Imaging Factors Affecting Prenatal Counseling in Orofacial Clefts.

INTRODUCTION: We aim to correlate pre- and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. METHODS: Retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcomes. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings. RESULTS: 48 fetuses were included. Median gestational age at first US/MRI examination: 29+2 WG and 31+6 WG, respectively. The prenatal diagnosis was in accordance with postnatal findings with regard to the cleft type in 88% of the cases (n = 42/48) for US and/or MRI, 84% (n = 38/45) for US only, and 90% (n = 37/41) for MRI only. The nasal septum deviation and nostril collapse were underestimated by prenatal US in 48% (n = 12/25) and 44% (n = 11/25) of cases, respectively (Cohen's kappa of 0.22 and 0.32, respectively). Pre- and postnatal examinations were in accordance with 75% of cases (n = 8) regarding evaluation of anteroposterior maxillary shift in case of unilateral alveolar cleft and in 90% and 80% of cases (n = 10) regarding the degree of protrusion/deviation of the premaxillary protrusion in case of bilateral cleft, respectively. CONCLUSION: Prenatal imaging can accurately assess the type of orofacial cleft and evaluate maxillary shift and deviation of the premaxilla. It underestimates the nose deformity.

Assessment of an artificial intelligence aid for the detection of appendicular skeletal fractures in children and young adults by senior and junior radiologists.

BACKGROUND: As the number of conventional radiographic examinations in pediatric emergency departments increases, so, too, does the number of reading errors by radiologists. OBJECTIVE: The aim of this study is to investigate the ability of artificial intelligence (AI) to improve the detection of fractures by radiologists in children and young adults. MATERIALS AND METHODS: A cohort of 300 anonymized radiographs performed for the detection of appendicular fractures in patients ages 2 to 21 years was collected retrospectively. The ground truth for each examination was established after an independent review by two radiologists with expertise in musculoskeletal imaging. Discrepancies were resolved by consensus with a third radiologist. Half of the 300 examinations showed at least 1 fracture. Radiographs were read by three senior pediatric radiologists and five radiology residents in the usual manner and then read again immediately after with the help of AI. RESULTS: The mean sensitivity for all groups was 73.3% (110/150) without AI; it increased significantly by almost 10% (P<0.001) to 82.8% (125/150) with AI. For junior radiologists, it increased by 10.3% (P<0.001) and for senior radiologists by 8.2% (P=0.08). On average, there was no significant change in specificity (from 89.6% to 90.3% [+0.7%, P=0.28]); for junior radiologists, specificity increased from 86.2% to 87.6% (+1.4%, P=0.42) and for senior radiologists, it decreased from 95.1% to 94.9% (-0.2%, P=0.23). The stand-alone sensitivity and specificity of the AI were, respectively, 91% and 90%. CONCLUSION: With the help of AI, sensitivity increased by an average of 10% without significantly decreasing specificity in fracture detection in a predominantly pediatric population.

Relationship of Tumor Radiation-absorbed Dose to Survival and Response in Hepatocellular Carcinoma Treated with Transarterial Radioembolization with 90Y in the SARAH Study.

Background Little is known about factors that influence the efficacy of transarterial radioembolization (TARE). Purpose To determine the relationship between tumor radiation-absorbed dose and survival and tumor response in locally advanced inoperable hepatocellular carcinoma treated with TARE. Materials and Methods This was a secondary analysis of prospectively acquired data (between December 2011 and March 2015) from participants who received TARE in the Sorafenib versus Radioembolization in Advanced Hepatocellular Carcinoma (SARAH) trial (ClinicalTrials.gov identifier: NCT01482442). Tumor-absorbed dose was computed using technetium 99m (99mTc) macroaggregated human albumin (MAA) SPECT/CT. Visual agreement among CT, 99mTc-MAA SPECT/CT, and yttrium 90 (90Y) SPECT/CT or PET/CT was scored as optimal, suboptimal, or not optimal. Overall survival (OS) and tumor response at 6-month follow-up CT (Response Evaluation Criteria in Solid Tumors, version 1.1) were assessed. OS was evaluated using Kaplan-Meier tests. A propensity score comparing participants receiving a tumor dose greater than or equal to 100 Gy (best cut-off according to the receiver operating characteristic curve and median tumor radiation-absorbed dose values in the study groups) with those receiving sorafenib was calculated. Results One hundred twenty-one participants (median age, 67 years; interquartile range [IQR]: 61-73 years; 110 men) were evaluated in the dose-survival group, and 109 (median age, 66 years; IQR: 61-71 years; 100 men) were evaluated in the dose-tumor response group. In the dose-survival group, median OS was 9.3 months (95% confidence interval [CI]: 6.7 months, 10.7 months), and median tumor radiation-absorbed dose was 112 Gy (IQR: 68-220 Gy). Participants who received at least 100 Gy (n = 67) had longer survival than those who received less than 100 Gy (median, 14.1 months [95% CI: 9.6 months, 18.6 months] vs 6.1 months [95% CI: 4.9 months, 6.8 months], respectively; P < .001), and those with optimal agreement (n = 24) had the longest median OS (24.9 months; 95% CI: 9.6 months, 33.9 months). In the dose-tumor response group, tumor radiation-absorbed dose was higher in participants with disease control versus those with progressive disease (median, 121 Gy [IQR: 86-190 Gy] vs 85 Gy [IQR: 58-164 Gy]; P = .02). The highest disease control rate was observed in 31 of 40 participants (78%) with a tumor radiation-absorbed dose greater than or equal to 100 Gy and optimal agreement. Conclusion Higher tumor radiation-absorbed dose computed at technetium 99m macroaggregated human albumin SPECT/CT was associated with better overall survival and disease control in hepatocellular carcinoma treated with transarterial radioembolization with yttrium 90 in the Sorafenib versus Radioembolization in Advanced Hepatocellular Carcinoma trial. © RSNA, 2020 Online supplemental material is available for this article. See also the editorial by Sofocleous and Kamarinos in this issue.

Imaging characterization of paediatric tumours with the neurotrophic tyrosine receptor kinase fusion transcript.

OBJECTIVES: The neurotrophic tyrosine receptor kinase (NTRK) fusion transcript (FT) is a major genetic landmark of infantile fibrosarcoma (IFS) and cellular congenital mesoblastic nephroma (cCMN) but is also described in other tumours. The recent availability of NTRK-targeted drugs enhances the need for better identification. We aimed to describe the anatomic locations and imaging features of tumours with NTRK-FT in children. CASE SERIES: Imaging characteristics of NTRK-FT tumours of 41 children (median age: 4 months; 63% <1 year old; range: 0-188) managed between 2001 and 2019 were retrospectively analysed. The tumours were located in the soft tissues (n = 24, including 19 IFS), kidneys (n = 9, including 8 cCMN), central nervous system (CNS) (n = 5), lung (n = 2), and bone (n = 1). The tumours were frequently deep-located (93%) and heterogeneous (71%) with necrotic (53%) or haemorrhagic components (29%). Although inconstant, enlarged intratumoural vessels were a recurrent finding (70%) with an irregular distribution (63%) in the most frequent anatomical locations. CONCLUSION: Paediatric NTRK-FT tumours mainly occur in infants with very variable histotypes and locations. Rich and irregular intra-tumoural vascularization are recurrent findings. ADVANCES IN KNOWLEDGE: Apart from IFS of soft tissues and cCMN of the kidneys, others NTRK-FT tumours locations have to be known, as CNS tumours. Better knowledge of the imaging characteristics may help guide the pathological and biological identification.

High performance for bone age estimation with an artificial intelligence solution.

PURPOSE: The purpose of this study was to compare the performance of an artificial intelligence (AI) solution to that of a senior general radiologist for bone age assessment. MATERIAL AND METHODS: Anteroposterior hand radiographs of eight boys and eight girls from each age interval between five and 17 year-old from four different radiology departments were retrospectively collected. Two board-certified pediatric radiologists with knowledge of the sex and chronological age of the patients independently estimated the Greulich and Pyle bone age to determine the standard of reference. A senior general radiologist not specialized in pediatric radiology (further referred to as "the reader") then determined the bone age with knowledge of the sex and chronological age. The results of the reader were then compared to those of the AI solution using mean absolute error (MAE) in age estimation. RESULTS: The study dataset included a total of 206 patients (102 boys of mean chronological age of 10.9 ± 3.7 [SD] years, 104 girls of mean chronological age of 11 ± 3.7 [SD] years). For both sexes, the AI algorithm showed a significantly lower MAE than the reader (P < 0.007). In boys, the MAE was 0.488 years (95% confidence interval [CI]: 0.28-0.44; r2 = 0.978) for the AI algorithm and 0.771 years (95% CI: 0.64-0.90; r2 = 0.94) for the reader. In girls, the MAE was 0.494 years (95% CI: 0.41-0.56; r2 = 0.973) for the AI algorithm and 0.673 years (95% CI: 0.54-0.81; r2 = 0.934) for the reader. CONCLUSION: The AI solution better estimates the Greulich and Pyle bone age than a general radiologist does.

Neurotrophic tropomyosin receptor kinase (NTRK) fusion positive tumors: a historical cohort analysis.

BACKGROUND: NTRK gene fusions have been identified in various tumors; some requiring aggressive therapy and sometimes new TRK inhibitors (TRKi). We aimed to describe a national, unselected, retrospective, multicenter cohort. RESEARCH DESIGN AND METHODS: Patients were identified through the French sarcoma diagnostic laboratory at Institut Curie through samples analyzed by RT-qPCR or whole-transcriptome sequencing. RESULTS: From 2001 to 2019, 65 NTRK fusion tumors were identified within 2120 analyses (3.1%): 58 by RNA sequencing (including 20 after RT-qPCR analysis) and 7 exclusively by RT-qPCR. Of the 61 patients identified, 37 patients had infantile soft tissue or kidney fibrosarcomas (IFS), 15 other mesenchymal (Other-MT) and nine central nervous system (CNS) tumors. They encompassed 14 different tumor types with variable behaviors. Overall, 53 patients had surgery (3 mutilating), 38 chemotherapy (20 alkylating agents/anthracycline), 11 radiotherapy, two 'observation strategy' and 13 received TRKi. After a median follow-up of 61.0 months [range, 2.5-226.0], 10 patients died. Five-year overall survival is, respectively, 91.9% [95%CI, 83.5-100.0], 61.1% [95%CI, 34.2-100.0] and 64.8% [95%CI, 39.3-100.0] for IFS, Other-MT, and CNS groups. CONCLUSIONS: NTRK-fusion positive tumors are rare but detection is improved through RNA sequencing. TRKi could be considered at diagnosis for CNS NTRK-fusion positive tumors, some IFS, and Other-MT. TRIAL REGISTRATION: Not adapted.

Precocious puberty related to Leydig cell testicular tumor: the diagnostic imaging keys.

BACKGROUND: We report the challenging case of a 6-year-old boy with precocious puberty related to histologically proven Leydig cell tumor. CASE PRESENTATION: Multiparametric ultrasound and magnetic resonance imaging (MRI) was performed. Interesting findings were scarcely or never reported in children and differed from adults Leydig cell tumors s such as the hyperechogenic halo surrounding the lesion and the dominant central vascularization using ultrasensitive Doppler. MRI revealed an enlarged testicle with strong enhancement of a tumor, a tumor apparent diffusion coefficient (ADC) of 600 × 10-3 mm2/s and a lower ADC value of the non-tumor parenchyma compared to the contralateral testis (ADC = 800 × 10-3 mm2/s vs 1100 × 10-3 mm2/s), attributed to the spermatogenesis induced by hormonal impregnation. CONCLUSION: We illustrate multiparametric US and MRI findings of a pediatric Leydig cell tumor, including the imaging changes attributed to local hormone secretion, which may be helpful in similar cases.

Imaging of parotid anomalies in infants and children.

A wide spectrum of disorders involves the parotid glands, in infancy and childhood. Acute or chronic inflammatory/infectious diseases are predominant. The first branchial cleft anomalies are congenital lesions that typically manifest during childhood. Tumor lesions are more likely to be benign, with infantile hemangioma the most common in infancy and pleomorphic adenoma the most frequent in childhood. Malignant tumors are uncommon, with mucoepidermoid carcinoma the least rare. Infiltrative parotid diseases are rare and have some pediatric clinical specificities. These common and uncommon disorders of parotid glands during childhood and their imaging characteristics are reviewed.

Imaging of Pediatric Testicular and Para-Testicular Tumors: A Pictural Review.

Pre- and post-pubertal testicular tumors are two distinct entities in terms of epidemiology, diagnosis and treatment. Most pre-pubertal tumors are benign; the most frequent are teratomas, and the most common malignant tumors are yolk-sac tumors. Post-pubertal tumors are similar to those found in adults and are more likely to be malignant. Imaging plays a pivotal role in the diagnosis, staging and follow-up. The appearance on ultrasonography (US) is especially helpful to differentiate benign lesions that could be candidates for testis-sparing surgery from malignant ones that require radical orchidectomy. Some specific imaging patterns are described for benign lesions: epidermoid cysts, mature cystic teratomas and Leydig-cell tumors. Benign tumors tend to be well-circumscribed, with decreased Doppler flow on US, but malignancy should be suspected when US shows an inhomogeneous, not-well-described lesion with internal blood flow. Imaging features should always be interpreted in combination with clinical and biological data including serum levels of tumor markers and even intra-operative frozen sections in case of conservative surgery to raise any concerns of malignity. This review provides an overview of imaging features of the most frequent testicular and para-testicular tumor types in children and the value of imaging in disease staging and monitoring children with testicular tumors or risk factors for testicular tumors.

Percutaneous restoration of bone continuity with screws and PMMA cement in an extensive destruction of the pelvis.

We report a case of combined percutaneous screw placement and cementoplasty guided by CT and fluoroscopy in a 66-year-old man with extensive osteolytic destruction of the right iliac bone and sacral wing due to metastasic infiltrative vesical carcinoma. The medical condition was responsible for very limited and painful walking. Two perpendicular screws were inserted into the iliac bone and sacroiliac joint, and bone cement injection was used to anchor the screws and restore the mechanical continuity of the pelvis ring. This minimally invasive procedure allowed for significant and rapid resumption of painless walking.

Aneurysmal bone cyst of the frontal bone - A radiologic-pathologic correlation.

We present a case of 27-year-old female who presented for a progressive frontal swelling with ipsilateral headache. Subsequent CT scan revealed an extradural and expansile multiloculated mass with thin and strongly enhanced septations and MRI evaluation showed internal hyperintensity on T2 with no restriction of diffusion and confirmed the multiple cystic spaces with enhancing septations and rare hemorrhagic fluid-fluid levels. Surgery was performed and diagnosis of aneurysmal bone cyst was made on frozen section. Identification of USP6 fusion gene by in situ hybridization technique permitted to confirm the diagnosis of primary ABC. Although aneurysmal bone cyst (ABC) of the skull is a very rare entity and accounts for 2-6% of all ABCs, we should think about it in front of osteolytic and cystic skull changes even with very few fluid-fluid levels. Following description of our case and differential diagnoses, we conduct a literature review of skull ABCs imaging characteristics and discuss the interest of USP6 rearrangement identification.