Medicinal signaling cells niche in stromal vascular fraction from lipoaspirate and microfragmented counterpart.

AIM: To expand our previous findings by increasing the number of patients in a study characterizing medicinal signaling cells (MSC) of stromal vascular fraction from lipoaspirate (SVF-LA) and from microfragmented lipoaspirate (SVF-MLA) applied for the treatment of osteoarthritis (OA). METHODS: Twenty OA patients, including 8 new patients, acquiring autologous microfragmented adipose tissue were enrolled. In-parallel immunophenotyping of SVF-LA and SVF-MLA was performed. The samples were incubated in a DuraClone SC prototype tube targeting the CD31, CD34, CD45, CD73, CD90, CD105, and CD146 surface markers, stained with the DRAQ7 cell nuclear dye and Live/Dead Yellow Fixable Stain, and analyzed by flow cytometry. RESULTS: The population phenotypes in SVF-LA and SVF-MLA samples included CD31+CD34+CD73±CD90±CD105±CD146± endothelial progenitors (EP), CD31+CD34-CD73±CD90±CD105-CD146± mature endothelial cells, CD31-CD34-CD73±CD90+CD105-CD146+ pericytes, CD31-CD34+CD73±CD90+CD105-CD146+ transitional pericytes, and CD31-CD34+CD73highCD90+CD105-CD146- supra-adventitial-adipose stromal cells. Compared with the autologous SVF-LA samples, the prevailing cell type in SVF-MLA were EP, which outnumbered leukocytes and supra-adventitial-adipose stromal cells (SA-ASC). The ratio of progenitor cells in SVF-MLA samples differed between female and male patients, showing a higher EP-pericyte and pericyte-SA-ASC ratio in men. CONCLUSION: Our results, hallmarked by EP-enriched anti-inflammatory features and indicating a possible sex-specific impact, contribute to defining the cellular composition of the clinically applied MSC serving as a regenerative cell therapy in OA.

Cytokines and Chemokines Involved in Osteoarthritis Pathogenesis.

Osteoarthritis is a common cause of disability worldwide. Although commonly referred to as a disease of the joint cartilage, osteoarthritis affects all joint tissues equally. The pathogenesis of this degenerative process is not completely understood; however, a low-grade inflammation leading to an imbalance between anabolic and katabolic processes is a well-established factor. The complex network of cytokines regulating these processes and cell communication has a central role in the development and progression of osteoarthritis. Concentrations of both proinflammatory and anti-inflammatory cytokines were found to be altered depending on the osteoarthritis stage and activity. In this review, we analyzed individual cytokines involved in the immune processes with an emphasis on their function in osteoarthritis.

Imaging of Articular and Extra-articular Sports Injuries of the Hip.

Sports-related articular and periarticular hip injuries are common in athletes. Knowledge of patient complaints and clinical findings are crucial for adequate interpretation of imaging examinations. However, asymptomatic athletes can present abnormal imaging findings, and clinical presentation of hip injuries may be nonspecific. Therefore, a thorough examination of the hip and surrounding soft tissue images is essential.This review describes the intra-articular pathologies encountered in sports activities including labrum or cartilage lesions, associated or not with femoroacetabular hip impingement syndromes, as well as ligament teres injuries, using magnetic resonance imaging (MRI) or computed tomography arthrography. Different causes of snapping hip syndrome (from intra- and extra-articular origins) are also discussed and illustrated. The extra-articular forms of hip impingement syndromes including ischiofemoral and subspine impingement are depicted with MRI and ultrasound. Diagnostic imaging of bone avulsions, greater trochanteric syndrome, athletic pubalgia, and myotendinous injuries is also described.

Early results of intra-articular micro-fragmented lipoaspirate treatment in patients with late stages knee osteoarthritis: a prospective study.

AIM: To analyze clinical and functional effects of intra-articular injection of autologous micro-fragmented lipoaspirate (MLA) in patients with late stage knee osteoarthritis (KOA). Secondary aims included classifying cell types contributing to the treatment effect, performing detailed MRI-based classification of KOA, and elucidating the predictors for functional outcomes. METHODS: This prospective, non-randomized study was conducted from June 2016 to February 2018 and enrolled 20 patients with late stage symptomatic KOA (Kellgren Lawrence grade III, n=4; and IV, n=16) who received an intra-articular injection of autologous MLA in the index knee joint. At baseline radiological KOA grade and MRI were assessed in order to classify the morphology of KOA changes. Stromal vascular fraction cells obtained from MLA samples were stained with antibodies specific for cell surface markers. Patients were evaluated at baseline and 12-months after treatment with visual analog scale (VAS), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and Knee Injury and Osteoarthritis Outcome Score (KOOS). RESULTS: Three patients (15%) received a total knee replacement and were not followed up completely. Seventeen patients (85%) showed a substantial pattern of KOOS and WOMAC improvement, significant in all accounts. KOOS score improved from 46 to 176% when compared with baseline, WOMAC decreased from 40 to 45%, while VAS rating decreased from 54% to 82% (all P values were <0.001). MLA contained endothelial progenitor cells, pericytes, and supra-adventitial adipose stromal cells as most abundant cell phenotypes. CONCLUSION: This study is among the first to show a positive effect of MLA on patients with late stages KOA.

Advanced Clinical and Radiological Features of Ankylosing Spondylitis: Relation to Gender, Onset of First Symptoms and Disease Duration.

To determine the frequency of advanced clinical and radiological features of AS with reference to gender, onset of symptoms and disease duration. Fifty-seven patients diagnosed with AS were included in this study. Functional evaluation of the musculoskeletal system detected advanced clinical features: rubber-ball phenomenon, flattening of the chest anterior wall, diastasis of rectus abdominis muscle, steel back phenomenon, umbilical extrusion, skiing posture. Conventional radiographs of sacroiliac joints, pelvis and axial skeleton were obtained in order to analyze signs of sacroiliitis, syndesmophytes, vertebral squaring and ligamentous ossification. Statistical significance is found in the distribution of particular advanced clinical and radiological features of AS between men and women: rubber-ball phenomenon (p = 0.002), flat chest (p = 0.002), diastasis of rectus abdominis muscle (p = 0.002), skiing position (p = 0.000), syndesmophytes (p = 0.009) and ligamentous ossification (p = 0.030) in thoracic and lumbar spine. Onset of first disease symptoms (> 20 years of age) is significantly associated with radiological changes in thoracic spine (ligamentous ossification, p = 0.015) and cervical spine (vertebral squaring, p = 0.032). Longer disease duration (> 10 years) is significantly associated with the appearance of particular clinical features: rubber-ball phenomenon, p < 0.01; rectus abdominis diastasis, p=0.042) and radiological changes of sacroiliac joints (grade IV sacroileitis, p = 0.012), thoracic and lumbar spine (syndesmophytes, p = 0.015; ligamentous ossification, p = 0.027). Our study shows that the occurrence of clinical and some radiological features of AS appears to be gender dependent. Furthermore, onset of first disease symptoms (> 20 years of age) and longer disease duration (> 10 years) are associated with the higher risk of developing particular clinical signs and radiological features in sacroiliac joints and axial skeleton.

[Diagnostics and treatment of osteoporotic vertebral fractures]. / Dijagnostika i lijecenje osteoporotskih prijeloma kraljezaka.

Osteoporosis is a systemic skeletal disease characterized by low bone mass and microarchitectural deterioration of bone tissue, with vertebral compressive fractures (VCFs) that may occur as a consequence. Vertebral compression fractures (VCFs) can lead to severe acute and chronic pain, impaired mobility, reduced quality of life and an increased risk of mortality due to decreased mobility and pulmonary dysfunction. When painful VCFs do come to clinical attention, they are typically treated with optimal pain management (OPM). Although the natural course of pain due to vertebral fractures decreases within the first weeks in the majority of patients, a number of them remain with persistent pain and/or ongoing vertebral collapse. Facet joint injections are an emerging procedure as possible treatment for a subgroup of patients with persistent pain after VCFs. In case of vertebral collapse or persistent pain after facet joint injections, patients have to be treated with percutaneous vertebroplasty (PVP) or percutaneous balloon kyphoplasty (BKP). PVP is a minimally invasive surgical procedure in which bone cement is injected into a fractured vertebra under radiological guidance using fluoroscopy. BKP is a variation of this approach, in which an inflatable balloon tamp is placed in the collapsed vertebra prior to cement injection, in order to create a cavity allowing low pressure injection. For peo- ple with painful osteoporotic VCFs refractory to analgesic treatment, PVP and BKP perform significantly better in unblinded trials than OPM in terms of improving quality of life and reducing pain and disability. It is possible that BKP and PVP may lead to reductions in mortality. In small subgroup of patients with neurological injury related to an osteoporotic fracture, different open surgical techniques were used to suit different fracture patterns, with good clinical and radiological results.

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy.

Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene. The dysregulation of cholesterol metabolism results in the accumulation of metabolites such as cholestanol, which has a predilection for neuronal tissue and tendons. The condition is treatable with chenodeoxycholic acid (CDCA), which halts the production of these metabolites. We present two adult brothers, without diagnosis, suffering from ataxia, general muscle weakness and cognitive deficits. Both brothers suffered from early onset cataracts, watery stools and thoracic kyphoscoliosis. Magnetic resonance imaging revealed hyperintense alterations in the central nervous system and intratendinous xanthomas in the Achilles tendons. A biochemical analysis showed elevated levels of cholestanol, lathosterol and 7-dehydrocholesterol. Their family history was negative for neurological and metabolic disorders. Genetic testing revealed a pathogenic CYP27A1 variant (c.1184+1G>A) in both brothers, confirming the diagnosis. The patients were started on CDCA therapy and have shown significant improvement at their follow-up examinations. Early diagnosis and treatment initiation in CTX patients is of great importance, as the significant reversal of disease progression can be achieved. For this reason, clinical genetic testing is necessary when it comes to patients with an onset of cataracts, chronic diarrhea, and neurological symptoms in early childhood.

[Diagnosis and conservative treatment of low back pain: review and guidelines of the Croatian Vertebrologic Society]. / Dijagnostika i konzervativno lijecenje krizobolje: pregled i smjernice Hrvatskog Vertebroloskog Drustva.

Low back pain (LBP) is a very common condition with high costs of patient care. Medical doctors of various specialties from Croatia have brought an up-to-date review and guidelines for diagnosis and conservative treatment of low back pain, which should result in the application of evidence-based care and eventually better outcomes. As LBP is a multifactorial disease, it is often not possible to identify which factors may be responsible for the onset of LBP and to what extent they aggravate the patient's symptoms. In the diagnostic algorithm, patient's history and clinical examination have the key role. Furthermore, most important is to classify patients into those with nonspecific back pain, LBP associated with radiculopathy (radicular syndrome) and LBP potentially associated with suspected or confirmed severe pathology. Not solely a physical problem, LBP should be considered through psychosocial factors too. In that case, early identification of patients who will develop chronic back pain will be helpful because it determines the choice of treatment. In order to make proper assessment of a patient with LBP (i.e. pain, function), we should use validated questionnaires. Useful approach to a patient with LBP is to apply the principles of content management. Generally, acute and chronic LBP cases are treated differently. Besides providing education, in patients with acute back pain, advice seems to be crucial (especially to remain active), along with the use of drugs (primarily in terms of pain control), while in some patients spinal manipulation (performed by educated professional) or/and short-term use of lumbosacral orthotic devices can also be considered. The main goal of treating patients with chronic LBP is renewal of function, even in case of persistent pain. For chronic LBP, along with education and medical treatment, therapeutic exercise, physical therapy and massage are recommended, while in patients with a high level of disability intensive multidisciplinary biopsychosocial approach has proved to be effective.

Results of Treating Mild to Moderate Knee Osteoarthritis with Autologous Conditioned Adipose Tissue and Leukocyte-Poor Platelet-Rich Plasma.

Knee osteoarthritis (KOA) is one of the most common musculoskeletal disorders. Much progress has been made in regenerative medicine for the symptomatic treatment of KOA, including products containing stromal vascular fraction (SVF) and platelet-rich plasma (PRP). The aim of this study was to evaluate clinical and radiological findings after the application of autologous conditioned adipose tissue (ACA) and leukocyte-poor PRP (LP-PRP) in patients with mild to moderate KOA. A total of 16 patients (eight male and eight female) with changes related to KOA on the magnetic resonance imaging (MRI), but without severe osteophytosis, full-thickness cartilage loss, or subchondral bone involvement were included in this study. Patients received an intraarticular, ultrasound-guided injection of ACA and LP-PRP. Clinical scores, including a visual analog scale for pain (VAS), Knee Injury and Osteoarthritis Outcome Score (KOOS), and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) were evaluated at baseline and at the three and six month follow-ups showing a statistically significant improvements at three and six months post-intervention. Furthermore, the delayed gadolinium-enhanced MRI of the cartilage (dGEMRIC) indices were evaluated at baseline and at the three and six month follow-ups showing no significant changes after treatment with ACA and LP-PRP, which were actually equal to the dGEMRIC indices measured in the control group (hyaluronic acid applied in contralateral knees without osteoarthritis). ACA with LP-PRP presents a viable minimally invasive therapeutic option for the clinical improvement of mild to moderate KOA. However, MFAT produced by different systems is likely to differ in cellular content, which can directly affect the paracrine effect (cytokine secretion) of mesenchymal stem cells and consequently the regeneration process.

Discovering the 60 years old secret: identification of the World War II mass grave victims from the island of Daksa near Dubrovnik, Croatia.

AIM: To describe the organization, field work, forensic anthropological examination, and DNA analysis conducted to identify the victims from a World War II mass grave found on the Dalmatian island of Daksa near Dubrovnik (Croatia) in 2009. METHODS: Excavation of the site was performed according to standard archeological procedures. Basic anthropological examination was made to determine the minimum number of victims, sex, age at death, and height. The bones with pathological and traumatic changes were identified. DNA was extracted from powdered bones and relatives' blood samples. Y-chromosome and autosomal short tandem repeats (STR) were used to establish the relationship of the remains with the putative family members. RESULTS: The remains were found to belong to at least 53 distinctive victims. All were male, mostly with gunshot wounds to the head. DNA analysis and cross-matching of the samples with relatives resulted in 14 positive identifications using the Y-chromosomal STRs and 4 positive identifications using the autosomal STRs. CONCLUSIONS: This study showed that even in cases of more than 50-year-old, highly degraded human remains from mass graves, Y-chromosomal and autosomal STRs analysis can contribute to identification of the victims.

MRI study of the ACL in children and adolescents.

UNLABELLED: Reconstruction of the ACL (anterior cruciate ligament) requires precise anatomical placement of the tendon graft. Anatomic variations may increase/decrease risk of the ACL rupture. Twenty-eight children with clinical, MRI and arthroscopic verified ACL ruptures were compared with match case control group. MRI was done one to 12 months after trauma. The thresholds values for identifying the ACL rupture were set; ACL angle < 45 degrees, Blumensat angle > 0 degrees, and the PCL angle < 115 degrees. RESULTS: There was no significant difference of tibial attachment for the ACL and measured parameters of the femur. The ACL angle (p < 0.001), the Blumensat angle (p = 0.001), and the PCL angle (p < 0.001) were significantly different. Each of the patients in group with a torn ACL had at least one parameter positive. DISCUSSION: ACL angle, Blumensat angle and PCL angle might help to diagnose ruptured ACL. Pediatric patients with the ruptured ACL show no difference in notch width or the tibial roof inclination angle as compared with pediatric patients without ACL rupture.

[Novelties in pathophysiology, radiology diagnostics and conservative treatment of painful spine conditions and deformities]. / Novosti u patofiziologiji, radioloskoj dijagnostici i konzervativnom lijecenju bolnih stanja i deformacija kraljeznice.

Spinal pain, especially chronic low-back pain is one of the most prominent health and healthcare problems. Better understanding of pain pathophysiology and more precise visualization using modern imaging techniques help us to focus our intervention and obtain better outcome. In most patients with spine conditions symptoms and function resolve with conservative treatment. In this article we report on novelties in pathophysiology of spinal pain, magnetic resonance imaging and conservative treatment options (medications, therapeutic exercise, physical therapy and orthoses) of painful spine conditions and scoliosis. Apart from being informative, together with the corresponding article about novelties in invasive/surgical treatment, this special focus article on recent developments in this area can be used as an aid in decision making when approaching these patients.

Computational analysis of MRIs predicts osteosarcoma chemoresponsiveness.

Aim: This study aimed to improve osteosarcoma chemoresponsiveness prediction by optimization of computational analysis of MRIs. Patients & methods: Our retrospective predictive model involved osteosarcoma patients with MRI scans performed before OsteoSa MAP neoadjuvant cytotoxic chemotherapy. Results: We found that several monofractal and multifractal algorithms were able to classify tumors according to their chemoresponsiveness. The predictive clues were defined as morphological complexity, homogeneity and fractality. The monofractal feature CV for Λ'(G) provided the best predictive association (area under the ROC curve = 0.88; p <0.001), followed by   Y-axis intersection of the regression line  for â€Šbox fractal dimension, r²â€Š for  FDM and tumor circularity. Conclusion: This is the first full-scale study to indicate that computational analysis of pretreatment MRIs could provide imaging biomarkers for the classification of osteosarcoma according to their chemoresponsiveness.

Comprehensive Review of Knee Osteoarthritis Pharmacological Treatment and the Latest Professional Societies' Guidelines.

Osteoarthritis is the most common musculoskeletal progressive disease, with the knee as the most commonly affected joint in the human body. While several new medications are still under research, many symptomatic therapy options, such as analgesics (opioid and non-opioid), nonsteroid anti-inflammatory drugs, symptomatic slow-acting drugs in osteoarthritis, and preparations for topical administration, are being used, with a diverse clinical response and inconsistent conclusions across various professional societies guidelines. The concept of pharmacogenomic-guided therapy, which lies on principles of the right medication for the right patient in the right dose at the right time, can significantly increase the patient's response to symptom relief therapy in knee osteoarthritis. Corticosteroid intra-articular injections and hyaluronic acid injections provoke numerous discussions and disagreements among different guidelines, even though they are currently used in daily clinical practice. Biological options, such as platelet-rich plasma and mesenchymal stem cell injections, have shown good results in the treatment of osteoarthritis symptoms, greatly increasing the patient's quality of life, especially when combined with other therapeutic options. Non-inclusion of the latter therapies in the guidelines, and their inconsistent stance on numerous therapy options, requires larger and well-designed studies to examine the true effects of these therapies and update the existing guidelines.

Polychromatic Flow Cytometric Analysis of Stromal Vascular Fraction from Lipoaspirate and Microfragmented Counterparts Reveals Sex-Related Immunophenotype Differences.

Mesenchymal stem/stromal cells or medicinal signaling cells (MSC)-based therapy holds promise as a beneficial strategy for treating knee OA (osteoarthritis), but there is no standardized protocols nor mechanistic understanding. In order to gain a better insight into the human MSC from adipose tissue applied for autologous OA treatment, we performed extensive comparative immunophenotyping of the stromal vascular fraction from lipoaspirate or microfragmented lipoaspirates by polychromatic flow cytometry and investigated the cellular components considered responsible for cartilage regeneration. We found an enrichment of the regenerative cellular niche of the clinically applied microfragmented stromal vascular fraction. Sex-related differences were observed in the MSC marker expression and the ratio of the progenitor cells from fresh lipoaspirate, which, in female patients, contained a higher expression of CD90 on the three progenitor cell types including pericytes, a higher expression of CD105 and CD146 on CD31highCD34high endothelial progenitors as well as of CD73 on supra-adventitialadipose stromal cells. Some of these MSC-expression differences were present after microfragmentation and indicated a differential phenotype pattern of the applied MSC mixture in female and male patients. Our results provide a better insight into the heterogeneity of the adipose MSC subpopulations serving as OA therapeutics, with an emphasis on interesting differences between women and men.

[Synovial chondromatosis]. / Sinovijalna hondromatoza.

Synovial chondromatosis is an uncommon benign disorder of the synovial membrane ofjoints, tendon sheaths, or bursae characterized by the formation of multiple cartilaginous nodules or osseus loose bodies. It is usually a monoarticular disease, and 33 different localizations have been described until now. The aim of this review article is to present the newest knowledge on the etiology, diagnosis, differential diagnosis, and management of synovial chondromatosis. Malignant transformation to chondrosarcoma is an unusual but possible complication. It is closely connected with recurrence rate and usually occurs many years after surgical treatment. More specific details related to surgical treatment of most often affected joints, i.e. shoulder, elbow, hip, knee, and ankle are reported as well at the end of this review article.

Ventrolateral disc herniation causes psoas muscle compression: A case report.

We report a case of a 39-year old male patient who presented to us with several months of lower back pain. Following clinical assessment, the patient underwent a magnetic resonance imaging exam, which after using advanced imaging protocols showed a ventrolateral disc hernation toward the psoas muscle. Based upon the findings in the magnetic resonance and the electromyoneurographic examination, the decision was made to treat the patient conservatively. Coronal planes are useful for discerning changes of various origins not usually seen on the sagital and axial planes. If needed, additional advanced protocol is available for increased specificity and diagnostic accuracy.

Knee Osteoarthritis: A Review of Pathogenesis and State-Of-The-Art Non-Operative Therapeutic Considerations.

Being the most common musculoskeletal progressive condition, osteoarthritis is an interesting target for research. It is estimated that the prevalence of knee osteoarthritis (OA) among adults 60 years of age or older is approximately 10% in men and 13% in women, making knee OA one of the leading causes of disability in elderly population. Today, we know that osteoarthritis is not a disease characterized by loss of cartilage due to mechanical loading only, but a condition that affects all of the tissues in the joint, causing detectable changes in tissue architecture, its metabolism and function. All of these changes are mediated by a complex and not yet fully researched interplay of proinflammatory and anti-inflammatory cytokines, chemokines, growth factors and adipokines, all of which can be measured in the serum, synovium and histological samples, potentially serving as biomarkers of disease stage and progression. Another key aspect of disease progression is the epigenome that regulates all the genetic expression through DNA methylation, histone modifications, and mRNA interference. A lot of work has been put into developing non-surgical treatment options to slow down the natural course of osteoarthritis to postpone, or maybe even replace extensive surgeries such as total knee arthroplasty. At the moment, biological treatments such as platelet-rich plasma, bone marrow mesenchymal stem cells and autologous microfragmented adipose tissue containing stromal vascular fraction are ordinarily used. Furthermore, the latter two mentioned cell-based treatment options seem to be the only methods so far that increase the quality of cartilage in osteoarthritis patients. Yet, in the future, gene therapy could potentially become an option for orthopedic patients. In the following review, we summarized all of the latest and most important research in basic sciences, pathogenesis, and non-operative treatment.

[Diagnostic imaging in assessment of rheumatic diseases]. / Radioloske metode u oslikavanju reumatskih bolesnika.

Rheumatic diseases represent one of the most common health problems for which patients visit the doctor. This fact imposes the need for verification of clinical symptoms and clear presentation ofpathomorphyology changes primarily because of the best methods of treatment selection. A wide range of diagnostic imaging modalities are available today: conventional radiography, conventional myelography, computed tomography (CT), CT myelography, magnetic resonance imaging (MRI), MR or CT artrography, spinal cord angiography, ultrasound and scintigraphy, and combined radiological methods and scintigraphy (PET-CT). Each of the above methods has its own importance, advantages and limitations. Sometimes a method excludes the other, and often support each another in setting the final diagnosis. For the proper choice of radiological imaging methods that will give us insight into the problem, a good knowledge of their capabilities, and a clear clinical inquiry are necessary. But most of all, good cooperation of clinicians and radiologists who should be diagnostic team responsible for that sets the indication for radiological examination is essential.

Clinicopathological Characteristics of BRAF V600E Mutated Melanomas in the Dalmatian Region of Croatia.

A high proportion of cutaneous melanomas harbor activating mutations of the BRAF or NRAS genes, which are components of mitogen-activated protein kinase (MAPK) signal transduction pathway. The importance of BRAF V600E mutation in melanoma is not only related to the possibility of the administration of the targeted therapy, but also to the fact that BRAF V600E mutated melanomas have distinct clinicopathological features. We investigated the clinicopathological features of 80 primary skin melanomas with known BRAF V600E mutation status excised in the Dalmatian region of Croatia, with comparison of these features between the mutated and wild-type group. The frequency of BRAF V600E mutation was 47.5%. In comparison with wild-type melanomas, BRAF V600E mutated melanomas were significantly associated with younger age and female sex (P=0.014 and P=0.011, respectively). The mutated melanomas were more often located on the extremities, of a nodular type, ulcerated, and with higher median of mitotic index but without significant difference in comparison with wild-type tumors. There were no differences in the depth of invasion and the presence of lymphovascular invasion, tumor infiltrating lymphocytes, and regression between the investigated groups. The frequency of BRAF V600E mutation in our cohort of primary skin melanomas and the clinicopathological features of mutated tumors were similar to those reported in the literature, except for the higher proportion of women observed in our group with mutation.