Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report.

BACKGROUND: Multiple primary malignancies are rare in cancer patients, and risk factors may include genetics, viral infection, smoking, radiation, and other environmental factors. Lynch syndrome (LS) is the most prevalent form of hereditary predisposition to double primary colorectal and endometrial cancer in females. LS, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a common autosomal dominant condition. Pathogenic germline variants in the DNA mismatch repair (MMR) genes, namely MLH1, MSH2, MSH6, and PMS2, and less frequently, deletions in the 3' end of EPCAM cause LS. It manifested itself as loss of MMR nuclear tumor staining (MMR protein deficient, dMMR). CASE PRESENTATION: This case study describes a double primary carcinoma in a 49-year-old female. In June 2022, the patient was diagnosed with highly to moderately differentiated endometrioid adenocarcinoma. The patient's mother died of esophageal cancer at age 50, and the father died of undefined reasons at age 70. Immunohistochemical stainings found ER (++), PR (++), P53 (+), MSH2 (-), MSH6 (+), MLH1 (+), and PMS2 (+). MMR gene sequencing was performed on endometrial tumor and peripheral blood samples from this patient. The patient carried two pathogenic somatic mutations in the endometrial tumor, MSH6 c.3261dupC (p.Phe1088LeufsTer5) and MSH2 c.445_448dup (p.Val150fs), in addition to a rare germline mutation MSH6 c.133G > C (p.Gly45Arg). Two years ago, the patient was diagnosed with moderately differentiated adenocarcinoma in the left-half colon. Immunohistochemical stainings found MSH2(-), MSH6(+), MLH1(+), and PMS2(+) (data not shown). CONCLUSIONS: In the case of a patient with double primary EC and CRC, a careful evaluation of the IHC and the genetic data was presented. The patient carried rare compound heterozygous variants, a germline missense mutation, and a somatic frameshift mutation of MSH6, combined with a novel somatic null variant of MSH2. Our study broadened the variant spectrum of double primary cancer and provided insight into the molecular basis for abnormal MSH2 protein loss and double primary carcinoma.

Revisiting Defect-Induced Light Field Enhancement in Optical Thin Films.

Based on a finite-difference time-domain method, we revisited the light field intensification in optical films due to defects with different geometries. It was found that defect can induce the local light intensification in optical films and the spherical defects resulted in the highest light intensification among the defect types investigated. Light intensification can increase with defect diameter and the relative refractive index between the defect and the film layer. The shallow defects tended to have the highest light intensification. Finally, the extinction coefficient of the defect had a significant effect on light intensification. Our investigations revealed that the light field intensification induced by a nano-defect is mainly attributed to the interference enhancement of incident light and diffracted or reflected light by defects when the size of the defect is in the subwavelength range.

Light Field Intensification in Optical Films Induced by Intercoupling of Defects and Organic Contamination.

Based on the finite-difference time-domain method, light field intensification in optical films due to the intercoupling of defects and organic contamination was analyzed. The results show that the intercoupling between the defect and the organic contamination droplet leads to an increase in the local electric field and the coupling effect enhances with the decreasing distance between the defect and the organic contamination droplet and the increasing diameter of the organic contamination droplet. The coupling effect of the defect and the organic contamination layer depends on not only the thickness of the organic contamination layer but also the refractive index of the organic contamination layer. With the thickness and the refractive index of the organic contamination layer increasing, the peak value of the electric field decreases. This work deepens the physical understanding of the degradation mechanism of laser-induced damage in optical thin films used in vacuum.

Optical Force and Torque on a Graphene-Coated Gold Nanosphere by a Vector Bessel Beam.

In the framework of the generalized Lorenz-Mie theory (GLMT), the optical force and torque on a graphene-coated gold nanosphere by a vector Bessel beam are investigated. The core of the particle is gold, whose dielectric function is given by the Drude-Sommerfeld model, and the coating is multilayer graphene with layer number N, whose dielectric function is described by the Lorentz-Drude model. The axial optical force Fz and torque Tz are numerically analyzed, and the effects of the layer number N, wavelength λ, and beam parameters (half-cone angle α0, polarization, and order l) are mainly discussed. Numerical results show that the optical force and torque peaks can be adjusted by increasing the thickness of the graphene coating, and can not be adjusted by changing α0 and l. However, α0 and l can change the magnitude of the optical force and torque. The numerical results have potential applications involving the trapped graphene-coated gold nanosphere.

Temperature field analysis of TiO2 films with high-absorptance inclusions.

To deduce the location of absorptive inclusions in thin films, temperature distributions in pure TiO(2) films and TiO(2) films with high-absorptance inclusions are analyzed based on temperature field theory. According to our theoretic simulations, the surface temperature rise increases when absorptive inclusions are incorporated into thin films and shows different values for different inclusions. With the increase of inclusion thickness, the surface temperature rise varies and has a maximum value. A potential method is presented to deduce the location of absorptive inclusion through calculating the surface temperature rise at two modulated frequencies, if it is possible to know in advance the inclusion material or to prejudge this from a thin-film deposition process.

Temperature field analysis of single-layer TiO2 films.

A method is presented to evaluate optical absorption at a random wavelength by calculating temperature distribution in single-layer TiO(2) films. Temperature distribution in single-layer TiO(2) films was analyzed based on temperature field theory. Through our calculations, optical absorption variation was obtained to be similar to that of surface temperature rise in films. The surface temperature rise depends on film thickness, refractive index, extinction coefficient, specific heat, and thermal conductivity. Furthermore, the optical absorptions of the same single-layer TiO(2) film at different wavelengths were deduced. As an example, the surface temperature rises were calculated for the 19 single-layer TiO(2) films, which had been prepared by 12 different laboratories for the annual meeting of the Optical Society of America in 1986. The results agree well with the measured optical absorptions.

Annealing effect on the laser-induced damage resistance of ZrO(2) films in vacuum.

By modifying some structural characteristics, the annealing process can have considerable effects on the optical performance and laser-induced damage resistance of ZrO(2) thin films deposited by electron-beam deposition. Annealing at increased temperature gives rise to an increase of refractive index, the evolutions of packing density, and the structure order of the films due to the removal of adsorbed water in advance, material crystallization, and phase transformation. Thus, the combined effects of greatly strengthened endurance, crystal structure ordering, and stress transition after the annealing leads to an increase of the laser-induced damage threshold in a vacuum environment from 12 to 16 J/cm(2) (at 1064 nm, 12 ns pulse duration, and 1-on-1 testing mode).