Background: Trans and gender-diverse people with a cervix experience difficulties accessing cervical cancer screening because of structural, interpersonal, and individual barriers. Objective: The aim of this study was to explore issues with cervical cancer screening participation, awareness, and healthcare provider recommendation for trans and gender-diverse people. Methods: A national Australian survey was conducted in 2018 to 2019. Participants included 196 trans and gender-diverse people with a cervix. Data were analyzed using descriptive and multiple regression analyses. Two awareness items related to cervical cancer screening, healthcare provider recommendation, and cervical cancer screening participation were assessed. Four variables associated with cervical cancer screening were included in the regression: age, healthcare provider recommendation, like for body, and gender. Results: The sample was young; half (52.6%) were aged 20 to 24 years. Almost half (44.6%) had never had a healthcare provider recommend cervical cancer screening to them. Around half (48.0%) had never participated, with 21.9% reporting that they are regular screeners. More than a quarter (27.5%) of people who had screening had an abnormal result. The most common reasons for not participating in screening were that it is emotionally traumatic for them (55.3%) and inability to find a healthcare provider with whom they are comfortable (38.3%).Conclusions: Trans and gender-diverse Australians with a cervix are unlikely to be regular participants in cervical cancer screening. To continue reducing cervical cancer rates, healthcare providers must address underscreening in this community.Implications for Practice: Gender diversity training needs to be provided to healthcare providers. In addition, healthcare providers need to promote participation in cervical screening in this trans and gender-diverse community.
Introduction: Since 1992 the Australian Government has funded a periodic national survey of HIV and Sexually Transmissible Infection (STI) knowledge and sexual risk behavior among secondary school students. Adolescents continue to be a priority population in public health efforts to reduce rates of STIs in Australia. The purpose of the survey is to inform progress on national strategic sexual health priorities. The results are used by federal and state/territory government agencies, youth-serving community organizations and health educators to improve knowledge, promote healthy sexual behaviors and target educational efforts aimed at communicating public health messages to young people. Materials and Equipment: The 6th survey entitled the “National Survey of Secondary Students and Adolescent Sexual Health” was conducted online in 2018 among 14–18 year olds living in Australia. The anonymous self-complete survey contained up to 286 items assessing three primary domains of knowledge, behaviors and education experiences. Factual knowledge measures covered HIV transmission and STI knowledge around transmission and prevention covering gonorrhea, Chlamydia, syphilis, hepatitis, herpes, and HPV. Behavioral measures examined perceived susceptibility, peer norms, protective behaviors, age of onset for various behaviors, reasons for not being sexually active yet, and/or sexual histories with additional detail on most recent sexual event. The 6th survey was completed by 8,400 Australian adolescents a represents a broad cross-section by age, gender, year in school, type of school (e.g., government, Catholic), and state/territory which closely matched census data on these strata. The one-of-a-kind survey instrument, grounded in public health theories, may prove valuable for public health researchers. Expected Impact of the Study on Public Health: Findings from the 6th National Survey of Secondary Students and Adolescent Sexual Health will contribute important insights into current knowledge, behaviors and educational experiences of young people. Results, similar to previous iterations of the survey, will inform public health practitioners, policymakers, educators, and advocates for the sexual health and well-being of young Australians. Results may assist sexual health services to align with broader public health goals articulated in the national HIV and STI strategies aimed to reduce the burden of disease and improve the quality of sexual lives of young Australians.
BACKGROUND: Mutations in KIT are more frequent in specific melanoma subtypes, and response to KIT inhibition is likely to depend on the identified mutation. METHODS: A total of 32 patients with metastatic acral or mucosal melanoma were screened for mutations in KIT exons 11, 13 and 17. RESULTS: KIT mutations were found in 38% of mucosal and in 6% of acral melanomas. Three patients were treated with imatinib and one with sorafenib. All four patients responded to treatment, but three have since progressed within the brain. CONCLUSIONS: The observed clinical responses support further investigation of KIT inhibitors in metastatic melanoma, selected according to KIT mutation status.
Purpose: The pathogenesis and clinical heterogeneity of gastric diffuse large B-cell lymphoma (DLBCL) are poorly understood.We have comprehensively investigated the incidence and clinical significance of lymphoma-associated chromosomal translocations, particularly those involving the immunoglobulin heavy chain (IGH) gene locus, in a large series of gastric DLBCL. Experimental Design: One hundred forty-one cases of primary gastric DLBCL [58 with mucosa-associated lymphoid tissue (MALT) lymphoma and 83 without MALT lymphoma] were enrolled. Translocations involving BCL6, c-MYC, FOXP1, MALT1, and IGH were investigated using interphase fluorescence in situ hybridization. In positive cases, additional fluorescence in situ hybridization was done with appropriate probes for potential partner genes. Cases were classified into germinal center B-cell^like (GCB) or non-GCB subgroups by immunophenotyping with CD10, BCL6, and MUM1. Results: Translocations involving IGH were detected in 36 (32%) of 111 cases; their partner genes included BCL6 (n = 10), c-MYC (n = 5), and FOXP1 (n = 3) but remained unknown in the remaining 18 cases. t(14;18)/IGH-BCL2, t(14;18)/IGH-MALT1, and t(1;14)/BCL10-IGH were not detected in any case. t(11;18)/API2-MALT1 was detected in none of the cases, except for one case of DLBCL with MALT lymphoma, which showed positive signals only in MALT lymphoma cells. IGH-involved translocation was associated with younger age but not with any other clinicopathologic factors including GCB or non-GCB immunophenotypes. Cox multivariate analysis revealed that IGH-involved translocation, in addition to younger age and early stage, was an independent prognostic factor for better overall and EFSs. Conclusion: IGH-involved translocations are frequent in gastric DLBCL and seem to identify cases with favorable prognosis.Primary gastric lymphoma is the most common extranodal lymphoma (1). Histologically, the majority of gastric lymphoma comprises extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) and diffuse large B-cell lymphoma (DLBCL). In gastric MALT lymphoma, t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/ BCL10-IGH , t(14;18)(q32;q21)/IGH-MALT1 , and t(3;14) (p14;q32)/FOXP1-IGH have been identified at variable frequencies, and the clinical effect of t(11;18)(q21;q21) is wellcharacterized (1, 2). In contrast, the molecular pathogenesis of gastric DLBCL is poorly understood, although it is generally believed that many cases arise by transformation of MALT lymphoma.Across all sites, DLBCL is the most common type of nonHodgkin lymphoma. Importantly, DLBCL shows marked heterogeneity in morphology, genetics, and clinical features (3). Translocations involving the immunoglobulin heavy chain gene (IGH) locus are frequent in DLBCL and are most commonly
BackgroundThe PTEN tumour suppressor gene and PIK3CA proto-oncogene encode proteins which contribute to regulation and propagation of signal transduction through the PI3K/AKT signalling pathway. This study investigates the prevalence of loss of PTEN expression and mutations in both PTEN and PIK3CA in colorectal cancers (CRC) and their associations with tumour clinicopathological features, lifestyle factors and dietary consumptions.Methods186 adenocarcinomas and 16 adenomas from the EPIC Norfolk study were tested for PTEN and PIK3CA mutations by DNA sequencing and PTEN expression changes by immunohistochemistry. Dietary and lifestyle data were collected prospectively using seven day food diaries and lifestyle questionnaires.ResultsMutations in exons 7 and 8 of PTEN were observed in 2.2% of CRC and PTEN loss of expression was identified in 34.9% CRC. Negative PTEN expression was associated with lower blood low-density lipoprotein concentrations (p = 0.05). PIK3CA mutations were observed in 7% of cancers and were more frequent in CRCs in females (p = 0.04). Analysis of dietary intakes demonstrated no link between PTEN expression status and any specific dietary factor. PTEN expression negative, proximal CRC were of more advanced Dukes' stage (p = 0.02) and poor differentiation (p < 0.01). Testing of the prevalence of PIK3CA mutations and loss of PTEN expression demonstrated that these two events were independent (p = 0.55).ConclusionThese data demonstrated the frequent occurrence (34.9%) of PTEN loss of expression in colorectal cancers, for which gene mutations do not appear to be the main cause. Furthermore, dietary factors are not associated with loss of PTEN expression. PTEN expression negative CRC were not homogenous, as proximal cancers were associated with a more advanced Dukes' stage and poor differentiation, whereas distal cancers were associated with earlier Dukes' stage.
ROHHAD), is a severe pediatric disorder of uncertain etiology resulting in hypothalamic dysfunction and frequent sudden death. Frequent co-occurrence of neuroblastic tumors have fueled suspicion of an autoimmune paraneoplastic neurological syndrome (PNS); however, specific anti-neural autoantibodies, a hallmark of PNS, have not been identified. Our objective is to determine if an autoimmune paraneoplastic etiology underlies ROHHAD. Methods: Immunoglobulin G (IgG) from pediatric ROHHAD patients (n = 9), non-inflammatory individuals (n = 100) and relevant pediatric controls (n = 25) was screened using a programmable phage display of the human peptidome (PhIP-Seq). Putative ROHHAD-specific autoantibodies were orthogonally validated using radioactive ligand binding and cell-based assays. Expression of autoantibody targets in ROHHAD tumor and healthy brain tissue was assessed with immunohistochemistry and mass spectrometry, respectively. Results: Autoantibodies to ZSCAN1 were detected in ROHHAD patients by PhIP-Seq and orthogonally validated in 7/9 ROHHAD patients and 0/125 controls using radioactive ligand binding and cell-based assays. Expression of ZSCAN1 in ROHHAD tumor and healthy human brain tissue was confirmed. Interpretation: Our results support the notion that tumor-associated ROHHAD syndrome is a pediatric PNS, potentially initiated by an immune response to peripheral neuroblastic tumor. ZSCAN1 autoantibodies may aid in earlier, accurate diagnosis of ROHHAD syndrome, thus providing a means toward early detection and treatment. This work warrants follow-up studies to test sensitivity and specificity of a novel diagnostic test. Last, given the absence of the ZSCAN1 gene in rodents, our study highlights the value of human-based approaches for detecting novel PNS subtypes.
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