Most affected SMA fetuses have normal NT values. Our findings support the idea that SMN2 copy number in SMA fetuses is relevant for the development of congenital heart defects and increased NT values.
Objective To describe the clinical and sonographic characteristics of extragastrointestinal stromal tumors (eGISTs). Methods This was a retrospective multicenter study. The data of patients with a histological diagnosis of eGIST who had undergone preoperative ultrasound examination were retrieved from the databases of nine large European gynecologic oncology centers. One investigator from each center reviewed stored images and ultrasound reports, and described the lesions using the terminology of the International Ovarian Tumor Analysis and Morphological Uterus Sonographic Assessment groups, following a predefined ultrasound evaluation form. Clinical, surgical and pathological information was also recorded. Results Thirty‐five women with an eGIST were identified; in 17 cases, the findings were incidental, and 18 cases were symptomatic. Median age was 57 years (range, 21–85 years). Tumor marker CA 125 was available in 23 (65.7%) patients, with a median level of 23 U/mL (range, 7–403 U/mL). The vast majority of eGISTs were intraperitoneal lesions (n = 32 (91.4%)); the remaining lesions were retroperitoneal (n = 2 (5.7%)) or preperitoneal (n = 1 (2.9%)). The most common site of the tumor was the abdomen (n = 23 (65.7%)), and less frequently the pelvis (n = 12 (34.3%)). eGISTs were typically large (median largest diameter, 79 mm) solid (n = 31 (88.6%)) tumors, and were less frequently multilocular‐solid tumors (n = 4 (11.4%)). The echogenicity of solid tumors was uniform in 8/31 (25.8%) cases, which were all hypoechogenic. Twenty‐three solid eGISTs were non‐uniform, either with mixed echogenicity (9/23 (39.1%)) or with cystic areas (14/23 (60.9%)). The tumor shape was mainly lobular (n = 19 (54.3%)) or irregular (n = 10 (28.6%)). Tumors were typically richly vascularized (color score of 3 or 4, n = 31 (88.6%)) with no shadowing (n = 31 (88.6%)). Based on pattern recognition, eGISTs were usually correctly classified as a malignant lesion in the ultrasound reports (n = 32 (91.4%)), and the specific diagnosis of eGIST was the most frequent differential diagnosis (n = 16 (45.7%)), followed by primary ovarian cancer (n = 5 (14.3%)), lymphoma (n = 2 (5.7%)) and pedunculated uterine fibroid (n = 2 (5.7%)). Conclusions On ultrasound, eGISTs were usually solid, non‐uniform pelvic or abdominal lobular tumors of mixed echogenicity, with or without cystic areas, with rich vascularization and no shadowing. The presence of a tumor with these features, without connection to the bowel wall, and not originating from the uterus or adnexa, is highly suspicious for eGIST. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.
Oral communication abstracts OC04: CHARACTERISING OVARIAN PATHOLOGY OC04.01 Ultrasound features of mucinous ovarian tumors
Electronic poster abstractsearly pregnancy, a left ovarian mass was incidentally detected at another department, which was considered to be a dermoid cyst. On admission we performed a pelvic ultrasound examination, which demonstrated a multicystic ovarian mass with low-impedance circulation, which structure was typical for ovarian cancer. Pelvic magnetic resonance imaging (MRI) showed a bizarre mass in the left ovary, whose morphology and structure raised the suspicion of malignancy.Supporting information can be found in the online version of this abstract EP25.03 Ultrasound features of a jejunal adenocarcinoma with ovarian metastasis: a case report B. Grandal, L. Blanch, N. Rams Obstetrics and Gynecology, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainThere are difficulties in differentiating between primary and secondary ovarian cancer.The ovary is a common site of dissemination from malignant tumours; 5 to 20% of ovarian masses are metastases from primary tumours in other organs, most originated from the gastrointestinal tract or the breast. Ovarian metastases of jejunal adenocarcinoma are a rare phenomenon and information on them is very limited.A 39-year-old woman with unremarkable past medical history was consulted for abdominal pain and dyspareunia. The pelvic examination revealed an increase in size of both ovaries. The transvaginal ultrasound showed solid multilocular cysts with anechoic fluid in both ovaries, colour score of 3, measurements 59x65x119 mm and 82x44x73 mm respectively, and no ascites. Serum levels of Ca 125, HE-4, LDH and CEA were elevated. Computed tomography revealed solid-cystic tumours in the pelvis and some images suspicious for hepatic dissemination and peritoneal implants. A diagnostic laparotomy for presumed primary ovarian cancer revealed a tumour in the jejunum compatible with adenocarcinoma and metastases in the epiplon, peritoneum, ovaries and liver. Conclusion: We present a case of a metastatic ovarian tumour from a primary small bowel adenocarcinoma, which is extremely rare. Review of the literature reveals less than 10 reported cases. Preoperative differentiation of primary and metastatic ovarian tumours is difficult. Testa et al. reported sonographic morphology pertaining to the origin of the primary tumour. As jejunum tumours are hardly frequent, it is impossible to develop a pattern-recognition for jejunal-to-ovary adenocarcinoma metastases. The ultrasound characteristics of our case are similar to those described in the ovarian metastases deriving from the colon, rectum, appendix and biliary tract. Ultrasonography is often chosen as a first-line imaging modality to investigate patients presenting with pelvic complaints based on its demonstrated safety and effectiveness for decades. On occasion, findings may not align with traditional gynecologic etiologies and in these instances, rare conditions should be entertained as possible diagnoses. Adjunct imaging modalities may be necessary to investigate sonographic findings further. This case series highlights two rare...
Objectives:The aim was to assess the clinical usefulness and diagnostic performance by additional measurement of CA 125 in combination with ultrasound findings for preoperative assessment of adnexal masses. Methods: This was a retrospective study assessing 215 adnexal masses in 215 women pre-and postmenopausal over a 24-month period in Gynecological Oncology Unit. Seventy-three (34%) women were premenopausal and 142 (66%) women were premenopausal. Patients were evaluated with transvaginal ultrasound according to the Gynecologic Imaging Report and Data System (GI-RADS) classification. Serum concentration of CA 125 was measured before surgical procedure. The definitive diagnosis was confirmed by pathological examination of the excised lesions. Ovarian cancer is the fifth more common type of cancer in women and the forth cause of cancer death in women. Gynecological ultrasound is one of the main investigation methods that allows the identification and detailed description of pelvic adnexal masses at first, because of its potential in reconstructing highly definitive images and its simple application, although it is an extremely operator dependent technique.A 67 year old woman was referred to our gynecological consultation because of lower abdominal pain and a suspected right ovarian cancer.By transvaginal ultrasound and Colour Doppler imaging a solid mass in the retrouterine area was found, dimension of 78x44x40mm, adherent to the posterior face of the uterus and to the right ovarium. Part of the mass, 4 cm diameter, was seen to be intensely vascularised; the remaining part wasn't and it was suspected to be a fecaloma. It was evaluated through the IOTA international scale. The ultrasound examination showed a positive sliding sign. The vascularised mass was indeed suspected to be originating from the lower part of the bowel, the inner layer of the sigma. The mass had been surgically resected, as well as the anterior part of the rectum and the uterus with the adnexals on both sides. The diagnosis was of lower bowel Adenocarcinoma, poorly differentiated, G3, and ulcerate.Transvaginal ultrasound and Colour Doppler allow detailed study of the pelvic organs and both play a central role in differential diagnosis of pelvic undifferentiated masses. Moreover, it provides proper and accurate tools for surgical pre operation evaluation.Supporting information can be found in the online version of this abstract Hormone-producing malignancies are rare in children or adolescent patients: Only 0.1% of all ovarian tumours and 45% of granulosa cell tumours occur in the sexually non-active ages. Granulosa cell tumours (GCTs) are sex cord-stromal tumours of the ovary, representing 78% of all ovarian neoplasms. A total of 95% of all GCTs are adult-type, and only 5% are diagnosed as juvenile-type GCT. A majority of children with juvenile-type GCT present with isosexual precocious pseudopuberty due to excessive estrogen production, although virilising, testosterone-producing, juvenile-type GCTs are rare, occurring only in 2% of cases. We ...
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