[The preliminary application of mNGS in the diagnosis of invasive fungal sinusitis].

Objective: By conducting a retrospective analysis of the clinical data of 14 patients diagnosed with invasive fungal rhinosinusitis (IFRS) confirmed by metagenomics next generation sequencing (mNGS) technology, we aim to explore the rapid diagnosis value of mNGS in IFRS. Methods: The clinical data of 14 IFRS patients admitted to TianJin First Central Hospital were retrospectively analyzed from February 2021 to October 2023. The study cohort comprised 8 males and 6 females, with ages ranging from 14 to 77 years. All patients were diagnosed as IFRS by performing mNGS sequencing technology of nasal sinus lesion biopsy specimens. Clinical data such as laboratory examination, imaging examination, histopathological examination results, treatment plan and prognosis were summarized and analyzed. Results: All 14 patients were diagnosed as IFRS, with mNGS detecting pathogens such as Rhizopus (7 cases), Aspergillus (5 cases), Trichoderma (1 case), and Scedosporium apiospermum (1 case). Follow-up evaluations were conducted for a period ranging from 2 months to 2 years post-treatment. At the end of follow-up, 11 out of 14 IFRS patients achieved a complete cure with no signs of recurrence, while the symptoms of the remaining 3 patients significantly improved with comprehensive treatment. Conclusion: mNGS emerges as a highly effective diagnostic tool for IFRS, providing valuable microbiological evidence for clinical diagnosis and demonstrating promising clinical utility.

[Correlations of serum TgAb and TPOAb and clinicopathological features of PTC in children and adolescents].

Objective: To analyze the correlations between serum thyroglobulin antibody (TgAb) and thyroid peroxidase antibody (TPOAb) and clinicopathological features in children and adolescents with papillary thyroid carcinoma (PTC). Methods: A retrospective analysis was conduced on the clinicopathological data of children and adolescents (age≤21 years old) with PTC admitted to Tianjin Medical University Cancer Hospital from 2011 to 2019, and then, we used χ2 test or Fisher's exact probability test to compare the differences in clinicopathological characteristics between groups with different TgAb and TPOAb status and multivariate logistic regression model analysis to evaluate independent predictors of cervical lymph node metastasis. Results: A total of 304 patients, including 89 males and 215 females, aged 5-21 years (median age 19 years), were enrolled in this study. The comparison between groups with different TgAb and TPOAb status showed that there were significant differences in gender, preoperative thyroglobulin (Tg) level, primary tumor location, number of primary tumors and maximum tumor diameter (all P<0.05), which suggested that TgAb+group (n=81) and TPOAb+group (n=84) had relatively better primary tumor characteristics. Patitents with TgAb+and TPOAb+were more common in females and their preoperative Tg level was mostly within the normal range, and there were significant differences in primary tumor location, number of primary tumors and maximum tumor diameter between TgAb+and TgAb-(223 cases) groups (all P<0.05). There was significant difference in the maximum tumor diameter between TPOAb+and TPOAb-(220 cases) groups (P<0.05). Analysis of risk factors for cervical lymph node metastasis showed that independent risk factors for central lymph node metastasis were maximum tumor diameter>2 cm (OR=2.84, 95%CI: 1.59-5.07, P<0.001) and extra-thyroid extension (OR=0.32, 95%CI: 0.17-0.60, P<0.001), and independent risk factors for lateral neck lymph node metastasis included age≤14 years old (OR=0.34, 95%CI: 0.18-0.67, P=0.002), preoperative Tg+(OR=2.16, 95%CI: 1.10-4.24, P=0.026) and maximum tumor diameter>2 cm (OR=3.99, 95%CI: 2.33-6.82, P<0.001). Conclusion: It is recommended to test routinely serum TgAb and TPOAb before surgery in children and adolescents with PTC. Preoperative Tg+, age≤14 years, maximum tumor diameter>2 cm, and extra-thyroid extension are risk factors for cervical lymph node metastasis.

[Advances in studies of the genes related to thyroid carcinoma].

Thyroid carcinoma (TC) is the most common endocrine cancer and its incidence has been increasing globally over the past decades. With the development of the genetic technology, more and more evidences showed that many genes affect the biological behaviors of TC, making sense to early diagnosis, predicting the prognosis and targeted therapy for TC. BRAF mutation is specific to papillary thyroid carcinoma (PTC). It can not only predict the prognosis, but also have diagnosis value. RET rearrangements are identified as a specific genetic event in PTC. Though the preoperative detection of RET/PTC rearrangements has not proven useful in choosing the appropriate surgical management, new medications which are capable of inhibiting RET protein kinase activity may help to therapy the PTCs. RET mutation has specific meaning for detecting familial medullar thyroid carcinoma. Though RAS mutation can be discovered in follicular thyroid carcinoma (FTC), follicular variant of papillary thyroid carcinoma (FvPTC), poorly differentiated thyroid carcinoma (PDTC) and undifferentiated thyroid carcinoma (UTC), the relationship between RAS mutation and prognosis remains controversial. P53 can be detected in more invasive variants of PTC, PDTC and UTC. P53 can be used as a prognosis-predictor. Rescuing the function of mutant p53 (mutp53) protein is an attractive anticancer therapeutic strategy. 30%-35% FTC and 37.5% FvPTC have PAX8-PPARγ rearrangement, which can distinguish carcinomas from adenomas in follicular neoplasms of the thyroid. Pioglitazone may have therapeutic efficacy in patients with PPFP-positive TCs. FTC and PTC have TERT promoter mutation, usually predicting poor prognosis. Other genes also influence on the biological behavior of TC, having diagnosis value and prognostic significance. Though the gene study about TC develops rapidly, many problems remain unclear. Further studies on TC-related genes are needed.