PDP type brain tumor in association with multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome caused by inactivating pathogenic variants in the tumor suppressor gene menin 1 on chromosome 11q13 (Falchetti et al., 2009). The syndrome is characterized by neoplasia in two or more endocrine glands and has a high degree of penetrance. Pathogenic germline multiple neoplasia type 1 variants primarily result in neoplasia affecting the parathyroid glands, the pancreatic islet cells, and the anterior pituitary in combination. Primary hyperparathyroidism is the most common pathological manifestation of the syndrome, followed by pancreatic neuroendocrine tumors. Important genetic confirmation has been provided showing that ependymoma should be considered as a neoplasm that can occur in patients with MEN1 (Kato et al., 1996; Cuevas-Ocampo et al., 2017). The biphasic histopathological tumor entity shown in the present case we name Pleomorphic Xanthoastocytoma grade 3 differential pathology (PDP) in association with Multiple Endocrine Neoplasia type 1. This MEN1 associated tumor subtype is an extension of the findings on MEN1 associated ependymoma, where we show that the clinical phenotype itself may potentially be triggered by a frameshift germline pathogenic variant for the MEN1 gene, in combination with cyclin-dependent kinase inhibitor 1B gene germline variant and cyclin dependent kinase inhibitor 2A somatic deletion downstream of menin.</p

Intradural Extramedullary Ewing Sarcoma in an Adolescent Female

A 15-year-old female experiencing lumbar pain without prior trauma. Despite being prescribed strong analgesics by her family physician, the symptoms intensified, and she was referred to diagnostic imaging. Magnetic resonance imaging revealed an intradural extramedullary tumor in the spinal canal, located behind the L3 corpora. The patient underwent neurosurgery with a complete resection of the tumor. The histopathologic examination revealed Ewing sarcoma by identifying EWSR1 gene in the extracted tissue. The patient was subsequently referred for extensive specialized oncological treatment including photon irradiation therapy and chemotherapy. Thirty-six months on from the initial diagnosis, the patient is doing well and suffers no sequelae apart from hypogonadism

COO and MYC/BCL2 status do not predict outcome among patients with stage I/II DLBCL: a retrospective multicenter study

In advanced-stage diffuse large B-cell lymphoma (DLBCL), the presence of an activated B-cell phenotype or a non-germinal center (GCB) phenotype, coexpression of MYC and BCL2 by immunohistochemistry, and the cooccurrence of and or rearrangements are associated with inferior outcomes. It is unclear whether these variables remain prognostic in stage I/II patients. In this retrospective study, we evaluated the prognostic impact of cell of origin (COO), as well as dual-expressor (DE) status and molecular double-hit (DH) status, in stage I/II DLBCL by positron emission tomography with computed tomography (PET-CT). A total of 211 patients treated with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone)-like regimens, with or without radiotherapy, was included. The median follow-up in the entire cohort was 4 years (range, 0.4-9.4), with estimated 4-year progression-free survival (PFS) and overall survival (OS) rates of 85% (95% confidence interval [CI], 79-89) and 88% (95% CI, 83-92), respectively. By univariable analysis, DE (PFS: hazard ratio [HR], 1.27; 95% CI, 0.58-2.81, = .55 and OS: HR, 1.40; 95% CI, 0.60-3.30; = .44), DH (PFS: HR, 1.21; 95% CI, 0.27-5.31; = .80 and OS: HR, 0.61; 95% CI, 0.08-4.73; = .64), and non-GCB status (PFS: HR, 1.59; 95% CI, 0.83-3.03; = .16 and OS: HR, 1.80; 95% CI, 0.89-3.67; = .10) were associated with poorer outcomes. In patients with PET-CT-defined stage I/II DLBCL treated with R-CHOP-like therapy, with or without radiation, COO and DE and DH status were not significantly associated with inferior PFS or OS

Gene expression profiling in DLBCL primary clinical samples

Accession Number: GSE74266 Platform: GPL570: [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array Organism: Homo sapiens Published on 2016-10-05 Summary: Gene expression profiling was performed for 28 DLBCL primary clinical samples and assignment of activated B-cell-like(ABC)/germinal center B-cell-like (GCB) DLBCL classes, B-cell-associated gene signature (BAGS), and a probability of response to doxorubicin was performed for each sample. Overall Design: 28 DLBCL primary clinical samples for which gene expression was determined with Affymetrix GeneChip HG-U133 Plus 2.0 arrays. Gene expression was normalized together with expression from 34 DLBCL primary clinical samples that have been included in GSE56315. Contact: Name: Julie Støve Bødker Organization: Aalborg University Hospital Laboratory: Research Laboratory Deparment: Department of Heamatology Address: Sdr. Skovvej 15 Aalborg Denmark Email: [email protected] Organization: Affymetrix, Inc. Address: Santa Clara CA 95051 USA Email: [email protected], [email protected] Phone: 888-362-2447 Web-Link: http://www.affymetrix.com/index.aff