Machine learning (ML) is an interdisciplinary sector in the subset of artificial intelligence (AI) that creates systems to set up logical connections using algorithms, and thus offers predictions for ...complex data analysis. In the present review, an up-to-date summary of the current state of the art regarding ML and AI implementation for thyroid nodule ultrasound characterization and cancer is provided, highlighting controversies over AI application as well as possible benefits of ML, such as, for example, training purposes. There is evidence that AI increases diagnostic accuracy and significantly limits inter-observer variability by using standardized mathematical algorithms. It could also be of aid in practice settings with limited sub-specialty expertise, offering a second opinion by means of radiomics and computer-assisted diagnosis. The introduction of AI represents a revolutionary event in thyroid nodule evaluation, but key issues for further implementation include integration with radiologist expertise, impact on workflow and efficiency, and performance monitoring.
Orbital and ocular adnexa lymphomas are rare neoplasms confined to the orbital region. The prognosis is generally favorable, with a high proportion of localized disease, indolent clinical course, ...prolonged disease-free intervals, and low lymphoma-related mortality rate. We report our experience on eleven patients with confirmed histological diagnosis of lymphoma stage IE-IIE, treated between 2010 and 2021 with radiotherapy alone or in association with chemotherapy or immunotherapy. Eight patients were treated with primary radiotherapy only, while three received previous systemic treatments. Six patients were treated with Proton beam therapy (PBT), and five with external beam radiotherapy (EBRT). The five-year local control rate was 98%; only one patient developed an out-of-field recurrence. We also conducted a comprehensive literature review using electronic databases (PubMed, EMBASE, and Cochrane Library). Articles were selected based on their pertinence to treatment of the ocular and adnexal lymphoma focusing on radiotherapy techniques (electron beam radiotherapy, photon beam radiotherapy, or proton beam radiotherapy), treatment total dose, fractionation schedule, early and late radio-induced toxicities, and patient's clinical outcome. Radiotherapy is an effective treatment option for orbital lymphoma, especially as standard treatment in the early stage of orbital lymphoma, with excellent local control rate and low rates of toxicity.
In this retrospective case series, we investigate the synergistic effect and the immunomodulatory potential of combination radiotherapy and immunotherapy on 11 patients affected by locally advanced ...or metastatic cutaneous squamous cell carcinoma (CSCC), treated at our institution between 2020 and 2023. The primary endpoints of this study are objective tumor response, assessed by Immunotherapy Response Evaluation Criteria in Solid Tumors (iRECIST), and time to treatment failure (disease progression). In all patients, surgery was deemed not amenable, due to its potential functional and aesthetic impact. Therefore, upon multidisciplinary agreement, radiotherapy and immunotherapy with cemiplimab were alternatively administered. After 6 months, an early objective tumor response was observed in 9/11 patients, with 17/20 cutaneous lesions (85%) presenting either a complete or partial response. Only 2/11 patients, with a total of 3/20 cutaneous lesions (15%), had stable disease. These benefits persisted at a longer follow-up (21.4 ± 9.7 months), with no patients presenting disease progression. Despite the retrospective nature of this study and small sample size, our experience highlights the ability of concomitant radiotherapy and cemiplimab to promote an early objective response in patients with advanced CSCC. Moreover, in our population, the clinical benefits were also related to a longer progression-free survival, without any safety alert reported.
Histopathologically, uveal melanomas (UMs) can be classified as spindle cell, mixed cell and epithelioid cell type, with the latter having a more severe prognosis. The aim of our study was to assess ...the correlation between the apparent diffusion coefficient (ADC) and the histologic type of UMs in order to verify the role of diffusion-weighted magnetic resonance imaging (DWI) as a noninvasive prognostic marker. A total of 26 patients with UMs who had undergone MRI and subsequent primary enucleation were retrospectively selected. The ADC of the tumor was compared with the histologic type. The data were compared using both one-way analysis of variance (ANOVA) (assessing the three histologic types separately) and the independent
-test (dichotomizing histologic subtypes as epithelioid versus non-epithelioid). Histologic type was present as follows: the epithelioid cell was
= 4, and the spindle cell was
= 11, the mixed cell type was
= 11. The mean ADC was 1.06 ± 0.24 × 10
mm
/s in the epithelioid cells, 0.98 ± 0.19 × 10
mm
/s in the spindle cells and 0.96 ± 0.26 × 10
mm
/s in the mixed cell type. No significant difference in the mean ADC value of the histopathologic subtypes was found, either when assessing the three histologic types separately (
= 0.76) or after dichotomizing the histologic subtypes as epithelioid and non-epithelioid (
= 0.82). DWI-ADC is not accurate enough to distinguish histologic types of UMs.
Ultrasound (US) is the first imaging modality for thyroid parenchyma evaluation. In the last decades, the role of ultrasound has been improved with the introduction of new US software, such as ...contrast-enhanced ultrasound (CEUS) and US-elastography (USE). USE is nowadays recognized as an essential part of the multiparametric ultrasound (MPUS) examination, in particular for the indeterminate thyroid nodule with possible fine-needle aspiration cytology (FNAC) number reduction; even if further and larger studies are needed to validate it. More controversial is the role of CEUS in thyroid evaluation, due to its high variability in sensitivity and specificity. Semi-automatic US systems based on the computer-aided diagnosis (CAD) system are producing interesting results, especially as an aid to less experienced operators. New knowledge on the molecular mechanisms involved in thyroid cancer is allowing practitioners to identify new genomic thyroid markers that could reduce the number of “diagnostic” thyroidectomies. We have therefore drawn up an updated representation of the current evidence in the literature for thyroid nodule multiparametric ultrasound (MPUS) evaluation with particular regard to USE, the US CAD system and CEUS.
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, ...gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes
,
,
,
or, rarely,
, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging. Neurological involvement in CFC is more severe than in other RASopathies. Phenotypic variability in CFC patients is related to the specific gene affected, without a recognized genotype-phenotype correlation for distinct pathogenic variants. Currently, there is no specific treatment for CFC syndrome. Encouraging zebrafish model system studies suggested that, in the future, MEK inhibitors could be a suitable treatment of progressive phenotypes of CFC in children. A multidisciplinary care is necessary for appropriate medical management.
To evaluate the diagnostic performance of strain elastography (SE) and 2 D shear wave elastography (SWE) and SE/SWE combination in comparison with conventional multiparametric ultrasound (US) with ...respect to improving BI-RADS classification results and differentiating benign and malignant breast lesions using a qualitative and quantitative assessment.
In this prospective study, 130 histologically proven breast masses were evaluated with baseline US, color Doppler ultrasound (CDUS), SE and SWE (Toshiba Aplio 500 with a 7-15 MHz wide-band linear transducer). Each lesion was classified according to the BIRADS lexicon by evaluating the size, the B-mode and color Doppler features, the SE qualitative (point color scale) and SE semi-quantitative (strain ratio) methods, and quantitative SWE. Histological results were compared with BIRADS, strain ratio (SR) and shear wave elastography (SWE) all performed by one investigator blinded to the clinical examination and mammographic results at the time of the US examination. The area under the ROC curve (AUC) was calculated to evaluate the diagnostic performance of B-mode US, SE, SWE, and their combination.
Histological examination revealed 47 benign and 83 malignant breast lesions. The accuracy of SR was statistically significantly higher than SWE (sensitivity, specificity and AUC were 89.2 %, 76.6 % and 0.83 for SR and 72.3 %, 66.0 % and 0.69 for SWE, respectively, p = 0.003) but not higher than B-mode US (B-mode US sensitivity, specificity and AUC were 85.5 %, 78.8 %, 0.821, respectively, p = 1.000).
Our experience suggests that conventional US in combination with both SE and SWE is a valid tool that can be useful in the clinical setting, can improve BIRADS category assessment and may help in the differentiation of benign from malignant breast lesions, with SE having higher accuracy than SWE.
Background: type 1 neurofibromatosis (NF1) is the most common neurocutaneous disorder, and it is an inherited condition that causes a tumour predisposition. Central nervous system (CNS) ...manifestations are a significant cause of morbidity and mortality in NF1. We provide a pictorial review of neuroradiological features of NF1, with emphasis on magnetic resonance imaging (MRI), and we assess the frequency of those features on a cohort of NF1 patients. Methods: we retrospectively evaluated all patients with a diagnosis of NF1 who underwent MRI of the spine and brain in our centre over a period of almost 5 years. A total of 74 patients were enrolled, 28 males and 46 females, with a mean age of 21 ± 12.67 years. The frequency of CNS manifestations encountered in our cohort of NF1 patients was assessed and compared with the data found in other studies published in the literature. Results: many of our findings were in line with the literature, and possible interpretations for those that turned out to be different were suggested in the discussion. Conclusion: imaging plays a central role in the diagnosis and management of NF1, and the knowledge of CNS manifestations could be critical for its early detection and identification, such as for treatment planning and prognostic implications.
: Benign prostatic hyperplasia (BPH) has a significant impact on the quality of life of symptomatic patients. In patients manifesting lower urinary tract symptoms (LUTS), prostatic arterial ...embolization (PAE) has become a topic of interest in recent years. The purpose of this systematic review is to analyze and review techniques and clinical outcomes of patients who underwent endovascular treatment of BPH, with a special focus on the comparison of surgical and endovascular procedures.
: Through the major scientific databases, 1225 articles were selected from the initial research utilizing specific keywords and medical subject headings. Based on the inclusion and exclusion criteria established for selecting relevant studies for our purposes, the systematic analysis of the literature was conducted on a total of seven articles.
: We collected data on 718 male patients (408 patients underwent PAE and 310 received TURP). The technical success rate varied from 86% to 100% for TAE and was 100% for TURP. During a 12-month follow-up period, both PAE and TURP were comparable on the reduction in IPSS and QoL questionnaire, while TURP showed significant improvements in Qmax and in the reduction in prostate volume. Length and cost of hospitalization were lower for PAE. Complication and adverse events rates were higher in the TURP group rather than in the PAE group (60.6% vs. 35.5%).
: Prostatic artery embolization represents an emerging minimally invasive procedure for BPH. According to previously released clinical studies, quality-of-life and urological symptom scores of the PAE group were comparable to those of the TURP group. Our research strengthens the evidence supporting the effectiveness and safety of PAE as a therapy for LUTS related to BPH.
The aim of this study was to retrospectly investigate the association between different breast cancer (BC) immunohistochemical subtypes and morphological and semiquantitative kinetic analysis on ...breast magnetic resonance imaging (MRI) performed before surgery treatment. Specifically we aimed to assess MRI features of triple-negative breast cancer (TNBC) compared to the other BC subtypes (nTNBC).
Patients undergone to breast MRI and then diagnosed with BC by core-needle biopsy were included. The MRI morphological and kinetic features were studied. Parametric and non-parametric tests were used, as appropriate.
Seventy-five BC patients were considered, 30 patients included in TNBC Group and 45 patients included in nTNBC Group. We found in TNBC Group a greater mean lesion size (P <0.001), a rim enhancement imaging (P=0.003), and a higher intratumoral signal intensity on T2-weighted images (P=0.03) with respect to nTNBC Group. We noticed that TNBC patients presented a lower grade of BPE when compared to the nTBC Group (P< 0.02). TNBC Group showed lower EPeak values (P=0.003) and higher SER values (P=0.02) with respect to the nTNBC Group. In addition, stratifying kinetics parameters according to the tumor grade, the TNBC Group presented higher tumor grade (G3) (P< 0.005) and this subgroup had higher SER values when compared to TNBCs showing a lower tumor grade (G1 and G2) (P=0.03).
After validation by large-scale studies, the morphological and semiquantitative kinetic analysis on dynamic contrast enhanced MRI may help in the pretreatment risk stratification of patients with TNBC and in evidence-based clinical decision support.
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