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音量 14, 問題 5 (2022)

研究論文

Endoscopic Transsphenoidal Surgery: Factors Associated with Tumor Progression in Pituitary Adenomas

Javier Lobato-Polo

Objective: The aim of this study was to measure the incidence of tumor recurrence amongst patients that underwent endoscopic transsphenoidal surgery for pituitary adenomas, as well as the performance of the molecular and radiological factors that are commonly associated with recurrence.

Methods: Patients of both adult and pediatric population with pituitary adenomas who were treated for the first time with endoscopic transsphenoidal surgery in a single tertiary care center, between June 2006 and December 2019 were included. Clinical features, laboratory results, imaging findings and molecular tests results were collected. Progression was measured in a follow-up MRI.

Results: 88 patients were included. 19.5% presented gonadotroph adenomas and non-functional adenomas, followed by corticotrophs (17.2%) and somatotrophs (13.8%). 20.7% had cellular atypia, 26.2% p53 mutation and up to 79.5% had Ki-67 under 3%. On postoperative MRI (available for 90.9% of patients) 43.8% had tumor residue. Tumor progression occurred in 32 patients (36.4%). Median progression-free survival time was 5.37 years (95%CI= 3.29-N/A). Cellular atypia, Ki-67 elevation, cavernous sinus invasion and tumor residue were suggested as significant prognostic factors. Nonetheless, multivariate time-toevent analysis identified tumor residue as the only factor significantly associated with progression: HR=4.0, 95%CI= 1.56 -10.31.

Conclusion: Residual tumor in postoperative imaging aids as a predictor for tumor progression and the invasion of the cavernous sinus, presence of cellular atypia and a proliferation index (Ki-67) above 3% influence the speed at which the recurrence appears, therefore not being a predictive factor but rather a modifier of the recurrence.

症例報告

Erdheim-Chester Disease with a Posterior Fossa Tumour Mimicking Neurosarcoidosis: A Case Report

Javier Lobato-Polo

Erdheim-Chester Disease (ECD) is a rare non-Langerhans' cell histiocytosis described in 1930 by Jakob Erdheim and William Chester, it can present as a multisystemic entity that forms xanthogranulomas which are foamy histiocytes surrounded by fibrotic tissue. Lesions are commonly located in long bones, Central Nervous System (CNS), cardiovascular system, lungs, kidneys and skin. The CNS is involved in approximately 50% of cases and can compromise both extra and intra-axial structures and therefore can mimic schwannomas or meningiomas, amongst other mass lesions. Clinical presentation will differ from patient to patient thus diagnosis depends greatly in imaging, immunohistochemistry and genetic findings within the pathology analysis. The pathogenesis of this disease remains unknown. It is most commonly found in the middle-aged male population. Here, we present a case of a middle-aged woman with an extra-axial lesion that was initially considered to be neurosarcoidosis proving the diagnostic challenge this entity implies.

研究論文

Gene Expression Meta-Analysis of Colon Rectal Cancer Tumour Cells Reveals Genes in Association with Tumorigenesis

Rutvi Vaja

Background: Every year, more than 12 million people are diagnosed with colorectal cancer (CRC), and more than 600,000 people die from it, making it second most deadly form of cancer. This work analyzes differential gene expression across CRC and other glandular tumour samples to identify expression changes potentially contributing to the development of CRC tumourigenesis.

Methods: This work defines 13 gene signatures representing four CRC tumour and 10 other glandular tumours that are colonic by origin. Gene Set Enrichment Analysis (GSEA) is used to define positive and negative CRC gene panels from GSEA-identified leading-edge genes using two CRC signatures. GSEA then is used to verify enrichment and leading-edge gene membership of CRC panels in two independent CRC gene signatures. Analysis is then extended to four individual and 10 glandular tumour signatures. Genes most associated with CRC tumourigenesis are predicted by intersecting membership of GSEA-identified leading-edges across signatures.

Results: Significant enrichment is observed between CRC gene identification signatures, from which the positive (55 genes) and negative (77 genes) CRC panels are defined. Non-random significant enrichment is observed between CRC gene panels and verification signatures, from which 54 over- and 72 under-expressed genes are shared across leading-edges. Considering other glandular tumour samples individually and in combination with CRC, significant non-random enrichment is observed across these signatures. Eight solute carrier family genes such as (SLC25A32, SLC22A3, SLC25A20, SLC36A1, SLC26A3, SLC9A2, SLC4A4 and SLC26A2) from the CRC panel were shared commonly across all the gene signatures leading-edges, regardless of the colonic tumour type.

Conclusion: This meta-analysis identifies gene expression changes associated with the process of CRC tumourigenesis. These changes may contribute to developing therapeutic treatments available for CRC patients.

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