Mutation characteristics of angioimmunoblastic T-cell lymphoma: an analysis of 75 cases / 中华病理学杂志

Objective: To investigate the characteristics of gene mutations in angioimmunoblastic T-cell lymphoma (AITL). Methods: Seventy-five AITL cases diagnosed at the Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China from June 2021 to June 2023 were included. Their formalin-fixed and paraffin-embedded or fresh tissues were subject to targeted next generation sequencing (NGS). The sequencing data was collected, and the distribution and type of gene mutations were analyzed. Results: 492 potential driver mutations were identified in 74 out of the 84 genes. Targeted sequencing data for the 75 AITL patients showed that the genes with mutation frequencies of ≥10% were TET2 (89.3%), RHOA (57.3%), IDH2 (37.3%), DNMT3A (36.0%), KMT2C (21.3%), PLCG1 (12.0%), and KDM6B (10.7%). There were significant co-occurrence relationships between TET2 and RHOA, TET2 and IDH2, and RHOA and IDH2 gene mutations (P<0.05), respectively, while TET2 and KDM6B gene mutations were mutually exclusive (P<0.05). Conclusions: The study reveals the mutational characteristics of AITL patients using NGS technology, which would provide insights for molecular diagnosis and targeted therapy of AITL.

Clinicopathological and prognostic features of subungual melanoma in situ / 中华病理学杂志

Objective: To investigate the clinicopathological characteristics, immunohistochemical profiles, molecular features, and prognosis of subungual melanoma in situ (SMIS). Methods: Thirty cases of SMIS were collected in Fudan University Shanghai Cancer Center, Shanghai, China from 2018 to 2022. The clinicopathological characteristics and follow-up data were retrospectively analyzed. Histopathologic evaluation and immunohistochemical studies were carried out. By using Vysis melanoma fluorescence in situ hybridization (FISH) probe kit, combined with 9p21(CDKN2A) and 8q24(MYC) assays were performed. Results: There were 8 males and 22 females. The patients' ages ranged from 22 to 65 years (median 48 years). All patients presented with longitudinal melanonychia involving a single digit. Thumb was the most commonly affected digit (16/30, 53.3%). 56.7% (17/30) of the cases presented with Hutchinson's sign. Microscopically, melanocytes proliferated along the dermo-epithelial junction. Hyperchromatism and nuclear pleomorphism were two of the most common histological features. The melanocyte count ranged from 30 to 185. Most cases showed small to medium nuclear enlargement (29/30, 96.7%). Pagetoid spread was seen in all cases. Intra-epithelial mitoses were identified in 56.7% (17/30) of the cases. Involvement of nailfold was found in 19 cases, 4 of which were accompanied by cutaneous adnexal extension. The positive rates of SOX10, PNL2, Melan A, HMB45, S-100, and PRAME were 100.0%, 100.0%, 96.0%, 95.0%, 76.9%, and 83.3%, respectively. FISH analysis was positive in 6/9 of the cases. Follow-up data were available in 28 patients, and all of them were alive without disease. Conclusions: SMIS mainly shows small to medium-sized cells. High melanocyte count, hyperchromatism, nuclear pleomorphism, Pagetoid spreading, intra-epithelial mitosis, nailfold involvement, and cutaneous adnexal extension are important diagnostic hallmarks. Immunohistochemistry including SOX10 and PRAME, combined with FISH analysis, is valuable for the diagnosis of SMIS.

Interaction between dietary cholesterol intake and the risk of gestational diabetes mellitus / 中华流行病学杂志

Objective: To investigate the influence of dietary cholesterol intake on gestational diabetes mellitus (GDM), at one year prior to and first and second trimesters of pregnancy. Methods: Between March 2012 and September 2016, the pregnant women from the First Affiliated Hospital of Shanxi Medical University were asked to fill in a set of questionnaires, by which information on general demographic characteristics, diagnosis of GDM and dietary cholesterol intake was collected. Unconditional logistic regression method was used to analyze the influence of dietary cholesterol intake on GDM, at one year prior to and first and second trimesters of pregnancy. The association on dietary cholesterol intake and GDM between age groups was also analyzed. Results: Data on 9 005 subjects, including 1 388 pregnant women with GDM, was collected. When the amount of cholesterol intake was stratified into quartile, results from the unconditional logistic regression showed that dietary cholesterol intake appeared ≥76.50 mg/d, both in the periods of one year prior to and the second trimester of pregnancy. This amount of dietary cholesterol intake would increase the risk of GDM (one year prior to pregnant: OR=1.230, 95%CI: 1.018-1.485; second trimester: OR=1.228, 95%CI:1.014- 1.486). Women who took ≥76.50 mg/d of daily cholesterol during the period of one year prior to, or 46.75-76.50 mg/d during the second trimester of pregnancy, the risks of GDM (OR=4.644, 95%CI: 1.106-19.499) would increase. Women with daily cholesterol intake over 76.50 mg/d during the period of one year prior to or at the second trimester of pregnancy, there appeared a risk on GDM (OR=1.217, 95%CI: 1.012-1.463). When maternal age was divided in two different subgroups and the cholesterol intake level was ≥76.50 mg/d both in the period of one year prior to pregnancy or at the second trimester, the risk of GDM appeared in the subgroup of<35 years old (OR=1.336, 95%CI:1.083-1.647; OR=1.341, 95%CI: 1.087-1.654). However, no significant association was found in the maternal age group of ≥35 years old. Conclusion: High level of dietary cholesterol intake would increase the risk of GDM, both in the period of one year prior to and at the second trimester of pregnancy.