examination was performed.ResultsFive women (mean age 53 years) with benign, retroperitoneal, pelvic PNSTs were identified: four with schwannomas and one with a neurofibroma, all of which were sporadic and solitary. All patients had good quality ultrasound images and clips and final biopsies of surgically excised tumors, except for one patient managed conservatively with a tru‐cut biopsy. In four of these cases, the findings were incidental. Size range for the five PNSTs was from 31‐50 mm. All five PNSTs were solid, moderately vascular tumors, with non‐uniform echogenicity, well‐circumscribed by hyperechogenic epineurium, and had no acoustic shadowing. Most of the masses were round (n = 4 (80%)), and contained small, irregular, anechoic, cystic spaces (n = 3 (60%)), and hyperechoic areas (n = 4 (80%)). A literature search identified 47 cases of retroperitoneal schwannomas and neurofibromas, the characteristics of which were compared with the cases in our series.ConclusionsOn ultrasound, benign PNSTs were solid, non‐uniform, moderately vascular tumors without acoustic shadowing. Most were round, containing small, irregular, anechoic, cystic spaces, and hyperechoic areas, consistent with degenerative changes on pathology. All tumors were well‐circumscribed by a hyperechogenic rim composed of epineurium. No imaging characteristics reliably differentiated between schwannomas and neurofibromas. In fact, they overlap with the ultrasound appearance of malignant tumors. Hence, ultrasound‐guided biopsy plays a pivotal role in diagnosis, and if confirmed as benign PNSTs, these tumors can undergo ultrasound surveillance.This article is protected by copyright. All rights reserved.