Primary Clear Cell Sarcoma of the Lung: a Case Report.

BACKGROUND: Clear Cell Sarcoma of Soft Tissue (CCSST), or melanoma of the soft part, is a rare, aggressive tumor that originates in the aponeurosis and fasciae of the distal parts of the extremities. Reports from other sites of the body are rare. OBJECTIVE: We are reporting an extremely rare tumor that presented as a central left-sided lung mass and found to be clear cell sarcoma of soft tissue. METHODS: We report a 24-year-old male patient presented with recurrent attacks of left-sided chest pain associated with cough and dyspnea. RESULTS: Imaging showed a central left-sided 8*5.5*5 cm lung mass. The age of the patient and the radiological characteristics of the lesion were suggestive of a benign pathology. After histopathological assessment of the lesion, suspicion of the malignant process was raised, mainly melanoma of soft part and PEComa. The patient underwent left-sided pneumonectomy. The postoperative histological examination, immunohistochemical findings including positive staining for S-100, HMB-45, and Melan-A, and positive FISH study for EWSR1 gene rearrangements supported the diagnosis of CCSST originating primarily in the major fissure of left the lung. CONCLUSION: The rarity of CCSST in general and tumors originating in the lung primarily raise the challenges in hypothesizing a differential diagnosis, choosing proper investigations and treatment methods. The histological examination, immunohistochemical, and cytogenetics of the tumor are mandatory to reach the final diagnosis.

The Association of IL-1 and HRAS Gene Polymorphisms with Breast Cancer Susceptibility in a Jordanian Population of Arab Descent: A Genotype-Phenotype Study.

Breast cancer (BC) pathogenesis is poorly understood and not yet completely determined. BC susceptibility genes are responsible for 20% to 25% of breast cancer risk. The main objective of this study is to identify the genetic polymorphisms within the Harvey rat sarcoma viral oncogene homolog (HRAS1) and interleukin-1 receptor antagonist (IL1-Ra) genes in Jordanian BC female patients and to investigate the genetic association of these polymorphisms with BC. Samples were collected from 150 Jordanian BC patients and 187 healthy age-matched controls. PCR and PCR-RFLP techniques were used to identify genetic polymorphisms within these candidate genes. The single nucleotide polymorphism single nucleotide polymorphism (SNP) association web tool SNPStats (v. 3.6) was used to investigate the allelic and genotypic association with BC. Different statistical analyses were used to study the correlation between the investigated genetic variants and several prognosis factors of BC. A genetic association between BC susceptibility and Il-1ß rs1143634 was found specifically at the allelic level of E1 as a risk allele (72% in the cases vs. 64.2% in the controls). Another genetic association was found in the IL-Ra gene (86-VNTR (variable number tandem repeat)), which presented one repeat allele (24.1% in cases vs. 15.59% in controls) and could be considered as a risk allele in Jordanian women. In contrast, this study found that there is no genetic association between Il-1ß SNP rs16944 and BC. In addition, a significant association was found between the allelic level of the HRAS1 gene and BC susceptibility. Since this study is the first to be conducted on the genetic susceptibility of these genes to BC in the Jordanian population, more investigations on the link between BC and these variants are recommended to determine the impact of these polymorphisms on other ethnic groups.