Combined hepatocellular-cholangiocarcinoma (cHCC-CCA), an extremely rare and underinvestigated subtype of primary liver cancer in children, generally has a poor prognosis and greater aggressiveness. Histological diagnosis of cHCC-CCA is difficult because of its diverse components, including hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA). cHCC-CCA shares some genetic alterations with HCC and CCA. However, only a few studies on genetic alterations in fibroblast growth factor receptor 2 (FGFR2) in cHCC-CCAs have been reported in adults. Therapeutic strategies for cHCC-CCAs are limited, and surgical resection is the only standard of care. No standard systemic treatment has been established for unresectable cHCC-CCAs. Herein, we report a rare case of a 14-year-old female patient diagnosed with unresectable cHCC-CCA with multiple liver masses and metastases to the lungs, lymph nodes and peritoneum. Next-generation sequencing (NGS) has identified an FGFR2-PRDM16 fusion, which has not been previously reported as a common FGFR2 fusion. The blood tumour markers alpha-fetoprotein (AFP) and carbohydrate antigen 19 - 9 (CA19 - 9) were both elevated. The patient was treated with pemigatinib (a selective FGFR inhibitor) in combination with Gemcitabine and Cisplatin at our hospital. After three cycles of the combination therapy, the patient achieved a partial response and normalization of tumor markers. After seven cycles of combination therapy, the patient achieved stable disease with the best response. Subsequently, the patient was administered received pemigatinib and gemcitabine. As of the last follow-up date, the patient has survived for 26 months. To the best of our knowledge, this is the first reported rare case of unresectable cHCC-CCA with FGFR2-PRDM16 fusion in a child successfully treated with a combination of pemigatinib and chemotherapy as a first-line regimen. This treatment combination may be effective and safe for patients with unresectable cHCC-CCAs.
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http://dx.doi.org/10.1186/s12943-024-02190-w | DOI Listing |
Expert Opin Pharmacother
December 2024
Department of Metabolic Medicine/Chemical Pathology Guy's & St Thomas' Hospitals, London, UK.
Introduction: Lipid-lowering therapies are well established for the treatment of cardiovascular disease (CVD). Historically monotherapy studies were performed but the introduction of statins has led to these drugs being recognized as baseline therapies and to the investigation of combination therapy of both older and newer medications with them.
Areas Covered: Surrogate marker studies have shown additive effects on LDL-C, triglycerides and HDL-C of combination therapies with statins and these have extended to lipoprotein (a).
J Intern Med
December 2024
Division of Cardiology, Department of Internal Medicine, Korea University Anam Hospital, Korea University College of Medicine, Seoul, South Korea.
Age Ageing
November 2024
Department of Physical Education and Sport, Faculty of Sport Sciences, University of Granada, Granada, Spain.
Lasers Med Sci
December 2024
Department of Prosthodontics, Faculty of Dentistry, Sabzevar University of Medical Sciences, Sabzevar, Iran.
Purpose: This systematic review and meta-analysis aimed to assess the gingival crevicular fluid (GCF) level of tumor necrosis factor-alpha (TNF-alpha) as a valuable inflammatory cytokine for estimation of the efficacy of adjunctive antimicrobial photodynamic therapy (aPDT) in stage II-IV periodontitis patients.
Methods: This review was conducted in accordance with the PRISMA statements, and registered in PROSPERO (CRD42022321211). An electronic search was conducted for articles comparing the efficacy of aPDT versus scaling and root planing (SRP) published up until June 2023.
Mol Biol (Mosk)
December 2024
Center of Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334 Russia.
The low knock-in efficiency, especially in primary human cells, limits the use of the genome editing technology for therapeutic purposes, rendering it important to develop approaches for increasing the knock-in levels. In this work, the efficiencies of several approaches were studied using a model of knock-in of a construct coding for the peptide HIV fusion inhibitor MT-C34 into the human CXCR4 locus in the CEM/R5 T cell line. First, donor DNA modification was evaluated as a means to improve the efficiency of plasmid transport into the nucleus.
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