A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor.

Maturity-onset diabetes of the young 3 (MODY3) is an autosomal dominant monogenic diabetes mellitus characterized by defective ß-cell function and non-insulin-dependent early-onset diabetes mellitus. The facts that patients with MODY3 are often misdiagnosed as type 1 and type 2 diabetes mellitus and genetic diagnosis is expensive, make its diagnosis very challenging. In this study, we reported a case of MODY3, which was verified to be caused by a mutation in hepatocyte nuclear factor 1α gene (c.598C>T, p.Arg200Trp). In addition, the patient had a neuroendocrine tumor simultaneously, and a KMT2D gene mutation (c.5587C>G, p.Pro1863Ala) might be associated with this leson.

Significance of tumor-associated antigens in the diagnosis and therapy of cancer: an overview.

An enormous effort using a wide variety of approaches has been undertaken over the last three decades to transform both basic and clinical research into improved diagnoses and therapies of cancer. This brief overview summarizes the significance of tumor-associated antigens (TAAs) in the diagnosis and therapy of cancer. Current data suggest that immunotherapy and gene therapy using antibody-recognized TAAs as their targets are promising, whereas those using T cell-recognized peptide epitopes of TAAs as their targets remain controversial regarding their efficacy, mainly due to general losses of HLA molecules in tumor cells.

Targeted sonodynamic therapy of cancer using a photosensitizer conjugated with antibody against carcinoembryonic antigen.

The goal of this study was to develop a strategy for the selective destruction of cancer cells by ultrasonic irradiation in the presence of an antibody-conjugated photosensitizer. To this end, a photoimmunoconjugate (PIC) was prepared between ATX-70, a photosensitizer of a gallium-porphyrin analogue, and F11-39, a high affinity monoclonal antibody (MAb) against carcinoembryonic antigen (CEA), which is often overexpressed in various carcinoma cells. This conjugate, designated F39/ATX-70, retained immunoreactivity against purified CEA and CEA-expressing cells as determined by enzyme-linked immunosorbent assay, flow cytometry and immunofluorescence microscopic analysis. The cytotoxicity of F39/ATX-70 against CEA-expressing human gastric carcinoma cells in vitro was found to be greater than that of ATX-70 when applied in combination with ultrasound irradiation. When in vivo anti-tumor effects in a mouse xenograft model were assessed, intravenous administration of F39/ATX-70 followed by ultrasonic irradiation produced a marked growth inhibition of tumor compared with irradiation alone or irradiation after administration of ATX-70. These results suggest that the PIC between anti-CEA MAb and ATX-70 may have applications in sonodynamic therapy where destruction of CEA-expressing tumor is required.

Gene transfer with echo-enhanced contrast agents: comparison between Albunex, Optison, and Levovist in mice--initial results.

PURPOSE: To determine if commercially available echo-enhanced microbubble contrast agents could be used to increase gene transfection efficiency by means of relatively low-intensity ultrasound-mediated microbubble destruction in skeletal muscles. MATERIALS AND METHODS: Three types of ultrasound microbubble contrast agents (0.01 mL of albumin [Albunex] and human albumin [Optison] and 10 mg/mL of SH U 508A [Levovist]) were each separately mixed with the reporter plasmid DNA (25 microg) encoding green fluorescent protein (GFP) prior to intramuscular injection into the quadriceps muscle of a mouse thigh bilaterally (seven mice per contrast agent). One of the muscle sites that was injected with plasmid DNA was irradiated with low-intensity therapeutic ultrasound (1 MHz) at an intensity of 2.0 W/cm2 for 2 minutes. Mice were sacrificed 7 days after ultrasound treatment for gene expression assay. The number of GFP-expressing muscle fibers was counted. Statistical significance was determined with a two-tailed Student t test. P <.05 was considered to indicate statistically significant difference. RESULTS: Muscle tissue exposed to ultrasound with air-filled Albunex or Levovist microbubbles revealed no difference in the number of GFP-expressing muscle fibers compared with the control non-ultrasound-exposed muscle. Albumin-coated octafluoropropane gas-filled Optison microbubbles showed a 10-fold increase in the number of GFP-expressing fibers (P <.05). CONCLUSION: Low-intensity ultrasound with echo-enhanced Optison induced efficient gene transfer unlike that with Albunex or Levovist.