A retrospective analysis of oral and maxillofacial pathological lesions in a group of Egyptian children over 21 years

Objectives The goal of the current study was to evaluate the relative frequency of oral and maxillofacial pathological lesions among Egyptian children. Materials and methods Records of biopsies submitted to the department of oral and maxillofacial pathology from the year 1999 to 2019 were retrieved and reassessed for all cases under the age of 18 years. Information on age, sex, location of the lesion, and the histopathologic diagnosis was analyzed. Results Over the course of twenty-one years, 1108 specimens were analyzed where reactive soft tissue lesions, which accounted for 397 (35.8%) of all cases ranked the highest presented category, followed by inflammatory odontogenic cysts, which accounted for 213 cases (19.2%). With 208 cases, the inflammatory radicular cyst was on the top of the most common 20 lesions, followed by pyogenic granuloma (160 cases). Malignancy was found in 19 cases, with soft tissue tumors (10 cases) being the most common, followed by salivary gland (5 cases) and bone pathologies (4 cases). Conclusions The frequency of oral and maxillofacial pathological lesions among Egyptian children increased over the years but remained consistent with global trends. Clinical relevance This is the first study evaluating the relative frequency of oral and maxillofacial pathological lesions among Egyptian children and provides an insight into the most commonly encountered pediatric pathologies. This may aid in the understanding of the most prevalent oral lesions that impact the pediatric population, as well as providing the key to early detection of lesions.

Detection of MDM2 amplification by shallow whole genome sequencing of cell-free DNA of patients with dedifferentiated liposarcoma

High-level amplification of MDM2 and other genes in the 12q13–15 locus is a hallmark genetic feature of well-differentiated and dedifferentiated liposarcomas (WDLPS and DDLPS, respectively). Detection of this genomic aberration in plasma cell-free DNA may be a clinically useful assay for non-invasive distinction between these liposarcomas and other retroperitoneal tumors in differential diagnosis, and might be useful for the early detection of disease recurrence. In this study, we performed shallow whole genome sequencing of cell-free DNA extracted from 10 plasma samples from 3 patients with DDLPS and 1 patient with WDLPS. In addition, we studied 31 plasma samples from 11 patients with other types of soft tissue tumors. We detected MDM2 amplification in cell-free DNA of 2 of 3 patients with DDLPS. By applying a genome-wide approach to the analysis of cell-free DNA, we also detected amplification of other genes that are known to be recurrently affected in DDLPS. Based on the analysis of one patient with DDLPS with longitudinal plasma samples available, we show that tracking MDM2 amplification in cell-free DNA may be potentially useful for evaluation of response to treatment. The patient with WDLPS and patients with other soft tissue tumors in differential diagnosis were negative for the MDM2 amplification in cell-free DNA. In summary, we demonstrate the feasibility of detecting amplification of MDM2 and other DDLPS-associated genes in plasma cell-free DNA using technology that is already routinely applied for other clinical indications. Our results may have clinical implications for improved diagnosis and surveillance of patients with retroperitoneal tumors.

Inflammatory Myofibroblastic Tumor in the Inguinal canal: A Rare Case Report

Background Inflammatory myofibroblastic tumors, previously known as inflammatory pseudotumors, are rare soft tissue carcinomas with variable presentation and location. Due to non-specific symptoms and location, the diagnosis of this condition is often clinically challenging. Only a handful of case reports have been published in the literature describing this tumor, and there is still a lack of consensus on pathogenesis, risk factors, and treatment strategy. Most tumors have shown mutation in the anaplastic lymphoma receptor tyrosine kinase (ALK) gene. In this article, we describe a case of ALK-negative malignant inflammatory myofibroblastic tumor. Case A 46 years old male with no risk factors presented with a mass in the inguinal region. The ultrasound was suggestive of a mixed echoic mass suggestive of inguinal hernia, which led to surgical repair with resection of the tumor segment. Subsequently, histopathology and immunohistochemistry confirmed that the mass was an inflammatory myofibroblastic tumor which then recurred in a few years and failed to respond to multiple chemotherapy regimens, and over time, it progressively metastasized to the anterior abdominal wall and lungs. The patient is currently receiving palliative chemotherapy and symptomatic treatment. Conclusion This rare soft tissue tumor has not received much attention, and clinicians often miss the diagnosis. We stress that further study should be carried out on these soft tissue tumors, and adequate diagnostic and therapy recommendations should be developed.

Soft Tissue Tumor

Soft tissue tumors are a heterogeneous group of benign and malignant lesions that develop from a variety of nonepithelial, extraskeletal elements, including adipose tissue, smooth and skeletal muscle, tendons, cartilage, fibrous tissue, blood vessels, and lymphatic structures. The writing of this article includes various sources originating from scientific journals and government guidelines and related agencies. Source searches were carried out on online portals for journal publications such as Med Scape Google Scholar (scholar.google.com) and the National Centre for Biotechnology Information/NCBI (ncbi.nlm.nih.gov), with the keyword “Sensoric Nerve Trauma”. Soft tissue tumors (STT) can be benign or malignant, and benign soft tissue tumors are more common than malignant tumors with a ratio of 100: 1. In a study of 93 cases of soft tissue tumors, it was found that the incidence of benign tumors was 75.2% and malignant tumors were 24.8%. Soft tissue tumors are associated with genetic conditions, radiation, chronic lymphedema, environmental carcinogens, and infections.

Diagnostic Accuracy of Multiple MRI Parameters in Dealing With Incidental Thyroid Nodules

Background: Different MRI parameters have been studied for evaluating thyroid nodules. Diffusion-weighted imaging (DWI) and T2 imaging sequences with considerable efficacy in evaluating soft tissue tumors merit further assessment for thyroid nodules investigation.Method: In this study, patients with thyroid nodules indicative of fine-needle aspiration and cytology (FNAC) underwent MR imaging studies. The T2 signal intensity(SI), T2 signal intensity ratio (SIR), Z value, and apparent diffusion coefficient (ADC) values of the thyroid nodule were obtained for every patient. Regarding the FNAC results, the nodules were divided into malignant and benign groups. The two groups' MRI parameters were compared using a two samples independent t-test and the cut-off values estimated by analyzing the receiver operating characteristics plot.Results: The T2 values, SIR, Z values, and ADC values were significantly higher in the benign group than malignant. The cut-off points of 230 (AUC= 0.759), 3.38 (AUC=0.754), 37(AUC=0.759), and 1.73(AUC=.690) were obtained for T2values, SIR, Z value, and ADC values, respectively.Conclusion: T2 values, SIR, Z values, and ADC values are reliable parameters in discriminating benign from malignant thyroid nodules, and cut-off points of 230, 3.38, 37, and 1.73 could be reliable cut-off points for each parameter, respectively. However, further studies with a larger sample size are needed to confirm these findings.