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Lymphoepithelioma‐like carcinoma of the skin is an extremely rare tumour whose aetiology is yet to be established. An 83‐year‐old female presented with a rapidly growing plaque on the chest wall diagnosed as lymphoepithelioma‐like carcinoma histologically. Click https://www.wileyhealthlearning.com/#/online-courses/f65512bf-449f-477f-abe9-0c494f12c085 for the corresponding questions to this CME article. [ABSTRACT FROM AUTHOR]

Background: The physical characterisation of FFF-beam profiles in the presence of a magnetic field requires a new standardization procedure and formulation., Purpose: The aim of this multicentric experience is to propose new normalisation factors to allow for the calculation of standard parameters typical of flattened beams, such as dosimetric field size and penumbra, for a 6 MV FFF beam from an MR-linac., Methods: The measurements were carried out on three ViewRay-MRIdiansystems. An equal set of measurements was acquired using the same equipment. Transverse beam profiles were acquired at seven different depthsand for six beam dimensions.The inflection point was estimated as the position of the maximum of a Gaussian fit obtained from the first derivative of the profiles. The position of the minimum and maximum points of the second derivative of the above Gaussian described the fall-off region, and the external peaks of the third derivative were considered as the in-field and out-field points. The profile normalisation was determined by imposing a 55% dose level at the inflection point and the renormalisation factors were calculated., Results: The position of the inflection point, and the second and third derivatives peaks were analysed,and the renormalisation factors as a function of field size and depth were determined. The values of the unflatness and the slope have been calculated for different depths and field sizes., Conclusion: This study represents the first multi-centric evaluation of the profiles on different low-field MR-Linac systems and theset of renormalisation parameters to analyse the FFF-beam on that system was effectively proposed., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Associazione Italiana di Fisica Medica e Sanitaria. Published by Elsevier Ltd. All rights reserved.)

A patient presented with a 3-month history of a rapidly enlarging ulcerated tumour on his lower leg, occurring on a background of chronic idiopathic lymphoedema of approximately 10 years' duration. Histology revealed extensive infiltration of the dermis by a vascular tumour with pleomorphic and hyperchromatic endothelial cells, which stained positive for vascular markers CD31, CD34 and ERG. A diagnosis of lymphoedema-associated angiosarcoma was reached and our patient was treated with isolated limb perfusion with high-dose melphalan and tumour necrosis factor-alfa., (© 2022 British Association of Dermatologists.)

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD)., Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function., Results: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits., Conclusion: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.

Hypertrophy of the breast (macromastia and gigantomastia) is a rare medical condition of the breast connective tissues. The etiology of this condition is still not clear; rarely, gigantomastia has been reported to develop in the setting of an autoimmune illness. We reported a case of a 37-years-old woman with undifferentiated connective tissue disease of 2-years duration presented with enlargement of breasts. The breast enlargment started at 5 months of gestation. She successfully underwent reduction mammoplasty with free nipple graft. In the succeeding months the level of antinuclear ANA remained stable. It is uncertain whether a positive antinuclear antibodies in gigantomastia is a casuative agent or an effect.

To evaluate the expression of markers correlated with cellular senescence and DNA damage (8-hydroxy-2'-deoxy-guanosine (8-OHdG), p53, p21, APE1/Ref-1 (APE1), interleukin (IL-6 and IL-8) in placentas from healthy and pathologic pregnancies. This retrospective study considered a placental tissue micro-array containing 92 controls from different gestational ages and 158 pathological cases including preeclampsia (PE), HELLP syndrome (hemolysis, elevated liver enzymes, low platelet count), small for gestational age (SGA) fetuses, and intrauterine growth restriction (IUGR) occurring at different gestational ages. In this study, we demonstrated a significant influence of gestational age on the expression in the trophoblast of 8-OHdG, p53, p21, APE1, and IL-6. In placentas of cases affected by PE, HELLP, or IUGR, there was an increased expression of 8-OHdG, p53, APE1, and IL-6 compared to controls (only IL-8 was significantly decreased in cases). In both groups of pathology between 22- and 34-week gestation and after 34-week gestation, APE1 levels were higher in the trophoblast of women affected by hypertensive disorders of pregnancy than women carrying an IUGR fetus. The cytoplasmic expression of 8-OHdG was increased in placentas in IUGR cases compared to PE or HELLP pregnancies. In cases after 34-week gestation, p21 was higher in SGA and IUGR than in controls and late PE. Moreover, p53 was increased after 34-week gestation in IUGR pregnancies. Placentas from pathological pregnancies had an altered expression of 8-OHdG, p53, p21, APE1, IL-6, and IL-8. The alterations of intracellular pathways involving these elements may be the cause or the consequence of placental dysfunction, but in any case reflect an impaired placental function, possibly due to increased aging velocity in pathologic cases.