Vaginal melanoma in Denmark from 1980 to 2018: A population-based study based on genetic profile and survival.

Objective: To investigate the clinical, pathological, and genetic characteristics of patients with vaginal melanoma in a nationwide setting.

Materials/methods: All patients diagnosed with vaginal melanoma from 1980 to 2018 were collected by searching the digital archives of the Danish Registry of Pathology (Patobank). Patient specimens were examined, the histological diagnoses were validated, and targeted next-generation sequencing (NGS) of known frequent hot spots in 163 genes was performed.

Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome (BSS) is a rare inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms. BSS has been linked to mutations in CYLD gene, which is a tumor suppressor gene located on chromosome 16q12-q13. An increased risk of malignant transformation of adnexal cutaneous tumors in BSS patients has been reported.

Concurrent sarcoidal granulomas and melanoma micrometastasis in a sentinel node - a case report.

Incidental findings of non-caseating granulomas and metastasis in sentinel lymph nodes are rare but cause clinical challenges. We report a case of coinciding unexpected asymptomatic lymphoid sarcoidosis and a micrometastasis in a sentinel node of a patient, who was newly diagnosed with 2.0 mm thick melanoma on the left calf.

Pediatric toxic epidermal necrolysis treated successfully with infliximab.

Successful management of toxic epidermal necrolysis (TEN) with tumor necrosis factor-α inhibitors has been described in adults. We present a case of a 7-year-old boy with infection-associated TEN, diagnosed by typical clinical and histopathological features, most likely caused by Mycoplasma pneumoniae. Treatment with a single dose of infliximab 5 mg/kg intravenously on day 5 after the onset of symptoms was followed by cessation of all blister formation over 3 days and complete resolution within a week.

Primary and secondary mucosal melanoma of the small intestine - a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014.

The aim of this study was to describe the epidemiology, symptomatology, pathology, genetics, and treatment of primary and metastatic small intestine melanoma in a national Danish cohort. All Danish patients diagnosed with small intestinal melanoma during the period 1980-2014 were included. For each patient, clinical data along with available pathology report and tissue was registered.

HLA class Ia and Ib molecules and FOXP3+ TILs in relation to the prognosis of malignant melanoma patients.

HLA class Ia (HLA-ABC) and HLA class Ib (HLA-E, -F and -G) molecules and FOXP3+ tumor-infiltrating lymphocytes (TILs) are often reported as relevant factors of tumor immune regulation. We investigated their expression as prognostic factors in 200 patients with primary cutaneous melanoma (PCM). In our cohort, patients with tumors showing upregulation of HLA-ABC molecules had significantly thicker tumors (32% vs 7%, P<0.

Myosin-1E interacts with FAK proline-rich region 1 to induce fibronectin-type matrix.

Focal adhesion kinase (FAK) is a nonreceptor tyrosine kinase involved in development and human disease, including cancer. It is currently thought that the four-point one, ezrin, radixin, moesin (FERM)-kinase domain linker, which contains autophosphorylation site tyrosine (Y) 397, is not required for in vivo FAK function until late midgestation. Here, we directly tested this hypothesis by generating mice with FAK Y397-to-phenylalanine (F) mutations in the germline.

Endoscopic Ultrasound-Guided Liver Biopsy in the Hands of a Chest Physician.

Liver biopsy using transesophageal bronchoscopic ultrasound-guided fine needle aspiration (EUS-B-FNA) has never been described before and biopsies of infradiaphragmatic lesions using this technique are not considered to be standard. A patient suspected for primary lung cancer with multiple lesions in the liver was referred to our department. We conducted bronchoscopy and endobronchial ultrasound-guided (EBUS) biopsy from several enlarged mediastinal lymph nodes.

[Merkel cell carcinoma is a rare, aggressive neuroendocrine skin cancer].

Merkel cell carcinoma (MCC) is a rare, aggressive skin cancer with a poor survival rate. The low incidence and lack of characteristic manifestation of MCC often cause an incorrect diagnosis. A 92-year-old male presented with an asymptomatic, smooth lesion on the right cheek, which was initially diagnosed as a basal cell carcinoma.

Tumor Cell Adhesion As a Risk Factor for Sentinel Lymph Node Metastasis in Primary Cutaneous Melanoma.

Purpose: Less than 20% of patients with melanoma who undergo sentinel lymph node (SLN) biopsy based on American Society of Clinical Oncology/Society of Surgical Oncology recommendations are SLN positive. We present a multi-institutional study to discover new molecular risk factors associated with SLN positivity in thin and intermediate-thickness melanoma.

Patients And Methods: Gene clusters with functional roles in melanoma metastasis were discovered by next-generation sequencing and validated by quantitative polymerase chain reaction using a discovery set of 73 benign nevi, 76 primary cutaneous melanoma, and 11 in-transit melanoma metastases.

Treatment influencing down-staging in EORTC Melanoma Group sentinel node histological protocol compared with complete step-sectioning: a national multicentre study.

Aim: Metastasis size in melanoma sentinel lymph nodes (SLNs) is an emerging prognostic factor. Two European melanoma treatment trials include SLN metastasis diameters as inclusion criteria. Whilst diameter estimates are sensitive to the number of sections examined, the level of this bias is largely unknown.

[Sarcomatoid mesothelioma--a diagnostic challenge].

This is the case of a 62-year-old carpenter in whom a computed tomography showed a widespread "mesothelioma-like" tumour of the pleura. Needle biopsy and later autopsy showed malignant sarcomatoid tumour. The tumour stained negatively for calretinin and other "mesothelial markers".

Optical coherence tomography imaging of psoriasis vulgaris: correlation with histology and disease severity.

Epidermal thickness (ET) has been suggested as a surrogate measure of psoriasis severity. Optical coherence tomography (OCT) is a recent imaging technology that provides real-time skin images to a depth of 1.8 mm with a micrometre resolution.

Differential p53-independent outcomes of p19(Arf) loss in oncogenesis.

One reported function of the tumor suppressor p19(Arf) is to stabilize p53, providing a critical checkpoint in the response to oncogenic insults. Acute loss of Pten leads to an increase in the abundance of p19(Arf), p53, and p21 proteins as part of a fail-safe senescence response. Here, we report that loss of p19(Arf) in prostate epithelium does not accelerate-but rather partially inhibits-the prostate cancer phenotype of Pten-deficient mice.

Genomic and proteomic profiles reveal the association of gelsolin to TP53 status and bladder cancer progression.

Bladder cancer transformation and immortalization require the inactivation of key regulatory genes, including TP53. Genotyping of a large cohort of bladder cancer patients (n = 256) using the TP53 GeneChip showed mutations in 103 cases (40.2%), the majority of them mapping to the DNA-binding core domain.

The AKT-mTOR pathway plays a critical role in the development of leiomyosarcomas.

We analyzed the PI3K-AKT signaling cascade in a cohort of sarcomas and found a marked induction of insulin receptor substrate-2 (IRS2) and phosphorylated AKT and a concomitant upregulation of downstream effectors in most leiomyosarcomas. To determine the role of aberrant PI3K-AKT signaling in leiomyosarcoma pathogenesis, we genetically inactivated Pten in the smooth muscle cell lineage by cross-breeding Pten(loxP/loxP) mice with Tagln-cre mice. Mice carrying homozygous deletion of Pten alleles developed widespread smooth muscle cell hyperplasia and abdominal leiomyosarcomas, with a very rapid onset and elevated incidence (approximately 80%) compared to other animal models.

Genetic analysis of Pten and Tsc2 functional interactions in the mouse reveals asymmetrical haploinsufficiency in tumor suppression.

The role of tumor suppressor haploinsufficiency in oncogenesis is still poorly understood. The PTEN and TSC2 tumor suppressors function to antagonize mTOR (mammalian target of rapamycin) activation by Akt; hence, compound heterozygous inactivation of Pten and Tsc2 in the mouse may in principle exacerbate the tumor phenotypes observed in the single mutants in a reciprocal manner. In contrast, we found that while Tsc2 heterozygosity unmasks Pten haploinsufficiency in growth and tumor suppression, tumorigenesis in Tsc2+/- mutants is surprisingly not accelerated by Pten heterozygosity, even though mTOR activation is cooperatively enhanced by compound Pten/Tsc2 heterozygosity.

Inuit are protected against prostate cancer.

Incidence and mortality rates for prostate cancer are reported to be low among Inuit, but this finding must be additionally supported given the difficulty of obtaining a precise medical diagnosis in the Arctic. We conducted an autopsy study in 1990-1994 among 61 deceased males representative of all deaths occurring in Greenland and found only one invasive prostate cancer. Histological data were available for 27 autopsies and revealed no latent carcinoma.