Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.

Objectives: Pathogenic variants are known to cause autosomal recessive disease with a spectrum of systemic involvement. We sought to expand on the spectrum of variants and describe potential treatment.

Methods: We describe a case of newly diagnosed -related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression.

Cholesterol Embolization Syndrome Post Invasive Arterial Procedure: A Case Report.

Cholesterol embolization syndrome (CES) is a rare but systemic severe disease caused by the distal showering of cholesterol crystals after angiography, major surgery, thrombolysis, or anticoagulation. Here, we present a case of a 74-year-old male with a history of coronary artery disease, chronic kidney disease, peripheral vascular disease, antiphospholipid syndrome, and right internal carotid artery occlusion who developed purple discoloration and ulceration involving several toes two months after coronary artery bypass surgery. A broad differential diagnosis for blue toes was considered, and a biopsy was obtained, which revealed an arterial lumen filled with large cholesterol crystal spaces, confirming the diagnosis of CES.

Using the Merlin assay for reducing sentinel lymph node biopsy complications in melanoma: a retrospective cohort study.

Background: The assessment of the sentinel lymph node is a cornerstone of melanoma staging. However, ~80% of sentinel lymph node biopsies (SLNB) are negative and nontherapeutic, and patients are unnecessarily exposed to surgery-related complications. Here, we gauged the potential of the Merlin assay to reduce SLNB-associated complications.

Identification of stage I/IIA melanoma patients at high risk for disease relapse using a clinicopathologic and gene expression model.

Purpose: Patients with stage I/IIA cutaneous melanoma (CM) are currently not eligible for adjuvant therapies despite uncertainty in relapse risk. Here, we studied the ability of a recently developed model which combines clinicopathologic and gene expression variables (CP-GEP) to identify stage I/IIA melanoma patients who have a high risk for disease relapse.

Patients And Methods: Archival specimens from a cohort of 837 consecutive primary CMs were used for assessing the prognostic performance of CP-GEP.

β3 integrin immunohistochemistry as a method to predict sentinel lymph node status in patients with primary cutaneous melanoma.

Background: Integrins are heterodimeric proteins composed of noncovalently linked ɑ and β subunits which are essential for a wide range of normal physiology and also play prominent roles in cancer. Here we tested whether integrin expression in diagnostic skin biopsies is associated with sentinel lymph node (SLN) metastasis.

Methods: We utilized a cohort of 854 consecutive patients with primary cutaneous melanoma to quantify the expression of β integrin subunits by reverse transcriptase quantitative PCR (RT-qPCR).

Model Combining Tumor Molecular and Clinicopathologic Risk Factors Predicts Sentinel Lymph Node Metastasis in Primary Cutaneous Melanoma.

Purpose: More than 80% of patients who undergo sentinel lymph node (SLN) biopsy have no nodal metastasis. Here we describe a model that combines clinicopathologic and molecular variables to identify patients with thin and intermediate thickness melanomas who may forgo the SLN biopsy procedure due to their low risk of nodal metastasis.

Patients And Methods: Genes with functional roles in melanoma metastasis were discovered by analysis of next generation sequencing data and case control studies.

The role of integrins in melanoma: a review.

Integrins are the major family of cell adhesion receptors in humans and essential for a wide range of normal physiology, including formation and maintenance of tissue structure integrity, cell migration, proliferation, and differentiation. Integrins also play a prominent role in tumor growth and metastasis. Translational research has tried to define the contribution of integrins to the phenotypic aggressiveness of melanoma because such knowledge is clinically useful.

FAK auto-phosphorylation site tyrosine 397 is required for development but dispensable for normal skin homeostasis.

Focal adhesion kinase (FAK) is an intensely studied non-receptor tyrosine kinase with roles in cancer and other common human diseases. Despite the large interest in FAK, the in vivo contribution of FAK auto-phosphorylation site tyrosine (Y) 397 to FAK function is incompletely understood. To study FAK Y397 in vivo we analyzed mice with 'non-phosphorylatable' Y-to-phenylalanine (F) and 'phospho-mimicking' Y-to-glutamate (E) mutations in the germline.

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.