Over 90% of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) harbor somatic mutations in myeloid-related genes, but still, current diagnostic criteria do not include molecular data. We performed genome-wide sequencing techniques to characterize the mutational landscape of a large and clinically well-characterized cohort including 367 adult MDS/MPN: chronic myelomonocytic leukemia (CMML, n=119), atypical chronic myeloid leukemia (aCML, n=71), MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T, n=71) and MDS/MPN unclassifiable (MDS/MPN-U, n=106). A total of 30 genes were recurrently mutated in ≥3% of the cohort. Distribution of recurrently mutated genes and clonal architecture differed among MDS/MPN subtypes. Statistical analysis revealed significant correlations between recurrently mutated genes, as well as genotype-phenotype associations. We identified specific gene combinations that associated with distinct MDS/MPN subtypes and that were mutually exclusive with most of the other MDS/MPN (e.g. TET2-SRSF2 in CMML, ASXL1-SETBP1 in aCML or SF3B1-JAK2 in MDS/MPN-RS-T). Patients with MDS/MPN-U were the most heterogeneous and displayed different molecular profiles that mimicked the ones observed in other MDS/MPN subtypes and that had an impact on the outcome of the patients. Specific gene mutations also had an impact on the outcome of the different MDS/MPN, which may be relevant for clinical decision-making. Overall, the results of this study help to elucidate the heterogeneity found in these neoplasms, which can be of use in the clinical setting of MDS/MPN.
Electroporation is a well-known phenomenon that occurs at the cell membrane when cells
are exposed to high-intensity electric pulses. Depending on electric pulse amplitude and
number of pulses, applied electroporation can be reversible with membrane permeability
recovery or irreversible. Reversible electroporation is used to introduce drugs or genetic
material into the cell without affecting cell viability. Electrochemotherapy refers to a
combined treatment: electroporation and drug injection to enhance its cytotoxic effect up
to 1000-fold for bleomycin. Since several years, electrochemotherapy is gaining popularity
as minimally invasive oncologic treatment. The adoption of electrochemotherapy procedure
in interventional oncology poses several unsolved questions, since suitable tumor
histology and size as well as therapeutic efficacy still needs to be deepen.
Electrochemotherapy is usually applied in palliative settings for the treatment of
patients with unresectable tumors to relieve pain and ameliorate quality of life. In most
cases, it is used in the treatment of advanced stages of neoplasia when radical surgical
treatment is not possible (eg, due to lesion location, size, and/or number). Further,
electrochemotherapy allows treating tumor nodules in the proximity of important structures
like vessels and nerves as the treatment does not involve tissue heating. Overall, the
safety profile of electrochemotherapy is favorable. Most of the observed adverse events
are local and transient, moderate local pain, erythema, edema, and muscle contractions
during electroporation. The aim of this article is to review the recent published clinical
experiences of electrochemotherapy use in deep-seated tumors with particular focus on
liver cases. The principle of electrochemotherapy as well as the application to cutaneous
metastases is briefly described. A short insight in the treatment of bone metastases,
unresectable pancreas cancer, and soft tissue sarcoma will be given. Preclinical and
clinical studies on treatment efficacy with electrochemotherapy of hepatic lesions and
safety of the procedure adopted are discussed.
The application of navigational systems has the potential to improve percutaneous interventions. The accuracy of ablation probe placement can be increased and radiation doses reduced. Two different types of systems can be distinguished, tracking systems and robotic systems. This review gives an overview of navigation devices for clinical application and summarizes first findings in the implementation of navigation in percutaneous interventions using irreversible electroporation. Because of the high number of navigation systems, this review focuses on commercially available ones.
• Gd-EOB-DTPA-enhanced T1 relaxometry quantifies liver function • Gd-EOB-DTPA-enhanced MR relaxometry may provide parameters for assessing liver function before surgery • Gd-EOB-DTPA-enhanced MR relaxometry may be useful for monitoring liver disease progression • Gd-EOB-DTPA-enhanced MR relaxometry has the potential to become a novel liver function index.
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