Molecular alterations and potential actionable mutations in peritoneal mesothelioma: a scoping review of high-throughput sequencing studies.

BACKGROUND: Peritoneal mesothelioma (PeM) is a rare malignancy with a poor prognosis. Currently there is a lack of effective systemic therapies. Due to the rarity of PeM, it is challenging to study new treatment options. Off-label use of targeted drugs could be an effective approach. This scoping review aims to explore the genomic landscape of PeM to identify potential therapeutic targets. MATERIALS AND METHODS: A systematic literature search of Embase, Medline, Web of Science, the Cochrane Library, and Google Scholar was carried out up to 1 November 2022. Studies that reported on molecular alterations in PeM detected by high-throughput sequencing techniques were included. Genes that were altered in ≥1% of PeMs were selected for the identification of potential targeted therapies. RESULTS: Thirteen articles were included, comprising 824 PeM patients. In total, 142 genes were altered in ≥1% of patients, of which 7 genes were altered in ≥10%. BAP1 was the most commonly altered gene (50%). Other commonly altered genes were NF2 (25%), CDKN2A (23%), CDKN2B (17%), PBRM1 (15%), TP53 (14%), and SETD2 (13%). In total, 17% of PeM patients were carriers of a germline mutation, mainly in BAP1 (7%). CONCLUSIONS: This scoping review provides an overview of the mutational landscape of PeM. Germline mutations might be a larger contributor to the incidence of PeM than previously thought. Currently available targeted therapy options are limited, but several targeted agents [such as poly (ADP-ribose) polymerase (PARP), enhancer of zeste homolog 2 (EZH2), and cyclin-dependent kinase 4/6 (CDK4/6) inhibitors] were identified that might provide new targeted therapy options in the future.

Ultrasonographically measured testicular volumes in 0- to 6-year-old boys.

BACKGROUND: Aside from converted data from orchidometer measurements, there are no referential values for testicular volume ultrasound measurements in children available. Therefore, the aim of this study was to obtain ultrasonographically measured normative data for testicular volumes in 0- to 6-year-old boys. METHODS: A total of 344 boys from different ethnic backgrounds were studied. For the ultrasound measurements, an Aloka SSD-900 was used with a 7.5 mHz linear transducer. Testicular volume was calculated using the formula: length x width x height x (pi/6). RESULTS: No differences were found either between the various ethnic groups or between the left and right testicle. Mean testicular volume was compared between the different age categories. Mean testicular volume increases significantly in the first 5 months from 0.27 to 0.44 cm(3) after which the volume decreases to 0.31 cm(3) at approximately 9 months. During the following years, testicular volume remains stable. CONCLUSIONS: This study provides normal values for ultrasonographically measured testicular volumes in 0- to 6-year-old boys. Ultrasound is a valid method to measure small pre-pubertal testicles as it is able to detect minor changes in volume in relation to established physiological changes in the first year of life.