Basal Cell Carcinoma

A series of replication analyses using the DeCODE pQTLs and the FinnGen GWAS, and sensitivity analyses including Steiger filtering, reverse MR, and Bayesian colocalization, supported our primary results. Our findings highlighted the possibility of prioritizing proteins for novel therapeutic or preventive targets and biomarkers for skin cancers.

P1, N=18, Recruiting, Feldan Therapeutics | Not yet recruiting --> Recruiting

These cases highlight the critical role of integrating cytological, clinical and histopathological data to navigate the diagnostic complexities of thyroid and salivary gland lesions. A multidisciplinary approach and standardized algorithms are essential for improving diagnostic accuracy and patient outcomes.

Heat- and cold-based procedures developed distinct cutaneous immune responses, with cryotherapy resulting in a delayed response compared to immediate immune responses from heat-based procedures. The substantial T cell response induced by AFL in the skin and BCC tumors indicates a potential for AFL as an adjuvant in immunotherapeutic treatments of keratinocyte cancers.

Cemiplimab is the first immune checkpoint inhibitor (ICI) approved by the Food and Drug Administration for refractory BCC, marking a major breakthrough in BCC immunotherapy. Immunotherapies have shown efficacy in clinical studies. In the future, more multicenter studies with large samples are needed to further explore the efficacy and safety of immunotherapy for BCC.

P=N/A, N=9, Terminated, University Hospital, Ghent | N=280 --> 9 | Trial completion date: Oct 2026 --> Jun 2024 | Recruiting --> Terminated | Trial primary completion date: Oct 2026 --> Jun 2024; Low recruitment

Increased expression of caspase-8 and caspase-9 was observed, indicating the activation of both extrinsic and intrinsic apoptotic pathways by PRF treatment. Although the exact immunomodulatory properties of PRF require further investigation, the results of our basic in vitro studies are promising and might provide a basis for future investigations of PRF as an adjunctive therapy for managing localized skin cancers, particularly NMSC.

Furthermore, the incidence of abnormal 53BP1 expression in cancer cells was higher than in non-neoplastic epidermal cells surrounding cancer, suggesting a correlation between the type of 53BP1 and the malignant potential of skin tumors. This study highlights the usefulness of dual-color IF for 53BP1 (and Ki-67) as an indicator to estimate the level of GIN as a long-lasting health effect of radiation exposure.

Sonidegib and vismodegib are synthetic mimetics of hedgehog pathway inhibitors that are indicated for many subtypes of advanced BCC. After eight months of hedgehog pathway inhibitor (HHI) therapy, the patient reported dramatic improvements in his BCC and complete regression of smaller BCCs previously noted on his upper extremities. The patient reported only minor adverse events including hair thinning, weight loss, and rapidly growing nails.

P1, N=18, Recruiting, University of Southern California | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2025 --> Jan 2026

This study emphasizes the importance of personalized approaches in the use of MAL-PDT, tailoring treatment according to tumor-specific characteristics. Biomarkers such as p53, β-catenin, and GLUT1 can serve as predictive tools for PDT response, helping clinicians identify patients who may benefit from alternative or combined treatments to enhance therapeutic efficacy.

Immunohistochemically, the tumour cells were positive for p63; focally positive for androgen receptor, Bcl-2, and CD10; and negative for epithelial membrane antigen and CK20. We report this rare case of BCC because of its peculiar pattern, discuss the differential diagnoses, and review the clinicopathological features of reported cases.

This study also shows the presence of mucinous adenocarcinoma components in IAC-NOS. The tumors with IAC-NOS have a relatively poorer prognosis than those without.

TRPS1 is not an entirely specific marker for breast carcinoma. TRPS1 positivity was noted in a substantial number of salivary gland malignant neoplasms. Cases demonstrating discordance in TRPS1 staining pattern on cytology-surgical correlation warrant further exploration.

However, the results did not provide evidence to support the association between antidiabetic drug targets and skin cancer. Further evaluation of these drug targets is required to confirm the findings in this analysis.

P2, N=30, Not yet recruiting, University of California, San Diego | Initiation date: Oct 2024 --> Jan 2025

Moreover, through bioinformatic approaches, we find that mEGFR LUAD demonstrates a transcriptomic profile most similar to lung basal cells, which exhibit elevated levels of PKCα, suggesting that mEGFR tumors arise in cell types with high intrinsic levels of PKCα. Taken together, these findings explain the dependence of mEGFR on PKCα.

Through gene ontology enrichment analysis, we identify known pathways involved in melanoma, actinic keratoses, and squamous cell carcinoma and uncover additional pathways. We also uncover 5 protein-coding variants, which, to our knowledge, have not been previously reported, including LRP3 for lipomas, PLCD1 for sebaceous cysts, EIF3CL for lichen planus, TTK for pilonidal cysts, and MAPK15 for systemic lupus erythematosus.

We detected a new mutation in PTCH1 gene in 2 patients with NBCCS, and both of them had ovarian mature teratomas, which are related to NM000264: exon14: c.2080C>T: p.Q694X.

A recurrence of the disease was observed in 4 (0.06%) cases. New information on cancer biomarkers in non-melanoma eyelid skin carcinoma contributes to choosing a correct therapy with achieving good aesthetic results and a good survival rate.

P=N/A, N=4000, Completed, University of British Columbia

It is concluded that PAX6 IHC is useful to identify a pancreatic origin in case of NEN metastases of unknown origin. The combination with GAD2 and PR further increase the diagnostic performance of PAX6 and results in a >98% specificity in case of positivity for at least 2 of these markers.

Patidegib Topical Gel warrants further clinical development.

There was a difference in immunohistochemical staining of HSP105 in basaloid skin tumors which helps in differential diagnosis. Differentiation between BCC, SCC, BSCC, MBCC, and BCC with squamous differentiation can be aided by immunohistochemistry using HSP105.

We identified SGK1, as a key downstream factor of Survivin, and its inhibition prevents BCC formation. This study uncovers the role and mechanisms by which Survivin regulates the competence of SCs to initiate BCC formation promoting the survival of oncogene-expressing SCs and self-renewing division while restricting differentiation and apoptosis.

P1, N=33, Not yet recruiting, Rise Therapeutics LLC | Initiation date: Sep 2024 --> Mar 2025

P2, N=77, Terminated, Regeneron Pharmaceuticals | Active, not recruiting --> Terminated; Sponsor Decision related to study drug supply

Correlative analyses suggest that most baseline high-risk disease characteristics (double-refractory disease, bulky disease, POD24, and high FLIPI) are not associated with inferior efficacy following tisagenlecleucel infusion in pts with r/r FL. Furthermore, high frequencies of MRD-negative status were achieved in a subset of evaluable pts.

Notably, our study showed that proteomes sampled with e-biopsy from cSCC and BCC lesions are different and that proteins of CRNN, SULT1E1, and ITPK1 genes are significantly overexpressed in BCC in comparison with those in cSCC. Our results provide evidence that the e-biopsy approach could potentially be used as a tool to support cutaneous lesions classification with molecular pathology.

P=N/A, N=52, Recruiting, University of Rochester | Not yet recruiting --> Recruiting

We described a case of unresectable BRCA1 L63*-mutated BCC invading the parietal bone, which was successfully treated with cisplatin and fluorouracil. Our present case suggests that comprehensive mutation analysis by gene panel testing is important in advanced BCC because genes other than those involved in the hedgehog signaling pathway can be driver genes.

P=N/A, N=3000, Not yet recruiting, University of Auckland, New Zealand

P=N/A, N=424, Not yet recruiting, Maastricht University Medical Center | Trial completion date: Dec 2024 --> Aug 2025 | Initiation date: Apr 2024 --> Nov 2024 | Trial primary completion date: Jul 2024 --> Jul 2025

DFD significantly reduced hemorrhage. DFD significantly increased the serum levels of E2 and inhibited CAMs signaling pathway, which was likely to be involved in the mechanism of action of DFD facilitating residual uterine embryo expulsion in the rat model of incomplete abortion.

Targeted next-generation sequencing suggested that MYCN and GLI2/3 amplifications and TP53 mutations might be involved in progression of these follicular tumours to BCC. Our study confirms the high prevalence of BFH, representing up to 24% of skin tumours in NBCCS and potentially being BCC precursors.

However, the combined use of β-catenin with CDX2 markers may assist in not only confirming the pilomatrical nature of the proliferation but also in differentiating benign from malignant cases when there is a significant presence of CDX2 staining. Despite these findings, the diagnosis should continue to primarily depend on a thorough histopathologic examination.

P=N/A, N=20, Recruiting, University of Wisconsin, Madison | Not yet recruiting --> Recruiting

P=N/A, N=115, Not yet recruiting, Skin Analytics Limited

The panel shows a clear difference between the non-melanocytic cancers and, on the other hand, a slight difference between the melanocytic lesions. The study of vitamin D's influence through its receptor and RXRα is an exciting issue for understanding the importance of this pathway, and the present study can impact the prevention and treatment strategies, mainly in non-melanocytic tumours.

Genomic evaluation has been performed in neoplasms from one individual with cutaneous BCC in situ and metastatic BCC; like other variants of BCC, an aberration of the PTCH1 gene was observed. In contrast to his liver metastasis, the in situ carcinoma had a lower tumor mutational burden, lacked programmed death-ligand 1 (PD-L1) and programmed death-ligand 2 (PD-L2) amplification and had a distinct PTCH1 mutation, suggesting that the in situ BCC of his skin and the metastatic BCC of his liver were derived from different clones of cells.

BCC is characterized by low immunogenicity, which hinders immune response and contributes to treatment challenges. Enhanced understanding of the epidemiology, risk factors, and pathogenesis of locally advanced BCC, along with the development of targeted therapeutic approaches such as hedgehog pathway inhibitors, is essential for effectively managing this prevalent carcinoma and improving patient outcomes.

P1, N=12, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Sep 2024 --> Sep 2025