ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Actin-Related Protein-Testis1 (ARP-T1)/ACTRT1 gene mutations cause the Bazex-Dupré-Christol Syndrome (BDCS) characterized by follicular atrophoderma, hypotrichosis, and basal cell cancer. Here, we report an ARP-T1 interactome (PXD016557) that includes proteins involved in ciliogenesis, endosomal recycling, and septin ring formation. In agreement, ARP-T1 localizes to the midbody during cytokinesis and the basal body of primary cilia in interphase. Tissue samples from ARP-T1-associated BDCS patients have reduced ciliary length. The severity of the shortened cilia significantly correlates with the ARP-T1 levels, which was further validated by ACTRT1 knockdown in culture cells. Thus, we propose that ARP-T1 participates in the regulation of cilia length and that ARP-T1-associated BDCS is a case of skin cancer with ciliopathy characteristics.

Own experience of "Glicifon" using as a local chemotherapy drug for the patients with basal-cell head&neck carcinoma

Introduction. Skin cancer is the most common type among the cancer statistics. It accounts up to 14.2 % of all types of cancer. Basal cell cancer (BCC) is the most common among the skin cancers. Despite the possibilities of using different types of treatment BCC the long-term results are infavorable-the relapse rates are still high and cosmetic results are unsufficient. Using the local chemotherapy is alternative method of head&neck BCC treatment.The study objective. Efficency analysis of using «Glycifon» as a local chemotherapy drug for head&neck BCC. Materials and methods. The study included 24 patients with head&neck BCC who underwent local chemotherapy with "Glycifon" drug. 18 (75 %) patients had primary tumors, 6 (25 %) - relapsed tumors. 7 (29.2 %) patients had multicentre BCC. All patients received local chemotherapy by "Glycifon" according to recommended instructions.Results. 79.2 % of patients had full regress of BCC after "Glycifon" local chemotherapy. Medium follow up time was 11.5 month. 2 patients (8.35) had to interrupt the treatment but for the intensive pain after the drug application. Other patients finished the therapy satisfactorily. No toxic reactions were observed. Inflammatory reactions in application zones were moderate and easily fixed. All patients who finished the therapy (100 %) we satisfied about the cosmetic results.Conclusion. Usage of "Glycifon" drug for local chemotherapy of head&neck DCC is effective, safe and cosmetic satisfied method. Possibility of using "Glycifon" in ambulatory treatment reduce the total medical & economic costs.

Assessment of the change in accuracy of an artificial intelligence algorithm for the detection of skin cancer in camera images following diversification and training

Background The US FDA recently stated in its Proposed Regulatory Framework for software as a medical device (SaMD) that “One of the greatest benefits of AI/ML in software resides in its ability to learn from real-world use and experience, and its capability to improve its performance.” This study follows two previous publications which addressed the accuracy of a machine learning algorithm for the detection of malignant melanoma. The aim of this study was to quantify the change in the accuracy following modifications to the algorithm (DERM) for the detection of non-melanoma skin cancers and potential precursors of skin cancer. A secondary aim was to assess any improvement in accuracy associated with continued training of the algorithm.Methods A total of 16,550 images of skin lesions with histopathology based assessment were available for assessment. The primary indicator of diagnostic accuracy was the area under the ROC curve with 95% confidence intervals. Sensitivity and specificity at the most efficient cut-point was also estimated together with the numbers of false negative and false positive results.Results The inclusion of squamous cell cancer, basal cell cancer and intra-epidermal carcinoma in addition to melanoma results in an improvement in the scope of the algorithm. For the most recent version of the algorithm all skin cancers show an area under the ROC curve greater than 95%. For melanoma sensitivity=91% and specificity = 89%; for all non-melanoma skin cancers sensitivity=97% and specificity=94%. Continued training of the algorithm results in a statistically significant (p<0.01) improvement in accuracy which diminishes as the ROC area approaches 100%. Conclusions The results indicate that as the algorithm is used in clinical practice it will become more accurate with continued training but the rate of improvement will diminish as the ROC area approaches 100%. A smartphone or other camera fitted with a dermoscopic lens and with internet access to the algorithm can provide an accurate additional assessment of a suspected skin cancer lesion or precursor for primary care physicians and dermatologists.

Glyciphon ointment for local treatment of basal cell cancer: clinical and pharmacological aspects

Introduction. Basal cell cancer (BCC) accounts for up to 80 % of all types of non-melanoma skin cancers. In 97 % of cases, BCC develops on bare facial skin, especially at the nose-forehead border, nose wings, corners of eyes and lips. Surgery can lead to gross cosmetic defects, therefore more and more specialists prefer conservative methods, among which local drug therapy holds a special place.The study objective is to evaluate the effectiveness and safety of glyciphon ointment for BCC local treatment as well as the economic costs. Materials and methods. The study included 114 patients who underwent BCC local drug therapy with 30 % Glyciphon ointment, where 111 (97.4 %) patients had primary BCC, and 3 (2.6 %) ones – recurrent BCC. Results. The study recorded 115 cases of use of glyciphon ointment in 114 patients. Doctors were fully satisfied with the treatment results in 101 (88.6 %) cases. In 11 (9.6 %) cases, satisfaction was partial due to severe adverse events (edema and hyperemia of the facial skin, pain), and in 2 (1.7 %) cases the treatment was found unsatisfactory. Eighty-six (93.5 %) patients with adverse events continued Glyciphon ointment therapy. The relapse rate after local drug therapy was 4.4 %, indicating its high efficacy and good tolerance. According to the study, most patients required 1 treatment course with 1 package of Glyciphon. Total cost of the treatment is approximately 17,000 rubles. Total budget expenditures are estimated at 1 billion 190 million rubles. Local BCC therapy with Glyciphon comparing to surgery may save more than 1 billion rubles for the state budget.Conclusion. Local chemotherapy with 30 % Glyciphon ointment is an effective and safe method to treat BCC. Its use increases treatment availability for patients and can significantly reduce federal expenditures.