Transvaginal sonography with vs without bowel preparation in diagnosis of rectosigmoid endometriosis: prospective study.

OBJECTIVES: The primary aim of this study was to compare the diagnostic accuracy of transvaginal sonography (TVS) with vs without bowel preparation (BP) in detecting the presence of rectosigmoid endometriosis. Secondary objectives were to compare the diagnostic accuracy of the two techniques in estimating infiltration of the submucosa, length of the largest rectosigmoid nodules, distance of the nodules from the anal verge and presence of multifocal disease. METHODS: This was a prospective study of patients with symptoms of pelvic pain for more than 6 months and/or suspicion of endometriosis referred to our institution between October 2016 and April 2018. Participants underwent a first TVS without BP followed by TVS with BP within a time interval of 1 week to 3 months. The examinations were performed independently and blindly by two sonographers. Only patients who underwent laparoscopy within the 6 months following the second ultrasound examination were included. Ultrasound results using the two techniques were compared with surgical and histological findings. RESULTS: Of the 262 patients included in the study, 118 had rectosigmoid endometriosis confirmed at surgery. There was no significant difference in accuracy between TVS with and that without BP in diagnosing the presence of rectosigmoid endometriosis (93.5% vs 92.3%; P = 0.453). No significant difference was observed in accuracy between TVS with and that without BP in diagnosing submucosal infiltration (88.8% vs 84.6%; P = 0.238) and multifocal disease (97.2% vs 95.2%; P = 0.727) in patients diagnosed sonographically with rectosigmoid endometriosis. The accuracy of TVS with BP was similar to that of TVS without BP in estimating the maximum diameter of the largest nodule (P = 0.644) and the distance between the more caudal rectosigmoid nodule and the anal verge (P = 0.162). CONCLUSION: BP does not improve the diagnostic performance of TVS in detecting rectosigmoid endometriosis and in assessing characteristics of endometriotic nodules. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Influence of adenomyosis on pregnancy and perinatal outcomes in women with endometriosis.

OBJECTIVES: Several studies have investigated the correlation between endometriosis and adverse pregnancy and perinatal outcomes. However, the role of adenomyosis as a risk factor for adverse perinatal outcome in women with endometriosis has yet to be established. The aim of this study was to explore if fetal and maternal outcomes, in particular the incidence of a small-for-gestational-age (SGA) infant, are different in pregnant women with endometriosis only from in those with the concomitant presence of diffuse or focal adenomyosis. METHODS: This was a retrospective analysis of data collected prospectively during a 3-year period. We included 206 pregnant women with endometriosis: 148 (71.8%) with endometriosis only, 38 (18.4%) with focal adenomyosis and 20 (9.7%) with diffuse adenomyosis. Adenomyosis was diagnosed using ultrasonography and was classified as focal or diffuse. The study included patients who conceived spontaneously or by an assisted reproductive technique. Demographics, ultrasound variables and outcome were compared between women with endometriosis only and those with diffuse and those with focal adenomyosis. Logistic regression analysis was performed to assess the association of variables with SGA at birth in women with diffuse and those with focal adenomyosis. RESULTS: The three groups were similar in demographic characteristics (age, body mass index, mode of conception). Patients with diffuse adenomyosis compared with those with endometriosis only had significantly lower pregnancy-associated plasma protein A (0.61 vs 0.88 multiple of the median, P < 0.001), higher mean uterine artery pulsatility index in the first (2.23 vs 1.67, P < 0.001) and second (1.30 vs 0.94, P < 0.001) trimesters of pregnancy, and higher incidence of SGA (40% vs 10.8%, P < 0.001). No statistically significant differences were found in patients with focal adenomyosis compared with those with endometriosis only. Logistic regression analysis demonstrated that diffuse adenomyosis (odds ratio = 3.744; 95% CI, 1.158-12.099; P = 0.027) was the only independent risk factor for SGA. CONCLUSIONS: The presence of diffuse adenomyosis in pregnant women with endometriosis is strongly associated with delivery of a SGA infant. Women with diffuse adenomyosis should be treated as being at high risk of placental dysfunction, and these pregnancies might therefore need closer monitoring. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

High cellularity and mitotic activity in a primary ovarian fibro-thecomatous tumor of a young patient: a diagnostic and clinical challenge.

Purpose ofInvestigation: Solid ovarian tumors represent a clinical challenge, in particular in case of young patients who require a fertility sparing treatment. The authors report a case of hypercellular mitotically active ovarian fibrothecoma in a very young woman, successfully treated with a fertility sparing surgery. MATERIALS AND METHODS: A 21-year-old nulliparous woman presented at the present hospital with a 14-cm right ovarian mass, consisting of solid and pseudo-cystic components. There was neither an elevation of tumor markers nor evidence of metastatic disease. A laparotomic right salpingo-oophorectomy was performed. Uterus and left adnexa were preserved. RESULTS: The neoplasm consisted of a prevalent population of spindle-shaped elements and of a minor component of cells with wider cytoplasms, attributable to a thecomatous differentiation. The mitotic activity was focally elevated. Cytological atypia was mild to focally moderate. Clear areas of coagulative necrosis were not observed. At present 48 months after surgery, the patient is alive with no evidence of recurrence. CONCLUSIONS: The authors reported the lesion as a hypercellular and mitotically active fibrothecoma. The uneventful follow-up confirms the low malignant potential of the lesion. Caution is required reporting hypercellular stromal ovarian tu- mors, in order to avoid overdiagnosis and overtreatment, particularly in young patients.

Virtopsy in conjoined ischiopagus twins.

PURPOSE OF INVESTIGATION: To propose a multidisciplinary protocol for postmortem disclosure of complex fetal malformations, comparing ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), and autopsy in a case of conjoined ischiopagus twins. MATERIALS AND METHODS: A screening second-trimester ultrasound diagnosed ischiopagus twins at 20 gestational weeks in a 31-year-old woman without any previous ultrasound examination. The couple decided for pregnancy termination. The formalin-fixed fetuses underwent full-body CT, MRI, and autopsy. RESULTS: ultrasound accurately diagnosed ischiopagus twins. CT was very accurate in the description of bone components. MRI allowed better visualization of the visceral organs than CT. Only autopsy could disclose the aspect of the two gastrointestinal tracts and the external genitalia. CONCLUSIONS: Prenatal ultrasound represents the standard diagnostic exam for conjoined twins. CT-MRI virtual autopsy (virtopsy) may be an option if the couple refuses to authorize necropsy or may be useful to plan a minimally invasive autopsy preserving the external phenotype.

Mixed malignant mullerian tumor with neuroendocrine features in an irradiated uterus for cervical carcinoma. A unique association? A morphological, immunohistochemisty and ultrastructural study.

Chemo-radiation represents an effective therapy for carcinoma of the uterine cervix. The endometrium may however receive a consistent dose of mutagenic radiations and patients may have an increased risk of secondary malignancies. Endometrial mixed malignant mullerian tumor (MMMT) is a rare, highly aggressive disease, and neuroendocrine features are even rarer. A 68 years old woman underwent radio-chemotherapy for a squamous cell carcinoma of the cervix. Follow up was uneventful until, eight years after radio-chemotherapy, imaging exams detected a diffuse enlargement of the uterine body. Radical hysterectomy revealed a multiphasic lesion with both sarcomatous and mixed carcinomatous components. The carcinomatous, component presented neuroendocrine histologic and ultrastuctural features and an intense expression of neuroendocrine immunohistochemistry markers. No residual cervical carcinoma was documented (pR0). The patient died of disease after 9 months. Reported cases further demonstrate how the irradiation of the uterus for cervical cancer carries a not negligible risk of developing a second endometrial cancer. The second cancer may develop years after initial therapy and may have aggressive histologic and clinical features. This case underlines the importance for a long follow-up in women having received radio-chemotherapy alone.

Computed tomographic colonography vs rectal water- contrast transvaginal sonography in diagnosis of rectosigmoid endometriosis: a pilot study.

OBJECTIVES: To compare the performance of computed tomographic colonography (CTC) and rectal water-contrast transvaginal sonography (RWC-TVS) in the diagnosis of rectosigmoid endometriosis, and compare precision in estimating the length of the rectosigmoid nodules and the distance between the nodules and the anal verge. METHODS: This prospective study included 70 patients of reproductive age with clinical suspicion of rectosigmoid endometriosis. Patients underwent RWC-TVS and CTC before laparoscopic excision of endometriotic nodules. The findings of RWC-TVS and CTC were compared with surgical and histological results. RESULTS: Of the 70 patients included in the study, 40 (57.1%) had rectosigmoid endometriosis. CTC and RWC-TVS had similar accuracy in the diagnosis of rectosigmoid endometriosis (P = 0.508) and similar precision in estimating the length of the endometriotic nodules (P = 0.077). CTC was more precise than RWC-TVS in estimating the distance between the rectosigmoid nodule and the anal verge (P < 0.001). The intensity of pain experienced during CTC was higher than that perceived during RWC-TVS (P < 0.001); however, intestinal distension for CTC was well-tolerated in all patients without significant adverse effects. CONCLUSIONS: RWC-TVS and CTC have similar accuracy in the diagnosis of rectosigmoid endometriosis and similar precision in estimating the size of the nodules; however, CTC is more precise than RWC-TVS in estimating the distance between the nodules and the anal verge, yet patients tolerate RWC-TVS better than CTC. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Magnetic resonance enema vs rectal water-contrast transvaginal sonography in diagnosis of rectosigmoid endometriosis.

OBJECTIVE: To compare the accuracy of magnetic resonance enema (MR-e) and rectal water-contrast transvaginal sonography (RWC-TVS) in the diagnosis of rectosigmoid endometriosis. METHODS: This prospective study included 286 patients of reproductive age with clinical suspicion of rectosigmoid endometriosis. Patients underwent MR-e and RWC-TVS before laparoscopic excision of endometriotic lesions. The findings of MR-e and RWC-TVS were compared with surgical and histological results. RESULTS: Of the 286 patients included in the study, 151 (52.8%) had rectosigmoid endometriosis. MR-e and RWC-TVS had similar accuracy in the diagnosis of rectosigmoid endometriosis (P = 0.063). In the diagnosis of rectosigmoid endometriosis with MR-e, the sensitivity was 95.4% (95% CI, 90.7-99.1%), specificity was 97.8% (95% CI, 93.6-99.5%), positive predictive value (PPV) was 98.0% (95% CI, 94.1-99.6%), negative predictive value (NPV) was 95.0% (95% CI, 89.9-97.9%), positive likelihood ratio (LR+) was 42.91 (95% CI, 14.01-131.46) and negative likelihood ratio (LR-) was 0.05 (95% CI, 0.02-0.10). For diagnosis with RWC-TVS, sensitivity was 92.7% (95% CI, 87.3-96.3%), specificity was 97.0% (95% CI, 92.6-99.2%), PPV was 97.2% (95% CI, 93.0-99.2%), NPV was 92.3% (95% CI, 86.6-96.1%), LR+ was 31.29 (95% CI, 11.90-82.25) and LR- was 0.08 (95% CI, 0.04-0.13). MR-e and RWC-TVS underestimated the size of the endometriotic nodules; for both imaging techniques the underestimation was greater for nodules with a diameter ≥ 30 mm. There was no significant difference in the mean intensity of pain experienced by the patients during the two examinations. CONCLUSIONS: RWC-TVS should be the first-line investigation in patients with clinical suspicion of rectosigmoid endometriosis and physicians should be trained in performing this examination. Considering that MR-e is more expensive than RWC-TVS, it should be used only when the findings of RWC-TVS are unclear. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

HPV infection in squamous cell carcinomas arising from different mucosal sites of the head and neck region. Is p16 immunohistochemistry a reliable surrogate marker?

BACKGROUND: Human papillomavirus 16 infection has been proven to be associated with oropharyngeal squamous cell carcinomas (SCCs) and is probably the main reason of the reported increase in the incidence. The role of high-risk (HR) HPV for carcinogenesis of other sites in the head and neck awaits confirmation. With the aim to evaluate the prevalence of HPV infection and the reliability of different diagnostic tools in SCCs of different sites, 109 consecutive untreated head and neck SCCs were enrolled, and fresh tumour samples collected. METHODS: Human papillomavirus DNA was detected by Digene Hybrid Capture 2 (HC2). Human papillomavirus E6 and E7 mRNA were detected by NucliSENS EasyQ HPVv1. P16 expression was evaluated by immunohistochemistry. RESULTS: In all, 12.84% of cases were infected by HR genotypes and 1.84% by low-risk genotypes. Human papillomavirus 16 accounted for 87% of HR infections. The overall agreement between DNA and RNA detection is 99.1%. Although p16 expression clearly correlates with HPV infection (P=0.0051), the inter-rater agreement is poor (k=0.27). The oropharynx showed the highest HR HPV infection rate (47.6%) and was also the only site in which p16 immunohistochemistry revealed to be a fair, but not excellent, diagnostic assay (κ=0.61). CONCLUSION: The prognostic role of HR HPV infection in oropharyngeal oncology, with its potential clinical applications, underscores the need for a consensus on the most appropriate detection methods. The present results suggest that viral mRNA detection could be the standard for fresh samples, whereas DNA detection could be routinely used in formalin-fixed, paraffin-embedded samples.