Publications by authors named "Kota Hira"
Article Synopsis
- * In a case study of a Japanese girl with mosaic variegated aneuploidy syndrome, a known pathogenic variant was found using exome sequencing, but additional pathogenic variants were identified through RNA-seq and adaptive sampling techniques.
- * The research demonstrated that RNA-seq can unveil transcriptomic abnormalities linked to pathological variants, showcasing the effectiveness of long-read sequencing in detecting complex genetic insertions.
Article Synopsis
- - Gemcitabine and Docetaxel (GEM/DTX) are common chemotherapy drugs used for soft tissue sarcomas but their effectiveness against malignant rhabdoid tumors (MRTs) is not well-studied.
- - In a small study, GEM/DTX was used as salvage therapy for relapsed MRTs, showing partial responses in 3 out of 4 patients, including two with malignant rhabdoid tumors of the kidney.
- - While GEM/DTX shows potential for treating resistant MRTs, there are specific side effects that require careful monitoring, such as localized edema and pleural effusion.
Ponatinib is a third-generation tyrosine kinase inhibitor (TKI) reported to show a higher efficacy for adult Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) than other TKIs. However, few studies describe ponatinib for pediatric Ph+ALL; therefore, the efficacy, safety, and optimal dosage have not been determined. Here, we report a 3-year-old girl with Ph+ALL treated by a ponatinib-containing regimen with therapeutic drug monitoring in the plasma and cerebrospinal fluid (CSF).
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