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Penfluridol inhibits melanoma growth and metastasis through enhancing von Hippel‒Lindau tumor suppressor-mediated cancerous inhibitor of protein phosphatase 2A (CIP2A) degradation.

Melanoma's high metastatic potential, especially to the brain, poses significant challenges to patient survival. The blood‒brain barrier (BBB) is a major obstacle to the effective treatment of melanoma brain metastases. We screened antipsychotic drugs capable of crossing the BBB and identified penfluridol (PF) as the most active candidate. PF reduced melanoma cell viability and induced apoptosis. In animal models, PF effectively inhibited melanoma growth and metastasis to the lung and brain. Using immunoprecipitation combined with high-resolution mass spectrometry, and other techniques such as

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… First, we analyzed the expression levels of CIP2A in normal nevus samples and melanoma in The Cancer Genome Atlas (TCGA) and found that its mRNA was upregulated in melanoma (Figure 4A ). We then extracted and analyzed multiple datasets from the Gene Expression Omnibus (GEO) database. … CIP2A mRNA levels were detected in melanoma samples, normal nevus samples, and melanoma metastasis samples. …

Management of keratinocyte carcinoma - Special considerations in the elderly.

Keratinocyte carcinomas (KCs) are now an epidemic in The United States of America, especially in elderly patients. KCs, including basal cell carcinoma and squamous cell carcinoma, can lead to disfigurement and occasionally death. However, the lower mortality rate associated with KC compared with melanoma allows for increased flexibility in the selection of treatment. Flexibility in treatment is particularly important in the elderly given that this patient population often has medical comorbidities that should be considered. These patients may have multiple KCs, higher risk tolerance to recurre

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… The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. JAMA Dermatol. 2014;150(5):542–545. doi: 10.1001/jamadermatol.2013.7444. Andrews M. Cryosurgery for common skin conditions. Am Fam Physician. 2004;69(10):2365–2372. … Intermittent vismodegib therapy in basal cell nevus syndrome. JAMA Dermatol. 2016;152(2):223–224. doi: 10.1001/jamadermatol.2015.3210. Zouboulis C.C. Cryosurgery in dermatology. Hautarzt. 2015;66(11):834–848. doi: 10.1007/s00105-015-3703-0. …

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.

X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidiscip

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… ; perilacunar osteomalacia on bone biopsy; facial features α-klotho ( KL translocation) | FGF23↑, α-klotho↑, (1,25(OH) 2 D↓), (Ca↓), PTH↑, calciuria↓ | Rickets | Macrocephaly, prominent frontal bossing, and dysplasia of the nasal bones, with exaggerated midfacial protrusion FD/MAS, linear sebaceous nevus … Matrix extracellular phosphoglycoprotein (MEPE) correlates with serum phosphorus prior to and during octreotide treatment and following excisional surgery in hypophosphatemic linear sebaceous nevus syndrome. Am J Med Genet A (2008) 146A(16):2164–8. 10.1002/ajmg.a.32395 75. …

Checking NEKs: Overcoming a Bottleneck in Human Diseases.

In previous years, several kinases, such as phosphoinositide 3-kinase (PI3K), mammalian target of rapamycin (mTOR), and extracellular-signal-regulated kinase (ERK), have been linked to important human diseases, although some kinase families remain neglected in terms of research, hiding their relevance to therapeutic approaches. Here, a review regarding the NEK family is presented, shedding light on important information related to NEKs and human diseases. NEKs are a large group of homologous kinases with related functions and structures that participate in several cellular processes such as th

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… Another disorder related to NEK9 is nevus comedonicus (NC). NC is a severe and rare skin disorder with few cases described in the literature. Commonly, it affects the face, neck or chest regions. NC is characterized by slightly elevated papules with keratinous plugs in the center. … Levinsohn et al. (2016) reported the relationship between NEK9 and Nevus Comedonicus [ 193 ]. Whole-exome sequencing was performed on DNA isolated from the tissues and blood of individuals NC101, NC102, and NC103 [ 193 ]. 11. NEK10 NEK10 is one of the least studied NEKs. …

Keyword Index for Volume 88

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… negative screening 1054 neoadjuvant 187, 1339 neoadjuvant chemotherapy 406, 1017 neoplasms 988, 1358 neoplastic cells 918 neovascularization 110 nervous system tumours 109 NESP55 1747 neuroblastoma 478, 1522, 1641, 1874 neurokinine receptor antagonists 1823 neuropilin 796 neurotoxicity 1942 nevus …

Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.

Chromosome 9p21 has been implicated in the pathogenesis of cutaneous malignant melanoma (CMM). In addition to CDKN2A, the major known high-risk susceptibility gene for CMM, recent studies suggest that other 9p21 genes may be involved in melanoma/nevi development. To identify 9p21 variants that influence susceptibility to CMM and number of nevi in CMM-prone families with and without CDKN2A mutations, we analyzed 562 individuals (183 CMM) from 53 families (23 CDKN2A+, 30 CDKN2A-) for 233 tagging SNPs in 21 genes at 9p21. Single SNP- and gene-based regression analyses were used to assess the risk

Future perspectives in melanoma research: meeting report from the "Melanoma Bridge", Napoli, December 5th-8th 2013.

The fourth "Melanoma Bridge Meeting" took place in Naples, December 5 to 8th, 2013. The four topics discussed at this meeting were: Diagnosis and New Procedures, Molecular Advances and Combination Therapies, News in Immunotherapy, and Tumor Microenvironment and Biomarkers.

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… The pathological diagnosis of melanoma can be difficult as no single histological attribute can reliably be utilized to distinguish between nevus, borderline lesions and melanoma. … These studies seek to determine whether there are genetic differences between Spitz nevus, spitzoid melanoma and atypical spitzoid tumors. …

Lessons from the skin--cutaneous features of familial cancer.

As the molecular basis of disease continues to be elucidated, familial cancer syndromes, which consist of a range of neoplastic and non-neoplastic features, are emerging. The usual pathway of referral to a genetics clinic or familial cancer centre is via an oncologist, when high-risk features that suggest a possible hereditary basis for the presenting cancer are recognised. Traditionally, these high-risk features include more than two family members with similar cancers over two or more generations, a young age of onset, and more than one synchronous or metachronous tumour. These features are

Profile of Glasdegib for the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML): Evidence to Date.

Acute myeloid leukemia (AML) is an aggressive hematologic malignancy primarily affecting older adults. Historically, the highest rates of response have been achieved with intensive induction chemotherapy; however, a significant portion of older or unfit adults with AML are unable to tolerate intensive therapy or have chemotherapy-resistant disease, creating a large need for active and less intensive treatment strategies. Glasdegib, an oral inhibitor of the transmembrane protein Smoothened (SMO) involved in the Hedgehog (Hh) signaling pathway, was approved in 2018 for older or unfit adults with

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… In 1987, the gli gene, which encodes for the transcription factors GLI-1/2/3, was found to be highly expressed in human glioma. 21 Later, in 1996, aberrant Hh signaling was linked with the formation of basal cell carcinoma in the inherited basal cell nevus syndrome. 22 Over time, deregulated Hh signaling …

Blood DNA methylation, nevi number, and the risk of melanoma.

Germline mutations determining increased cutaneous malignant melanoma (CMM) risk have been identified in familial and sporadic CMM cases, but they account only for a small proportion of CMM cases. Recent evidence suggests that germline epimutations (e.g. DNA methylation alterations), which can be inherited similarly to genomic mutations and can be detected in normal body cells (including blood), might increase susceptibility to cancer. The aim of the study was to identify germline epimutations of genes that were found to be mutated in familial CMM (p16, p14, CDK4, MC1R, hTERT), immune and infl

Cancer genetics and reproduction.

Cancers of the reproductive organs (i.e., ovaries, uterus and testes), like other cancers, occur as a result of a multi-stage interaction of genetic and environmental factors. A small proportion of cancers of the reproductive organs occur as part of a recognised cancer syndrome, as a result of inheritance of mutations in highly penetrant cancer susceptibility genes (e.g., BRCA1, BRCA2, MLH1 or MSH2). Recognition of individuals and families with inherited cancer predisposition syndromes and individuals at high risk due to familial cancer clustering is fundamentally important for the management

Skin Pigmentation Genetics for the Clinic.

Human pigmentation characteristics play an important role in the effects of sun exposure, skin cancer induction and disease outcomes. Several of the genes most important for this diversity are involved in the regulation and distribution of melanin pigmentation or enzymes involved in melanogenesis itself within the melanocyte cell present in the skin, hair and eyes. The single nucleotide polymorphisms and extended haplotypes within or surrounding these genes have been identified as risk factors for skin cancer, in particular, melanoma. These same polymorphisms have been under selective pressure

Ocular Signs and Ocular Comorbidities in Monoclonal Gammopathy: Analysis of 80 Subjects.

PURPOSE: To examine the ocular signs of monoclonal gammopathy and to evaluate ocular comorbidities in subjects with monoclonal gammopathy. Patients and Methods. We analyzed patients from two large referral hematology centers in Budapest, diagnosed and/or treated with monoclonal gammopathy between 1997 and 2020. As a control group, randomly selected individuals of the same age group, without hematological disease, have been included. There were 160 eyes of 80 patients (38.75% males; age 67.61 ± 10.48 (range: 38-85) years) with monoclonal gammopathy and 86 eyes of 43 control subjects (32.56% mal

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… dystrophy in 8 (5.00%), peripheral retinal degeneration in 7 (4.38%), corneal immunoglobulin deposition in 6 (3.75%), diabetic retinopathy in 4 (2.50%), amblyopia in 3 (1.88%), macular hole in 1 (0.63%), central retinal artery occlusion in 1 (0.63%), branch retinal vein occlusion in 1 (0.63%), choroidal nevus …

34th Европейский конгресс патологии - резюме.

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Noncoding RNAs related to the hedgehog pathway in cancer: clinical implications and future perspectives.

Cancer is a type of malignant affliction threatening human health worldwide; however, the molecular mechanism of cancer pathogenesis remains to be elusive. The oncogenic hedgehog (Hh) pathway is a highly evolutionarily conserved signaling pathway in which the hedgehog-Patched complex is internalized to cellular lysosomes for degradation, resulting in the release of Smoothened inhibition and producing downstream intracellular signals. Noncoding RNAs (ncRNAs) with diversified regulatory functions have the potency of controlling cellular processes. Compelling evidence reveals that Hh pathway, ncR

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… The heritable mutation of the Ptch gene in a rare autosomal dominant disease - nevoid basal cell nevus syndrome, commonly known as Gorlin Syndrome [ 53 ] was the first example of this sort of genetic mutation. … Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996;272:1668–1671. doi: 10.1126/science.272.5268.1668. 54. Wolter M, Reifenberger J, Sommer C, Ruzicka T, Reifenberger G. …

[Cellular and molecular mechanisms of carcinogenic side effects and resistance to BRAF inhibitors in metastatic melanoma with BRAFV600 mutation: state of the knowledge].

Cutaneous melanoma is a malignant tumor with a high metastatic potential. If an early treatment is associated with a favorable outcome, the prognosis of metastatic melanoma remains poor. Advances in molecular characterization of cancers, notably the discovery of BRAF gene mutations in metastatic melanoma, allowed to the recent development of targeted therapies against mutated BRAF protein. Despite high tumor response rates observed in clinical trials, these new drugs are associated with frequent secondary tumor resistance occurrence and paradoxical carcinogenic side effects. The cellular and m

Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.

The Hedgehog (Hh) pathway plays important roles during embryogenesis and carcinogenesis. Here, we show that ablation of the mouse Suppressor of fused (Sufu), an intracellular pathway component, leads to embryonic lethality at approximately E9.5 with cephalic and neural tube defects. Fibroblasts derived from Sufu(-/-) embryos showed high Gli-mediated Hh pathway activity that could not be modulated at the level of Smoothened and could only partially be blocked by PKA activation. Despite the robust constitutive pathway activation in the Sufu(-/-) fibroblasts, the GLI1 steady-state localization re

Decompression, an Unusual Treatment Option for Multicystic Ameloblastoma: Concepts and Controversies.

Background: The most common odontogenic tumor is the solid ameloblastoma. This is concerning due to the progressive bone destruction in its intraosseous variant; this type of pathology often gets a delayed diagnosis due to the asymptomatic characteristic it has. Objective: The aim of the article is to propose a conservative treatment for multicystic ameloblastoma, reviewing the latest concepts, controversies, and treatment options described in the literature. Case Report: A patient arrives to our department with a diagnosis of unicystic ameloblastoma, so decompression and subsequent enucleatio

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… Other syndromes in which the presence of ameloblastomas has been described are the epidermal nevus syndrome, the Gardner syndrome, the Simpson–Golabi–Behmel syndrome, and the Williams syndrome [ 7 ]. 3.5. …

Desmoplastic Trichoepithelioma: An Uncommon but Diagnostically Problematic Benign Adnexal Tumor.

Dear Editor, I read an interesting recent article by Karimzadeh et al. (1) in an earlier issue of your journal, who provided a comprehensive … ssification, no tumor-stroma clefting, absence of solar elastosis, and association with melanocytic nevus. Another set of criteria also thought to provide significant diagnostic evidence for DTE was the lack of connection of neoplastic nests to the surface epidermis, the clefts between the peritumorous stroma and the surrounding dermis, and the presence …

Tatami Mats: A Source of Pitted Keratolysis in a Martial Arts Athlete?

Dear Editor, Pitted keratolysis (PK), also known as keratosis plantaris sulcatum, is a non-inflammatory, bacterial, superficial cutaneous in … ntar keratoderma, keratolysis exfoliativa, circumscribed palmoplantar hypokeratosis, and basal cell nevus syndrome. If unrecognized and left untreated, skin findings and smelly feet can last for many years. Sometimes, if unrecognized, PK can be mistreated with antifungals, or even with aggressive treatment modalities such as cryotherapy. Appropriate tre …