Pathology Commons^™

Mir-638 Mediated Regulation Of Brca1 Affects Dna Repair And Sensitivity To Uv And Cisplatin In Triple Negative Breast Cancer, Xiaohui Tan, Jin Peng, Yebo Fu, Shejuan An, M. Katayoon Rezaei, Sana Tabbara, Christine B. Teal, Yan-Gao Man, Rachel F. Brem, Sidney W. Fu

Pathology Faculty Publications

Introduction

Triple-negative breast cancer (TNBC) represents 15 to 20% of all types of breast cancer; however, it accounts for a large number of metastatic cases and deaths, and there is still no effective treatment. The deregulation of microRNAs (miRNAs) in breast cancer has been widely reported. We previously identified that miR-638 was one of the most deregulated miRNAs in breast cancer progression. Bioinformatics analysis revealed that miR-638 directly targets BRCA1. The aim of this study was to investigate the role of miR-638 in breast cancer prognosis and treatment.

Methods

Formalin-fixed, paraffin-embedded (FFPE) breast cancer samples were microdissected into normal …

Metastatic Renal Cell Carconima To The Thyroid 23 Years After Nephrectomy, Carrie Valdez, M. Katayoon Rezaei, Frederick Hendricks, Stanley M. Knoll

Pathology Faculty Publications

Thyroid carcinoma is an uncommon form of human cancer, with an outstanding overall cure rate. This excellent prognosis is based on the fact that well over 99% of thyroid cancers are primary tumors. Metastatic cancer to the thyroid remains very rare. We report a case of clear cell renal carcinoma metastatic to the thyroid gland 23 years after nephrectomy.

Concurrent Non-Ketotic Hyperglycinemia And Propionic Acidemia In An Eight Year Old Boy, Paul Kruszka, Brian Kirmse, Dina Zand, Kristina Cusmano-Ozog, Elaine Spector, John Hove, Kimberly A. Chapman

Pathology Faculty Publications

This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been placed on ketogenic diet, he became lethargic and had severe metabolic acidosis with ketonuria. Urine organic acid analysis and plasma acylcarnitine profile were consistent with propionic acidemia. He was found to have an apparently homozygous mutation in the PCCB gene: c.49C …

Clinical And Laboratory Features Distinguishing Juvenile Polymyositis And Muscular Dystrophy, Gulnara Mamyrova, James D. Katz, Robert V. Jones, Ira N. Targoff, Peter A. Lachenbruch, Olcay Y. Jones, Frederick W. Miller, Lisa G. Rider

Pathology Faculty Publications

OBJECTIVE:

To differentiate juvenile polymyositis (PM) and muscular dystrophy, both of which may present with chronic muscle weakness and inflammation.

METHODS:

We studied 39 patients with probable or definite juvenile PM and 9 patients with muscular dystrophies who were initially misdiagnosed as having juvenile PM. Differences in demographic, clinical, and laboratory results; outcomes; and treatment responses were evaluated by Fisher's exact and rank sum tests. Random forests classification analysis and logistic regression were performed to examine significant differences in multivariable models.

RESULTS:

Clinical features and serum muscle enzyme levels were similar between juvenile PM and dystrophy patients, except 89% of …

Role Of Deregulated Micrornas In Breast Cancer Progression Using Ffpe Tissue, Liang Chen, Youhuai Li, Yebo Fu, Jin Peng, Meng-Hsuan Mo, Michael Stamatakos, Christine B. Teal, Rachel F. Brem, Alexander Stojadinovic, Michael Grinkemeyer, Timothy A. Mccaffrey, Yan-Gao Man, Sidney W. Fu

Pathology Faculty Publications

MicroRNAs (miRNAs) contribute to cancer initiation and progression by silencing the expression of their target genes, causing either mRNA molecule degradation or translational inhibition. Intraductal epithelial proliferations of the breast are histologically and clinically classified into normal, atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (IDC). To better understand the progression of ductal breast cancer development, we attempt to identify deregulated miRNAs in this process using Formalin-Fixed, Paraffin-Embedded (FFPE) tissues from breast cancer patients. Following tissue microdissection, we obtained 8 normal, 4 ADH, 6 DCIS and 7 IDC samples, which were subject to RNA isolation …

On An Ensemble Algorithm For Clustering Cancer Patient Data, Ran Qi, Dengyuan Wu, Li Sheng, Donald E. Henson, Arnold M. Schwartz, Eric Xu, Kai Xing, Dechang Chen

Pathology Faculty Publications

Background

The TNM staging system is based on three anatomic prognostic factors: Tumor, Lymph Node and Metastasis. However, cancer is no longer considered an anatomic disease. Therefore, the TNM should be expanded to accommodate new prognostic factors in order to increase the accuracy of estimating cancer patient outcome. The ensemble algorithm for clustering cancer data (EACCD) by Chen et al. reflects an effort to expand the TNM without changing its basic definitions. Though results on using EACCD have been reported, there has been no study on the analysis of the algorithm. In this report, we examine various aspects of …

B Cell Acute Lymphoblastic Leukemia Associated With T(8;22)(P11.2q11.2): Role Of Additional Cytogenic Anomalies, Kate M. Serdy, Shireen R. Khoury, Louis Depalma

Pathology Faculty Publications

B lymphoblastic leukemia (B-ALL) may be associated with recurrent cytogenetic and molecular abnormalities. We describe the fourth-known case of B-ALL associated with the t(8;22)(p11.2q11.2) – a translocation seen more frequently in T lymphoblastic leukemia and acute myelogenous leukemia. This patient’s leukemia involves a combination of additional cytogenetic anomalies not yet described in the literature, including del(11)(q13q23), add(9)(p22), and monosomy 7. Given the role in B cell differentiation of genes in the affected regions, including MEN1 (11q13), ATM (11q22), ETS1(11q23), MLL (11q23), AF9 (9p22), and IKZ-F1 (7p12), this case may provide further insight into B cell leukemogenesis associated with the t(8;22). …

Whole Blood Platelet Aggregation And Release Reaction Testing In Uremic Patients, Jay Zeck, Jason Schallheim, Susie Q. Lew, Louis Depalma

Pathology Faculty Publications

Background: Platelet function analysis utilizing platelet-rich plasma and optical density based aggregometry fails to identify patients at risk for uremia associated complications.

Methods: We employed whole blood platelet aggregation analysis based on impedance as well as determination of ATP release from platelet granules detected by a chemiluminescence method. Ten chronic kidney disease (CKD) stage 4 or 5 predialysis patients underwent platelet evaluation. Our study aims to evaluate this platform in this patient population to determine if abnormalities could be detected. Results. Analysis revealed normal aggregation and ATP release to collagen, ADP, and high-dose ristocetin. ATP release had a low response …

Three Linked Vasculopathic Processes Characterize Kawasaki Disease: A Light And Transmission Electron Microscopic Study, Jan M. Orenstein, Stanford T. Shulman, Linda M. Fox, Susan C. Baker, Masato Takahashi, Tricia R. Bhatti, Pierre A. Russo, Gary W. Mierau, Jean Pierre De Chadarévian, Elizabeth J. Perlman, Cynthia Trevenen, Alexandre T. Rotta, Mitra B. Kalelkar, Anne H. Rowley

Pathology Faculty Publications

Background

Kawasaki disease is recognized as the most common cause of acquired heart disease in children in the developed world. Clinical, epidemiologic, and pathologic evidence supports an infectious agent, likely entering through the lung. Pathologic studies proposing an acute coronary arteritis followed by healing fail to account for the complex vasculopathy and clinical course.

Methodology/Principal Findings

Specimens from 32 autopsies, 8 cardiac transplants, and an excised coronary aneurysm were studied by light (n=41) and transmission electron microscopy (n=7). Three characteristic vasculopathic processes were identified in coronary (CA) and non-coronary arteries: acute self-limited necrotizing arteritis (NA), subacute/chronic (SA/C) vasculitis, and luminal …