Jianchu Li

Endometrial stromal sarcoma with intracardiac extension through inferior vena cava

PIK3R1 acts as a prominent biomarker for tumor immune microenvironment modulation in intravenous leiomyomatosis

In current clinical practice, intravenous leiomyomatosis (IVL) can be surgically resected using either one-step or two-step approach. However, several challenges persist, including a high rate of postoperative recurrence, the difficulty in achieving complete resection in complex cases, and the inability to timely identify a substantial number of early-stage IVL cases. The mainstream theory regarding the pathogenesis and development mechanism of IVL is that it originates from uterine leiomyomas, yet the specific molecular mechanisms underlying this process remain to be elucidated. In this study, high-throughput transcriptome sequencing and molecular detection methods such as immunohistochemistry were employed to analyze the molecular expression differences at the transcriptome and immune microenvironment levels between 5 cases of IVL and paired uterine leiomyomas. These findings were subsequently validated in a cohort consisting of 45 IVL cases. The cross-enrichment analysis of differentially expressed genes (DEGs) at the transcriptome and immune level in paired samples yielded significant results. Notably, the up-regulated gene PIK3R1 and the down-regulated gene BMP4 emerged as two of the most critical representatives. Further investigation into the function of the PIK3R1 gene in IVL and its relationship with the immune microenvironment revealed that this gene was highly expressed in IVL and positively correlated with the abundance of plasma cells, while negatively correlated with follicular helper T cells and resting dendritic cells. The overall immune microenvironment of IVL was inactive, leading to tumor cells being less likely to be recognized and eliminated by immune cells. This study has conducted an in-depth analysis of the molecular expression, immune microenvironment characteristics, and related mechanisms of IVL. Further studies on larger cohort are warranted to demonstrate the potential value of inhibiting PIK3R1 as the adjuvant medicine for IVL therapy.

Clinical and ultrasound characteristics of virilizing ovarian tumors in pre- and postmenopausal patients: a single tertiary center experience

Abstract Background A virilizing ovarian tumor (VOT) is a rare cause of hyperandrogenism in pre- and postmenopausal women. Although transvaginal ultrasound is considered as the first-line imaging method for ovarian tumors, it is examiner-dependent. We aimed to summarize the clinical and ultrasound manifestations of VOTs to help establish the diagnosis with emphasis on those causing diagnostic difficulty. Method We retrospectively identified 31 patients with VOTs who underwent surgery at Peking Union Medical College Hospital. Results Patients with VOTs were predominantly premenopausal. All patients showed androgenic manifestations with serum testosterone levels elevated to varying degrees. The tumor size of VOTs was significantly correlated with age (P < 0.001). The VOTs in the postmenopausal group were significantly smaller than those in the premenopausal group (median 1.8 cm [range, 1.3–4.8 cm] vs 4.5 cm [range, 0.7–11.9 cm]; P = 0.018). Twenty-seven out of 31 VOTs were successfully identified by ultrasound. On ultrasound, VOTs are mostly solid and hypoechoic masses with enhanced vascularity. Four VOTs (0.7–1.5 cm) were radiologically negative, and they were the smallest among all patients. Conclusion Patients with VOTs showed androgenic manifestations with varying degrees of hyperandrogenemia. Older patients tend to have smaller VOTs. Ultrasound is an effective method for the detection of VOTs. Some VOTs can be very small and difficult to visualize radiologically, especially in postmenopausal patients. Examiners must remain vigilant about very small VOTs on the basis of endocrine symptoms.