First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome.

BACKGROUND: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease with high penetrance caused by a germline variant of TP53 gene. We report the first case of endometrial cancer after yolk sac tumor with LFS. CASE PRESENTATION: The presented female patient underwent right adnexectomy at age 23 because of a yolk sac tumor of the ovary. At the age of 27, the patient was diagnosed with endometrial adenocarcinoma, received cytoreductive surgery and chemotherapy. Given that her personal cancer history along with a strong family history of cancer, her father passing away from lung cancer at age 48 and her grandmother dying of ovarian cancer at age 50, the patient was referred for genetic counseling and testing. Genetic screening revealed a heterozygous pathogenic TP53 c.844C > T, p.( R282 W) with NM_000546.5 variant, a class 5 (C5) variant. This is the first reported case of a yolk sac tumor accompanied by subsequent endometrial cancer that is associated with LFS. CONCLUSIONS: We reported a first case of an endometrial cancer after yolk sac tumor patient with a tumor family history of harboring the germline TP53 pathogenic variation which expanded types of tumor that can be presented in patients with LFS. This case highlights the importance of genetic testing for patients with malignant tumors, as well as patients with a family history of malignant tumors. And our case highlights the necessity of screening for gynecologic tumor in LFS patients.

PCDD/F removal at low temperatures over vanadium-based catalyst: insight into the superiority of mechanochemical method.

The high toxicity and low volatility of PCDD/Fs prevent detailed study of their catalytic degradation removal characteristics. In this study, 1,2-dichlorobenzene (1,2-DCBz) was initially used as a model to investigate the catalytic characteristics of various vanadium-based catalysts prepared by different methods. Then, the optimized catalyst was used for catalytic degradation of real PCDD/Fs at low temperatures based on a self-made stable source. The VOx/TiO2 catalysts synthesized by the mechanochemical method (VTi-MC2) had a higher 1,2-DCBz removal efficiency (>85%) and stability (> 420 min) at low temperatures (< 200 °C) compared to VTi-SG (sol-gol method) and VTi-WI (wetness impregnation method). The physicochemical properties of catalysts were studied using comprehensive characterization. It was found that the VTi-MC2 has better VOx species distribution and possesses the highest V5+ species and surface adsorbed oxygen content, which are the key factors that contributed to the higher removal efficiency. Accordingly, the mechanochemical method can be used to control the physicochemical properties of catalysts by adjusting the milling parameters. The optimum ball milling time is 2 h and a suitable precursor is NH4VO3 for VOx/TiO2. Moreover, the removal efficiency and catalytic degradation efficiency of PCDD/Fs in gas phase catalyzed by VTi-MC2 were 97% and 50% respectively, within a range of temperatures below 200 °C, which are both higher than those reported research. In general, the mechanochemical strategy employed in this study provides a means for seeking more efficient catalysts used for low-temperature degradation of various trace organic pollutants.