Impact of molecular genotyping on the diagnosis and treatment of human chorionic gonadotropin-producing tumors.

OBJECTIVES: To assess the use of molecular genotyping to accurately diagnose and treat human chorionic gonadotropin (hCG)-producing tumors and to evaluate the discriminating capacity of molecular testing on prognosis and overall survival. METHODS: We conducted a retrospective descriptive study of patients registered with the French Reference Center for Trophoblastic Disease between 1999 and 2021. We included all patients with hCG-producing tumors for whom results of molecular genotyping were available. RESULTS: Fifty-five patients with molecular genotyping were included: 81.2 % (n = 45) had tumors of gestational origin, 12.7 % (n = 7) of non-gestational origin and 5.5 % (n = 3) of undetermined origin. The results of molecular genotyping influenced the treatment decisions for 17 % of patients in this cohort. Overall survival was 93.3 % for patients with gestational tumors (after a median follow-up of 74 months) compared to 71.4 % for patients with non-gestational tumors (after a median follow-up of 23 months). CONCLUSION: In atypical presentations of hCG-producing tumors, molecular genotyping is a valuable tool to guide diagnosis and tailor treatment recommendations.

Non-invasive high-intensity focused ultrasound treatment of the placenta: a preliminary in-vivo study using a simian model.

OBJECTIVE: To demonstrate the feasibility and efficacy of high-intensity focused ultrasound (HIFU) for the non-invasive creation of placental lesions in a simian model. METHODS: Eight pregnant monkeys were exposed to HIFU treatment after anesthesia, using a toroidal HIFU 2.5-MHz transducer with an integrated ultrasound imaging probe. Lesions on the placental tissue were created non-invasively by placing the HIFU probe on the skin surface. Fetal and maternal parameters, such as maternal heart rate, fetal heart rate and subcutaneous and intra-amniotic fluid temperature, were recorded during HIFU exposure. Cesarean section was performed immediately after the procedure to extract the placenta and examine the fetus and the maternal abdominal cavity. Placental HIFU lesions were assessed by ultrasound, gross pathology and histology. RESULTS: The mean gestational age of the monkeys was 72 ± 4 days. In total, 13 HIFU procedures were performed. The acoustic power and exposure time were increased progressively. This gradual increase in total energy delivered was used to determine a set of parameters to create reproducible lesions in the placenta without complications. Five placental lesions were observed with average diameters of 6.4 ± 0.5 mm and 7.8 ± 0.7 mm and an average depth of 3.8 ± 1.5 mm. Ultrasound examination of the placentae revealed hyperechoic regions that correlated well with macroscopic analysis of the HIFU lesions. Necrosis of placental tissue exposed to HIFU was confirmed with macroscopic and microscopic analysis. There was no significant variation in maternal and fetal parameters during HIFU exposure. CONCLUSIONS: This study demonstrates the feasibility of HIFU applied non-invasively to the placental unit in an in-vivo pregnant monkey model. The technique is safe in the immediate short term and is potentially translatable to human pregnancy. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

[Uterine rupture plugged by omentum in a rudimentary horn pregnancy: About a rare case]. / Rupture utérine colmatée par l'épiploon sur grossesse développée au dépend d'une corne utérine rudimentaire : à propos d'un cas rare.

Pregnancy in a rudimentary horn of a pseudo-horned uterus is a rare obstetrical situation, for which, maternal-fetal prognosis is altered by the risk of uterine rupture. We report a rare case of pregnancy in a rudimentary horn with birth of a living child at 28 weeks of amenorrhea. During caesarean, uterine rupture plugged by the omentum was observed. We discuss from this case obstetric management of this pathology.

[Intra-uterine growth restriction impact on maternal serum concentration of PlGF (placental growth factor): A case control study]. / Impact du retard de croissance intra-utérin sur la concentration sérique maternelle du PlGF (Placental Growth Factor) : une étude cas-témoin.

OBJECTIVES: Placental growth factor (PlGF) is a pro-angiogenic factor mainly assessed in preeclampsia in which its blood concentration is decreased. The aim of this study was to dose the blood concentration of PlGF in women with fetal intra-uterine growth restriction (IUGR) without associated preeclampsia at the time of diagnosis. METHODS: Case/control study: IUGR was defined by a fetal biometry with abnormal uterine and/or umbilical doppler (n=23). This group was compared to a control group of fetuses (n=25) matched for gestational age at blood sampling for the dosage of maternal seric PlGF. Women with preeclampsia were not included. RESULTS: The plasma PlGF concentration was 11pg/mL (IQR [11-42,8]) in the IUGR group vs 287pg/mL [135-439] in the control group (P<0.001) and this difference was available after adjustment for gestational age at the time of blood sampling (P<0.001). PlGF sensitivity and specificity for discrimination were respectively 87% (CI 95% [66-97]) and 88% (CI 95% [69-97]). CONCLUSION: Maternal serum PlGF concentrations were very low in IUGR group compared with those of the control group.

Fetal thrombotic vasculopathy is associated with thromboembolic events and adverse perinatal outcome but not with neurologic complications: a retrospective cohort study of 54 cases with a 3-year follow-up of children.

OBJECTIVE: to test the hypothesis that placental fetal thrombotic vasculopathy (FTV) is associated with obstetric complications and predisposes the child to unfavorable outcomes. METHODS: 54 placentas with FTV lesions and 100 placentas without FTV lesions were collected over a 5-year period at the Croix-Rousse Pathology Department. Clinical findings including maternal, fetal, neonatal condition and pediatric outcome up to three years were collected for each case and control observation. The statistical analyses were assessed with Wald's chi-square derived from conditional logistic regression modeling. RESULTS: FTV was associated with a significantly higher frequency of obstetric complications: (pregnancy-induced hypertension (OR 3.620, CI 1.563-8.385), preeclampsia (OR 3.674, CI 1.500-8.998), emergency delivery procedures (OR 3.727, CI 1.477-9.403), cesarean sections (OR 2.684, CI 1.016-7.088)), poor fetal condition (intrauterine growth restriction (IUGR) (OR 5.440, CI 2.007-14.748), nonreassuring fetal heart tracing (OR 6.062, CI 2.280-16.115), difficulties in immediate ex utero adaptation (OR 3.416, CI 1.087-10.732)) and perinatal or early childhood demise (OR 3.043, CI 1.327-6.978). On pathological examination, FTV was associated with marginal cord insertion (OR 3.492, CI 1.350-9.035), cord stricture and hypercoiled cord (OR 3.936, CI 1.209-12.813). Thromboembolic events were significantly more frequent in cases with FTV (OR 2.154, CI 1.032-5.622). Neurological complications within the first 3 years of life were also more frequent in the FTV group compared to the control group, but this association was not statistically significant. CONCLUSIONS: FTV is associated with maternal complications, pathological findings in the placenta, especially gross cord abnormalities, IUGR, and poor perinatal or early childhood outcome. It may also predispose children to somatic thromboembolic events.

Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation.

By review of a series of cases, we set out to identify sonographic features suggestive of an obstructive mechanism in second-trimester fetuses with ventriculomegaly and describe developmental disorders related to pathological differentiation of the diencephalon, mesencephalon and rhombencephalon that lead to obstruction of cerebrospinal fluid flow. We studied retrospectively 11 fetuses referred for severe second-trimester ventriculomegaly of undetermined origin. Neurosonography was performed with detailed analysis of the third ventricle, thalami, cerebral aqueduct and cerebellum. The cerebral imaging data were compared with neuropathological data in eight patients, with a focus on the level and etiology of the obstruction. Parenchymal thinning and reduction of the pericerebral spaces were highly suggestive of ventriculomegaly due to an obstructive mechanism. The ventriculomegaly was related to diencephalosynapsis (thalamic fusion and third ventricle atresia) in five cases and partial/complete aqueduct stenosis in six; it was associated with cerebellar hypoplasia in six cases, including rhombencephalosynapsis in two cases. In nine patients, disorders of the diencephalon, mesencephalon and rhombencephalon were present. In cases of severe isolated ventriculomegaly in which sonographic features are suggestive of an obstructive mechanism, close examination of the third ventricle, thalami, aqueduct of Sylvius and cerebellum may reveal pathological differentiation of the diencephalon, mesencephalon or rhombencephalon, often in combination.

Value of ultrasound-guided fine-needle aspiration in the management of ovarian and paraovarian cysts.

This study was designed to assess if cytology was accurate for an appropriate diagnosis of ovarian and paraovarian cysts, and if the ultrasound-cytology-estradiol (UCE) triad was sufficient to discriminate functional vs. nonfunctional cysts, the latter requiring surgical resection. One hundred twenty-two ultrasound-diagnosed adnexal cysts were punctured and surgically removed, and then subjected to cytologic and histologic examinations; 90 of these fluids were assayed for estradiol. Histologically, 30 cysts were functional and 92 were nonfunctional. A correct discrimination between functional and nonfunctional origin was obtained in 54.9% of cases with cytology, in 94.4% with estradiol assay, in 50.8% with ultrasonography, and in 97.8% with these three examinations combined (UCE triad). Among the 34 patients with no criteria of neoplastic origin (age >40, ultrasonographic findings), the UCE triad diagnosed six functional cysts. Therefore, 17.6% (6/34) of these young women could have avoided unnecessary surgery. Diagn. Cytopathol. 2000;22:70-80.

[Primary pulmonary synovial sarcoma. Apropos of 1 case with cytogenetic study]. / Synovialosarcome pulmonaire primitif. A propos d'un cas avec étude cytogénétique.

Synovial sarcoma most commonly occurs in the peri-articular regions of the extremities. We report a case of primary pulmonary monophasic synovial sarcoma. This tumor is extremely rare and shows a particular immunohistochemical pattern of great help for the diagnosis. Cytogenetic study confirm the diagnosis by showing the specific t (X; 18) chromosomal translocation, characteristic of synovial sarcoma in all anatomic locations.

[Nasal involvement in atrophic polychondritis. A case report]. / L'atteinte nasale dans la polychondrite atrophiante. A propos d'une observation.

Relapsing polychondritis is a rare and little known inflammatory disease. The case of a 29-year-old woman who presented with a one-year history of saddle nose is discussed in this article. After waiting for one year, rhinoplasty was decided, with a good result at the 18th month. We prefer to use a calvarial bone graft for this disease and to only operate under stable and minor conditions.