Construction and validation of nomogram prognostic model for predicting survival in hepatoblastoma patients: a population-based study.

For patients with hepatoblastoma (HB), current staging system is not accurate in predicting survival outcomes. The aim of this study was to develop two accurate survival prediction models to guide clinical decision making. A retrospective analysis of 424 HB patients was performed from 2004 to 2015 using the Surveillance, Epidemiology and End Results (SEER) database. Univariate and multivariate Cox regression analysis was used to screen for variables. The identified variables were used to build survival prediction model. The performance of the nomogram models was assessed based on the concordance index (C-index), calibration plot, and receiver operating characteristic (ROC) curve. The Cox regression analysis identified six variables affecting overall survival (OS) in HB patients, including race, tumor size, lymph node involvement, distant metastases, surgery and chemotherapy. And the Cox regression analysis identified five variables including race, lymph node involvement, distant metastases, surgery, and chemotherapy that affect cancer-specific survival (CCS) in HB patients. In the training cohort, the C-index of the nomogram in predicting the OS was 0.791 [95% confidence intervals (95% CI) 0.717-0.865], CSS was 0.805(95% CI 0.728-0.882). In the validation cohort, the C-index of the nomogram in predicting the OS was 0.712 (95% CI 0.511-0.913), the CSS was 0.751 (95% CI 0.566-0.936). In the training cohort, the area under the receiver operator characteristics curve (AUC) values of the nomogram in prediction of the 1-, 3-, and 5-year OS were 0.842 (95% CI 0.739-0.944), 0.759 (95% CI 0.670-0.849), and 0.770 (95% CI 0.686-0.852), respectively. In the validation cohort, the AUC values for prediction of the 1-, 3-, and 5-year OS were 0.920 (95% CI 0.806-1.034), 0.863 (95% CI 0.750-0.976), and 0.844 (95% CI 0.721-0.967), respectively. Two nomogram models were developed and validated in this study which provided accurate prediction of the OS and CSS in HB patients. The constructed models can be used for predicting survival outcomes and guide treatment for HB patients.

Comparing overall survival between pediatric and adult retinoblastoma with the construction of nomogram for adult retinoblastoma: A SEER population-based analysis.

BACKGROUND: Retinoblastoma (RB) is a rare primary malignant tumor primarily affecting children. Our study aims to compare the overall survival (OS) between pediatric and adult RB patients and establish a predictive model for adult RB patients' OS to assist clinical decision-making. METHODS: This study retrospectively analyzed data from 1938 RB patients in the Surveillance, Epidemiology, and End Results (SEER) database, covering the period from 2000 to 2015. Propensity score matching (PSM) ensured balanced characteristics between pediatric and adult groups. A Cox proportional hazards regression model was used to assess prognostic factors, and selected variables were utilized to construct a predictive survival model. The Nomogram model's performance was evaluated through the C-index, time-dependent ROC curves, calibration curves, and decision curve analysis (DCA). RESULTS: Following PSM, adult RB patients had lower OS compared to pediatric RB patients. Independent prognostic factors for adult RB OS included age, gender, disease stage, radiation therapy, income, and diagnosis confirmation. In the training cohort, the Nomogram achieved a C-index for OS of 0.686 and accurately predicted 2-year, 3-year, and 5-year OS with AUC values of 0.672, 0.680, and 0.660, respectively. The C-index, time-dependent ROC curves, calibration curves, and DCA in both training and validation cohorts confirmed the Nomogram's excellent performance. CONCLUSION: In this study, adult RB patients have worse OS than pediatric RB patients. Consequently, we constructed a Nomogram to predict the risk for adult RB patients. The Nomogram demonstrated good accuracy and reliability, making it suitable for widespread application in clinical practice to assist healthcare professionals in assessing patients' prognoses.

Comparison of surgical excision followed by adjuvant radiotherapy and laser combined with steroids for the treatment of keloids: A systematic review and meta-analysis.

This meta-analysis aims to evaluate and compare the effect of surgical excision followed by adjuvant radiotherapy and laser combined with steroids on keloids. Relevant studies reporting the recurrence rate or incidence of adverse events (AEs) were retrieved from the PubMed, Web of Science, Embase and Cochrane Library databases through August 2023. The quality of noncomparative single-arm clinical trials was evaluated using the methodological index for nonrandomised studies (MINORS) Methodological items. This meta-analysis was conducted utilizing Stata 12.0 statistical software. 26 studies involving 989 patients were included in the analysis. The recurrence rate in the laser combined with steroids therapy group (12.2%, 95% confidence interval [CI]: 5.9%-18.5%) was lower than that of the surgical excision combined with radiotherapy group (13.5%, 95% CI: 6.6%-22.2%). For the incidence of AEs, relatively low incidence of atrophy (0.0%, 95% CI: 0.0%-1.2%), telangiectasia (3.2%, 95% CI: 0.4%-7.6%), erythema (2.3%, 95% CI: 0.0%-10.6%), infection (0.2%, 95% CI: 0.0%-1.6%) and high hyperpigmentation rate (8.3%, 95% CI: 4.2%-13.4%) were obtained in the surgical excision combined with radiotherapy group. Compared with surgical resection followed by radiotherapy, the combination of laser and steroids for keloids showed a lower hyperpigmentation rate (6.5%), as well as a higher incidence of atrophy (22.7%), telangiectasia (6.4%), erythema (3.3%) and infection (3.3%). Only a hypopigmentation rate of 2.9% was obtained in patients treated with surgical excision plus radiotherapy. Current evidence revealed that surgical excision followed by adjuvant radiotherapy and laser combined with steroids therapy were effective and safe treatments for keloids, with relatively low recurrence rate and complication rate. Comparative studies are needed to further compare the effects of these two combination therapies on keloids.

Risk prediction for <1 cm lateral lymph node metastasis in papillary thyroid microcarcinoma.

Background: Because the diameter of the suspicious lymph nodes is less than 1 cm and adjacent to important structures in the neck, the diagnosis of small LLNM is important but difficult without the help of fine needle aspiration (FNA). There are no relevant reports of risk factors that predict the risk of suspicious <1 cm LLNM. Methods: A total of 159 PTMC patients with suspicious <1 cm LLNM were included in the study. Multivariate logistic regression analysis was used to identify ultrasound independent predictors of LLNM. A predictive model was developed according to multivariate logistic regression and evaluated by Hosmer-Lemeshow fit test. Results: Age ≤ 38 years old, the largest PTMC was located in the upper part, and the presence of liquefaction or microcalcification in suspicious lymph nodes were independent risk factors for LLNM (univariate analysis P = 0.00, 0.00, 0.00; multivariate analysis P = 0.00, 0.02, 0.00. OR = 4.66 [CI: 1.78-12.21], 3.04 [CI: 1.24-7.46], 6.39 [CI: 1.85-22.00]). The predictive model for the diagnosis of suspicious <1 cm lymph nodes was established as: P = ex/(1 + ex). X = -1.29 + (1.11 × whether the largest tumor is located in the upper part) + (1.54 × whether the age is ≤ 38 years) + (1.85 × whether the suspicious lymph nodes have liquefaction/microcalcification). The Hosmer-Lemeshow fit test was used to test the predicted ability, and it found that the predictive model had a good fit and prediction accuracy (X2 = 6.214, P = 0.623 > 0.05). Chi squared trend analysis showed that the increase in the number of risk factors gradually increased the malignancy possibility of suspicious <1 cm lymph nodes (chi squared trend test, P = 0.00). Conclusions: Age ≤ 38 years old, the largest PTMC located in the upper part, and the presence of liquefaction or microcalcification in suspicious lymph nodes were independent risk factors for suspicious <1 cm LLNM in PTMC patients. Our result show that it is feasible to evaluate the malignant possibility of these lymph nodes using the number of risk factors.

PM-bound polycyclic aromatic compounds (PACs) in two large-scale petrochemical bases in South China: Spatial variations, sources, and risk assessment.

Polycyclic aromatic compounds (PACs) are potential pollutants emitted from the petrochemical industry, whereas their occurrence and sources in petrochemical regions are still poorly known. The present study revealed the spatial variations, compositional profiles, sources and contributions, and health risks of PM-bound PACs in two large-scale petrochemical bases (GDPB and HNPB) in South China. The concentrations of parent polycyclic aromatic hydrocarbons (PAHs) were 7.14 ± 3.16 ng/m3 for ∑18PAHs and 0.608 ± 0.294 ng/m3 for the PAHs with molecular weight of 302 amu (MW302 PAHs) in the GDPB base and 2.55 ± 1.26 ng/m3 and 0.189 ± 0.088 ng/m3 in the HNPB base. Oxygenated PAHs (OPAHs) showed comparable concentrations to the parent PAHs in both the bases and nitrated PAHs (NPAHs) had the lowest mean levels (260 pg/m3 and 59.4 pg/m3 in the two regions). Coronene, 2,8-dinitrodibenzothiophene, and dibenzo[a,e]fluoranthene showed remarkably higher contributions to the PAC and can be PAC markers of the petrochemical industry source. Five sources of PACs were identified respectively in both petrochemical bases by the positive matrix factorization (PMF) model. The vehicle (and ship) traffic exhaust was the primary source of PACs (contributed 33% to the ∑PACs), and the sources related to the coking of coal and heavy petroleum and refinery exhaust were identified in both bases, with contributions of 10-20%. PACs in GDPB also contributed from secondary atmospheric reactions (17.3%) and the usage of sulfur-containing fuels (20.9%), while the aromatics industry made a significant contribution (20.1%) to the PACs in the HNPB region. The cumulative incremental lifetime cancer risks (ILCRs) induced by inhalation of PM-bound PACs in both petrochemical bases were low (10-8-10-6). For the sources related to the petrochemical industry, coking activities and the aromatic industry were the significant contributors to the ∑ILCRs in GDPB and HNPB, respectively. This research has implications for further source-targeted control and health risk reduction of PACs in petrochemical regions.

A novel lnc-LAMC2-1:1 SNP promotes colon adenocarcinoma progression by targeting miR-216a-3p/HMGB3.

Single nucleotide polymorphisms (SNPs) was associated with altering the secondary structure of long non-coding RNA (lncRNA). Increasing reports showed that lnc-LAMC2-1:1 SNP played an important role in cancer development and invasion. This study is to elucidate the molecular function of lnc-LAMC2-1:1 SNP rs2147578 promoting tumor progression in colon adenocarcinoma (COAD). In this study, we found that the lnc-LAMC2-1:1 SNP rs2147578 was upregulated in COAD cell lines. Furthermore, lnc-LAMC2-1:1 SNP rs2147578 promoted colon cancer migration, invasion, and proliferation. Interestingly, lnc-LAMC2-1:1 SNP rs2147578 positively regulated HMGB3 expression via miR-216a-3p in colon cancer cells. Functional enrichment analysis showed that targeting genes of miR-216a-3p were enriched in regulating the pluripotency of stem cells, MAPK signaling pathway, TNF signaling pathway, neurotrophin signaling pathway, relaxin signaling pathway, and FoxO signaling pathway. Tumor Immune Estimation Resource (TIMER) database revealed that there was a significantly positive correlation between HMGB3 expression and the infiltration of CD8+ T cells, B cells, neutrophils, macrophages, and CD4+ T cells. Finally, HMGB3 overexpression was validated in external data. In conclusions, lnc-LAMC2-1:1 SNP rs2147578 was involved in promoting COAD progression by targeting miR-216a-3p/HMGB3, and this study will provide a novel molecular target for COAD.

A Novel Peptide from Polypedates megacephalus Promotes Wound Healing in Mice.

Amphibian skin contains wound-healing peptides, antimicrobial peptides, and insulin-releasing peptides, which give their skin a strong regeneration ability to adapt to a complex and harsh living environment. In the current research, a novel wound-healing promoting peptide, PM-7, was identified from the skin secretions of Polypedates megacephalus, which has an amino acid sequence of FLNWRRILFLKVVR and shares no structural similarity with any peptides described before. It displays the activity of promoting wound healing in mice. Moreover, PM-7 exhibits the function of enhancing proliferation and migration in HUVEC and HSF cells by affecting the MAPK signaling pathway. Considering its favorable traits as a novel peptide that significantly promotes wound healing, PM-7 can be a potential candidate in the development of novel wound-repairing drugs.

Enhanced hair growth effects through low-level vortex beams radiation: An experimental animal study.

Photobiomodulation therapy (PBMT) is a non-invasive and pain-less treatment for hair loss. Researches on PBMT rarely considered the impact of different light structures. In this study, we irradiated shaven rats with both 650 nm, m = 32 vortex beams and ordinary Gaussian beams. The laser treatment was performed at 24-hour intervals for 20 days. The energy density was set to 4.25 J/cm2 . The results indicated that low-level vortex beam irradiation led to better stimulation of hair growth than the Gaussian beams, which might be related to deeper penetration. The underlying biological mechanisms are discussed in terms of the activation of Wnt/ß-catenin/sonic hedgehog pathway. Our results suggest that low-level vortex beam irradiation is advantageous to the treatment of hair loss because it is technically feasible, convenient and effective.

Effect of miR-129-3p on autophagy of interstitial cells of Cajal in slow transit constipation through SCF C-kit signaling pathway.

OBJECTIVE: To explore the mechanism by which miR-129-3p affected the autophagy of interstitial cells of Cajal (ICCs) in slow transit constipation tissues through the SCF C-kit signaling pathway. METHODS: Colon samples from 20 Slow transit constipation (STC) patients who underwent total colectomy plus ileorectal anastomosis or subtotal colon resection plus anti-peristaltic rectal anastomosis were collected in our hospital. The colon of 20 non-STC patients was used as control. The control of this study was 20 patients undergoing radical surgery for colon cancer (left colon cancer) in our hospital. Fifty healthy SPF Kunming mice were purchased from Liaoning Changsheng Biotechnology Co., Ltd. RESULTS: The mRNA expression of miR-129-3p in the STC group was lower than that in the control group (CTLR) group (P<0.05). The mRNA expression of miR-129-3p in STC group was lower than that in the NC group (P<0.05), and mRNA expression in STC+miR-129-3p group was higher than that in STC+miR-NC group (P<0.05). In the first week, the weight of dry and wet feces of the STC group was lower than that of the NC mice (P<0.05), and the weight of dry feces and wet feces of the STC group was lower than that of the NC group at the 2, 3, and 4 weeks, STC+miR-129 -3p was higher than that in the STC group (P<0.05). CONCLUSION: The increased expression of C-kit and SCF regulated by miR-129-3p contributed to the protection of interstitial cells. Knockdown of miR-129-3p expression could inhibit the activation of AKT/mTOR signaling pathway, reduce cell proliferation activity.

Single-Cell Transcriptome Analysis Reveals Mesenchymal Stem Cells in Cavernous Hemangioma.

A cavernous hemangioma, well-known as vascular malformation, is present at birth, grows proportionately with the child, and does not undergo regression. Although a cavernous hemangioma has well-defined histopathological characteristics, its origin remains controversial. In the present study, we characterized the cellular heterogeneity of a cavernous hemangioma using single-cell RNA sequencing (scRNA-seq). The main contribution of the present study is that we discovered a large number of embryonic mesenchymal stem cells (MSCs) in a cavernous hemangioma and proposed that cavernous hemangiomas may originate from embryonic MSCs. Further analysis of the embryonic MSCs revealed that: 1) proinflammatory cytokines and related genes TNF, TNFSF13B, TNFRSF12A, TNFAIP6, and C1QTNF6 are significantly involved in the MSC-induced immune responses in cavernous hemangiomas; 2) UCHL1 is up-regulated in the embryonic MSC apoptosis induced by proinflammatory cytokines; 3) the UCHL1-induced apoptosis of MSCs may play an important role in the MSC-induced immune responses in cavernous hemangiomas; and 4) UCHL1 can be used as a marker gene to detect embryonic MSCs at different apoptosis stages. In addition to MSCs, ECs, macrophages, T lymphocytes and NKCs were intensively investigated, revealing the genes and pathways featured in cavernous hemangiomas. The present study revealed the origin of cavernous hemangiomas and reported the marker genes, cell types and molecular mechanisms, which are associated with the origin, formation, progression, diagnosis and therapy of cavernous hemangiomas. The better understanding of the MSC-induced immune responses in benign tumours helps to guide future investigation and treatment of embryonic MSC-caused tumours. Our findings initiated future research for the rediscovery of MSCs, cancers/tumours and the UCHL1-induced apoptosis.

Based on Network Pharmacology and Gut Microbiota Analysis to Investigate the Mechanism of the Laxative Effect of Pterostilbene on Loperamide-Induced Slow Transit Constipation in Mice.

Background: Pterostilbene (PTE) is a natural polyphenol compound that has been proven to improve intestinal inflammation, but its laxative effect on slow transit constipation (STC) has never been studied. This study aims to investigate the laxative effect of PTE on loperamide (LOP)-induced STC mice and its influence on intestinal microbes through a combination of network pharmacological analysis and experimental verification. Material and Methods: PTE was used to treat LOP-exposed mice, and the laxative effect of PTE was evaluated by the total intestinal transit time and stool parameters. The apoptosis of Cajal interstitial cells (ICCs) was detected by immunofluorescence. The mechanism of PTE's laxative effect was predicted by network pharmacology analysis. We used western blot technology to verify the predicted hub genes and pathways. Malondialdehyde (MDA) and GSH-Px were tested to reflect oxidative stress levels and the changes of gut microbiota were detected by 16S rDNA high-throughput sequencing. Results: PTE treatment could significantly improve the intestinal motility disorder caused by LOP. Apoptosis of ICCs increased in the STC group, but decreased significantly in the PTE intervention group. Through network pharmacological analysis, PTE might reduce the apoptosis of ICCs by enhancing PI3K/AKT and Nrf2/HO-1 signaling, and improve constipation caused by LOP. In colon tissues, PTE improved the Nrf2/HO-1 pathway and upregulated the phosphorylation of AKT. The level of MDA increased and GSH-Px decreased in the STC group, while the level of oxidative stress was significantly reduced in the PTE treatment groups. PTE also promoted the secretion of intestinal hormone and restored the microbial diversity caused by LOP. Conclusion: Pterostilbene ameliorated the intestinal motility disorder induced by LOP, this effect might be achieved by inhibiting oxidative stress-induced apoptosis of ICCs through the PI3K/AKT/Nrf2 signaling pathway.

Role of CD47 in tumor immunity: a potential target for combination therapy.

CD47 performs a vital function in cancer therapy by binding to different SIRPα, thrombospondin 1, and integrin. However, its role in tumor immunity and its correlation with prognosis among many cancer types remain unknown. The raw mRNA expression data of CD47 in cancer patients was downloaded from TCGA and GTEx datasets. The protein expression of CD47 was detected using a microarray. Kaplan Meier analysis and forest plot were performed to compare the effects of high and low expression of CD47 on overall survival in different cancers. In addition, the correlations between CD47 expression and immune cell infiltration, stromal components, immune checkpoint genes, tumor mutational burden (TMB), and microsatellite instability (MSI) were analyzed from the public database. The gene function was determined by Gene Set Enrichment Analysis (GSEA). The expressions of CD47 in CHOL, COAD, ESCA, HNSC, KIRC, STAD, and THCA were higher compared with normal tissues. Elevated expression of CD47 predicted poor prognosis in ACC, KICH, KIRP, LGG, PAAD and UCEC. CD47 expression was strongly associated with immune infiltrating cells among KICH, KIRP, LGG, and PAAD. In addition, significant positive correlations with most immune checkpoint genes including PDCD 1 (PD-1), CD274 (PD-L1), CTLA4 in BLCA, DLBC, KICH, KIRC, LUAD, LUSC, PAAD, PCPG, SKCM, STAD, UCEC, and UVM was noted for the expression of CD47. GSEA analysis demonstrated that CD47 was a key regulator in metabolism-related pathways. These findings provide novel evidence that CD47 could be utilized as a promising prognostic biomarker and combination treatment target in various cancers.

Bioinspired Porous Anodic Alumina/Aluminum Flake Powder for Multiband Compatible Low Detectability.

Continuous development and advancement in modern detection technologies have increased the demand for multiband (e.g., visual and infrared) compatible camouflage. However, challenges exist in the requirements of incompatible structure resulting from the adaptation to different camouflage effects. This study is inspired by the light absorption structure of butterfly wing scales and demonstrates a porous anodic alumina/aluminum flake powder material prepared by a microscopic powder anodic oxidation technique for visual and infrared camouflage. The fabricated structures manipulate a compromise condition for visual camouflage by low reflectance (R̅400-800nm = 0.32) and dual-band infrared camouflage by low emission (ε̅3-5µm = 0.081 and ε̅8-14µm = 0.085). Further, the characteristic of short-range disorder in these bioinspired structures allows maintenance of the camouflage performance under omnidirectional detection (0-60°). This study provides new insight and a feasible method for coordinated manipulation of electromagnetic waves via bioinspired structural design and improved fabrication.

Modified layered hand-sewn cervical end-to-side anastomosis for minimally invasive McKeown esophagectomy.

BACKGROUND: Minimally invasive McKeown esophagectomy (MIE McKeown) with cervical anastomosis is a widely used approach for the treatment of esophageal cancer (EC). Anastomotic leak is one of the most serious complications following esophagectomy. This study aimed to summarize the anastomosis procedure and assess the clinical outcomes of our modified layered hand-sewn cervical end-to-side anastomosis for cervical anastomosis during MIE McKeown. METHODS: We retrospectively reviewed clinical data of 508 consecutive EC patients who underwent MIE McKeown using the modified layered hand-sewn cervical end-to-side anastomosis between June 2016 and June 2020. RESULTS: The incidence of anastomotic leakage in our cohort was 2.0%. The postoperative stricture rate was 6.9% and the incidence of other postoperative complications was less than 9.3%. The mean time for setting up MIE McKeown was approximately 211.0 min and the average duration of postoperative hospital stay was 9.1 days. CONCLUSION: This modified layered hand-sewn cervical end-to-side anastomosis is a safe and effective method for MIE McKeown with a low incidence of anastomotic leakage, anastomotic stricture, or other postoperative complications.

Wilms' tumor 1-associating protein contributes to psoriasis by promoting keratinocytes proliferation via regulating cyclinA2 and CDK2.

BACKGROUND: Wilms' tumor 1-associating protein (WTAP) is a ubiquitously expressed nuclear protein, and involved in multiple pathophysiological processes, including cell cycle, RNA splicing and stabilization, N6-methyladenosine RNA modification, cell proliferation, and apoptosis as well as embryonic development. Here, we investigated the specific role of WTAP in the pathogenesis of psoriasis and its underlying mechanism. METHODS: Reverse transcription-quantitative polymerase chain reaction (RT-qPCR), western blot analyses and multi-spectrum immunohistochemistry were applied to evaluate the level of WTAP expression in psoriatic skin and normal skin. HaCaT cells was stably transfected with WTAP small interfering (si)RNA and plasmid using Lipofectamine®2000 and proliferation was determined by CCK8. Apoptosis and cell cycle analysis were conducted by flow cytometry. Western blot assay was used to explore the expression levels of cell cycle-related proteins in HaCaT cells after WTAP overexpression or inhibition. Furthermore, HaCaT cells were stimulated with proinflammatory cytokines (ie, IL-17A, IL-22, IL-1a, oncostatin M, and TNF-a) to assess WTAP expression. RESULTS: We demonstrated that the mRNA and protein levels of WTAP were significantly increased in lesional skins of psoriasis patients and psoriatic cell model compared with normal controls. WTAP was highly expressed in epidermis rather than dermis. Overexpression of WTAP promoted keratinocytes proliferation, which might be related to the up-regulation of cyclinA2 and CDK2. CONCLUSIONS: These results indicate that overexpression of WTAP may contribute to the pathogenesis of psoriasis by regulating cell cycle progression and highlight WTAP as a potential therapeutic target for psoriasis treatment.

Comparative Analysis of Two Automated Fat-processing Systems.

Plastic surgeons desire more efficient methods of processing lipoaspirate when performing fat grafting procedures. We compared, in a preclinical study, the quantity and quality of lipoaspirate processed by a novel Poloxamer Wash, Absorption, mesh filtration System (PWAS) to a frequently used Ringer's Lactate wash, Decant, and mesh filtration System (RLDS). METHODS: Lipoaspirate from 10 patients was processed with the RLDS and PWAS systems. The processed lipoaspirate from each device was centrifuged to quantify the amount of fat, free oil, and aqueous components remaining in the fat graft. A trypan blue dye exclusion test assessed cell viability. The processing time for the lipoaspirate was also measured. RESULTS: The 10-patient average fat volume processed and available for grafting was similar using both systems. The adipose volume fraction of PWAS was greater (89% ± 3%) than RLDS (76% ± 10%, P = 0.02). The trypan blue exclusion values and processing time were similar for both systems. Oil was efficiently removed from the lipoaspirate, and both systems processed fat efficiently. CONCLUSION: The PWAS effectively cleans lipoaspirate with increased fat concentration.

A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome.

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and basal cell carcinomas (BCC) and accompanied by diverse phenotypes. The establishment of diagnosis lies on the identification of a heterozygous germline pathogenic variant in the patched homolog 1 gene (PTCH1). PTCH1 has alternative splicing and selective initial coding exon, leading to three types of encoding proteins (PTCHL, PTCHM and PTCHS). The expression of each protein in NBCCS remains ambiguous, especially the importance of the first two exons in translation. Here, we report a Chinese NBCCS family of a novel PTCH1 heterozygous mutation (IVS 2, c.394+1G>T, g.10652G>T) identified by genomic sequencing and reverse-transcription-PCR as aberrant splicing. To the best of our knowledge, this is the first report of NBCCS with a splicing site mutation in intron 2 resulting in exon 2 skipping. Our finding suggests that exon 2 plays an important role in the development of NBCCS and further speculates that the role of longer isoforms PTCHL and PTCHM is crucial in NBCCS, while that of short isoform PTCHS might be dispensable.

A rare case report for dermatomyofibroma in nasion.

Dermatomyofibroma is a benign and rare proliferation of myofibroblasts and fibroblasts of the skin. Dermatomyofibroma commonly locates at the shoulder and neck of young adults and adolescents. Other frequently affected anatomic sites are upper arms, thigh, chest wall, back, axillary region and abdomen. Herein, we reported a case of dermatomyofibroma occurred in the nasion. The asymptomatic firm nodule and histopathological features were consistent with dermatomyofibroma. Immunohistochemically, the tumor cells expressed vimentin, HHF35 and α-smooth muscle actin (α-SMA). The patient was followed up for 2 years after excision of the tumors and recurrences were not observed.