Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood.

Germline pathogenic ETV6 variants have been discovered in families with inherited thrombocytopenia and predisposition to hematological and solid malignancies. We present a patient with short stature who was initially diagnosed with chronic immune thrombocytopenia. Subsequently, the patient developed acute lymphoblastic leukemia, followed by mammary analog secretory carcinoma. Sequencing analysis identified an ETV6 c.641C > T (p.Pro214Leu) germline variant. The variant protein exhibited attenuated nuclear localization, increased protein degradation, and reduced transcription repression function. Our findings suggest that the ETV6 gene should be sequenced in patients with inherited thrombocytopenia and malignancy, and emphasize the importance of careful follow-up to identify secondary cancer in patients with pathogenic ETV6 variants.

1,4-Naphthalenediyl-Bridged Molecular Gyrotops: Rotation of the Rotor and Fluorescence in Solution.

Macrocage molecules with a bridged π-electron system have been reported as molecular gyrotops in which the π-electron system can rotate within the cage. We recently reported the dynamics of the rotor in solution using 1,4-naphthalenediyl-bridged molecular gyrotops, which consist of cages formed of three C14, C16, or C18 chains. In this work, we synthesized novel gyrotops with C15 and C17 chains and systematically investigated the activation energies for the rotation of the rotor in solution. The activation energies for rotation in solution were found to decrease with increasing size of the cage. Therefore, a rotational barrier can be designed by adjusting the length of the side chains in these molecular gyrotops. Additionally, these gyrotops were fluorescent in solution; the quantum yields and lifetimes of the fluorescence were investigated. However, these properties were not influenced by the chain length owing to a large difference in time scale between fluorescence (10(-8)-10(-9) s) and the rotational dynamics inside the cage (10°-10(-5) s).

Ultrafast optical control of group delay of narrow-band terahertz waves.

We experimentally demonstrate control over the group delay of narrow-band (quasi continuous wave) terahertz (THz) pulses with constant amplitude based on optical switching of a metasurface characteristic. The near-field coupling between resonant modes of a complementary split ring resonator pair and a rectangular slit show an electromagnetically induced transparency-like (EIT-like) spectral shape in the reflection spectrum of a metasurface. This coupling induces group delay of a narrow-band THz pulse around the resonant frequency of the EIT-like spectrum. By irradiating the metasurface with an optical excitation pulse, the metasurface becomes mirror-like and thus the incident narrow-band THz pulse is reflected without a delay. Remarkably, if we select the appropriate excitation power, only the group delay of the narrow-band THz pulse can be switched while the amplitude is maintained before and after optical excitation.