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- Razis, E., et al.
(author)
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Assessment of the management of carcinomatous meningitis from breast cancer globally: a study by the Breast International Group Brain Metastasis Task Force
- 2022
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In: ESMO Open. - : Elsevier BV. - 2059-7029. ; 7:3
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Journal article (peer-reviewed)abstract
- Background: Carcinomatous meningitis (CM) is a severe complication of breast cancer. The Breast International Group (BIG) carried out a survey to describe the approach to CM internationally. Patients and methods: A questionnaire on the management of CM was developed by the Brain Metastases Task Force of BIG and distributed to its groups, requesting one answer per group site. Results: A total of 241 sites responded, 119 from Europe, 9 from North America, 39 from Central/South America, 58 from Asia, and 16 in Australia/New Zealand, with 24.5% being general hospitals with oncology units, 44.4% university hospitals, 22.4% oncology centers, and 8.7% private hospitals. About 56.0% of sites reported seeing <5 cases annually with 60.6% reporting no increase in the number of cases of CM recently. Nearly 63.1% of sites investigate for CM when a patient has symptoms or radiological evidence, while 33.2% investigate only for symptoms. For diagnosis, 71.8% of sites required a positive cerebrospinal fluid cytology, while magnetic resonance imaging findings were sufficient in 23.7% of sites. Roughly 97.1% of sites treat CM and 51.9% also refer patients to palliative care. Intrathecal therapy is used in 41.9% of sites, mainly with methotrexate (74.3%). As many as 20 centers have a national registry for patients with breast cancer with central nervous system metastases and of those 5 have one for CM. Most (90.9%) centers would be interested in participating in a registry as well as in studies for CM, the latter preferably (62.1%) breast cancer subtype specific. Conclusions: This is the first study to map out the approach to CM from breast cancer globally. Although guidelines with level 1 evidence are lacking, there is a high degree of homogeneity in the approach to CM globally and great interest for conducting studies in this area.
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- Burton-Johnson, A., et al.
(author)
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A Triassic to Jurassic arc in north Borneo : Geochronology, geochemistry, and genesis of the Segama Valley Felsic Intrusions and the Sabah ophiolite
- 2020
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In: Gondwana Research. - : Elsevier BV. - 1342-937X .- 1878-0571. ; 84, s. 229-244
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Journal article (peer-reviewed)abstract
- New field, geochemical, and geochronological data from the Segama Valley Felsic Intrusions (SVFI) of Sabah, north Borneo, shows them to be arc-derived tonalites; not windows or partial melts of a crystalline basement beneath Sabah. U-Pb zircon ages date emplacement in the Triassic and Jurassic: 241.1 ± 2.0 Ma, 250.7 ± 1.9 Ma, 178.7 ± 2.4 Ma, and 178.6 ± 1.3 Ma; contemporaneous with peaks in magmatism and detrital zircons in Sarawak and west Kalimantan (west Borneo). Isotopic data for Sr, Nd, and Pb from whole rocks, and for Hf and O from zircon all show mantle and/or MORB affinities indicating a mantle-derived origin. Enrichment of fluid mobile trace elements and trace element ratios indicate that the most likely setting for this is in a continuation of the Sundaland continental arc. There is no evidence in the field, geochemical, or zircon U-Pb data for continental basement in the Segama Valley region. The intrusive nature of the Segama Valley tonalites constrains the emplacement age of their supra-subduction zone host rocks to at least the Triassic. This new data expands the Triassic and Jurassic extent of Borneo and the Sundaland arc, and challenges models of Borneo's development predominantly through allochthonous terrane accretion in the Cretaceous. Instead, we propose a model of protracted autochthonous growth through supra-subduction zone crustal extension and associated magmatism.
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- Gustavsson, Emil K., et al.
(author)
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The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
- 2024
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In: Science Advances. - 2375-2548. ; 10:26, s. 1-20
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Journal article (peer-reviewed)abstract
- Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for Parkinson’s disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene, GBAP1. We show that >50% of short RNA-sequencing reads mapping to GBA1 also map to GBAP1. Thus, we used long-read RNA sequencing in the human brain, which allowed us to accurately quantify expression from both GBA1 and GBAP1. We discovered significant differences in expression compared to short-read data and identify currently unannotated transcripts of both GBA1 and GBAP1. These included protein-coding transcripts from both genes that were translated in human brain, but without the known lysosomal function—yet accounting for almost a third of transcription. Analyzing brain-specific cell types using long-read and single-nucleus RNA sequencing revealed region-specific variations in transcript expression. Overall, these findings suggest nonlysosomal roles for GBA1 and GBAP1 with implications for our understanding of the role of GBA1 in health and disease.
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