bluuebunny/crossref_metadata_2025_split huggingface dataset:
CD10 Is Helpful in Detecting Occult or Inconspicuous Endometrial Stromal Cells in Cases of Presumptive Endometriosis
Authors: Groisman Gabriel M. , Meir Alona 
Published: February 2021

Abstract
Background.—Previous studies have shown that CD10 is a marker for normal, ectopic, and neoplastic endometrial stromal cells. However, its value in confirming a diagnosis of presumptive endometriosis has not been extensively studied.
Objective.—To assess the reactivity of CD10 in a series of cases of presumptive endometriosis and to establish the potential usefulness of this antibody in confirming the diagnosis.
Design.—We studied hematoxylin-eosin sections and immunoreactivity of CD10 in 20 cases diagnosed as “suspicious for,” “suggestive of,” or “compatible with” endometriosis as well as in 12 cases of lesions that may be confused with endometriosis (3 endosalpingioses, 3 mesothelial hyperplasias, 3 ovarian follicular cysts, and 3 hemorrhagic corpora lutea).
Results.—Routine sections from cases of presumptive endometriosis showed glands lacking a distinct cuff of endometrial stromal cells because of atrophy or because of changes secondary to hemorrhage, inflammation, fibrosis, and/or cystic dilatation. In a few cases, the distinction between endometrial and ovarian stroma could not be assessed with certainty. CD10 immunostaining confirmed the diagnosis in 17 (85%) of the cases, as it strongly stained endometrial stromal cells that were not apparent on hematoxylin-eosin sections. All sections from lesions that may simulate endometriosis were CD10−.
Conclusion.—CD10 is helpful in detecting occult or inconspicuous ectopic endometrial stromal cells and in distinguishing endometriosis from its potential mimickers. We recommend its use to confirm or exclude the presence of endometrial stromal cells in cases of presumptive endometriosis and in lesions that may be mistaken for this entity.
Genomics, Transcriptomics, Proteomics, and Numbers
Authors: Kiechle Frederick L. , Holland-Staley Carol A. 
Published: February 2021

AbstractObjective.—To review the advances in clinically useful molecular biologic techniques and to identify their applications in clinical practice, as presented at the 11th Annual William Beaumont Hospital DNA Symposium.Data Sources.—The 8 manuscripts submitted were reviewed, and their major findings were compared with literature on the same or related topics.Study Selection.—Manuscripts address the use of molecular techniques in microbiology to evaluate infectious disease and epidemiology; molecular microbiology methods, including rapid-cycle real-time polymerase chain reaction; peroxisome proliferator–activated receptor γ as a potential therapeutic target in inflammatory bowel disease or colon cancer; the effect of nonapoptotic doses of the bisbenizamide dye Hoechst 33342 on luciferase expression in plasmid-transfected BC3H-1 myocytes; the routine use of cystic fibrosis screening and its challenges; and the use of flow cytometry and/or chromosomal translocation in the diagnostic evaluation of hematopoietic malignancies.Data Synthesis.—Three current issues related to the use of molecular tests in clinical laboratories are (1) the restriction on introducing new tests secondary to existing patents or licenses; (2) the preanalytic variables for the different specimen types currently in use, including whole blood, plasma, serum, fresh or frozen tissues, and free-circulating DNA; and (3) the interpretation of studies evaluating the association of complex diseases with a single mutation or single-nucleotide polymorphism. Molecular methods have had a major impact on infectious disease through the rapid identification of organisms, the evaluation of outbreaks, and the characterization of drug resistance when compared with standard culture techniques. The activation of peroxisome proliferator–activated receptor γ stimulated by thiazolidinedione is useful in the treatment of type II diabetes mellitus and may have value in preventing inflammatory bowel disease or colon cancer. Hoechst 33342 binding to adenine-thymine–rich regions in the minor groove of DNA is a fluorescent stain for DNA and initiates apoptosis at &gt;10 μg/mL. Lower doses of Hoechst 33342 promote luciferase expression by a mechanism that may involve binding to cryptic promoters facilitated by dye-associated misalignment of the tertiary structure of DNA. The routine use of cystic fibrosis screening is complicated by the more than 1000 mutations associated with the disease. The use of 4-color flow cytometry and the detection of chromosomal translocation are both invaluable aids in establishing the diagnosis of lymphoid or myeloid hematopoietic malignancies.Conclusions.—The current postgenomic era will continue to emphasize the use of microarrays and database software for genomic, transcriptomic, and proteomic screening in the search for useful clinical assays. The number of molecular pathologic techniques will expand as additional disease-associated mutations are defined.
Prevalence and Role of Methylenetetrahydrofolate Reductase 677 C→T and 1298 A→C Polymorphisms in Coronary Artery Disease in Arabs
Authors: Abu-Amero Khaled K. , Wyngaard Carol A. , Dzimiri Nduna 
Published: February 2021

AbstractContext.—Previous studies reported an association of 677 C→T and 1298 A→C methylenetetrahydrofolate reductase (MTHFR) variants with coronary artery disease (CAD). No previous studies concerning the prevalence of these 2 MTHFR variants or their possible association with CAD in Arabs are currently available in the literature.Objective.—To determine the prevalence of MTHFR variants and their potential relevance to CAD among Arabs.Design.—We used polymerase chain reaction and restriction enzyme digestion to determine the prevalence of these 2 MTHFR polymorphisms in 625 healthy blood donors (BDs) and 545 angiographically confirmed CAD patients of Arab origin.Results.—For the 677 C→T variant within the CAD group, 64.2% were homozygous wild-type C/C, 32.1% were heterozygous C/T, and 3.7% were homozygous T/T genotype. Within the BD group tested for the 677 C→T variant, 72.2% were homozygous wild-type C/C, 25.8% were heterozygous C/T, and 2% were homozygous T/T genotype. Within the CAD group tested for the 1298 A→C variant (n = 540), 45.7% were homozygous wild-type A/A, 46.9% were heterozygous A/C, and 7.4% were homozygous C/C genotype. Within the BD group tested for the 1298 A→C variant (n = 625), 39.4% were homozygous wild-type A/A, 51.5% were heterozygous A/C, and 9.1% were homozygous C/C genotype. The distribution and allele frequency of these 2 MTHFR variants followed the Hardy-Weinberg equilibrium and were similar in the CAD and BD study groups. The prevalence of the 677 C→T and 1298 A→C compound heterozygosity was 9.6% for the BD group and 12.3% for the CAD group.Conclusion.—The 2 MTHFR variants tested in this study, individually or compound, are not associated with CAD. Therefore, neither of these 2 variants can be considered an independent risk factor or a predictor for CAD in this population.
Quality Assurance in Human Molecular Genetics Testing: Status and Recommendations
Authors: Williams Laurina O. , Cole Eugene C. , Lubin Ira M. , Iglesias Norma I. , Jordan Ruth L. , Elliott Lauren E. 
Published: February 2021

Abstract
Objective.—The role of genetic testing has expanded with rapidly developing technology and completion of the International Human Genome Project. Development of universally acceptable quality control methods and quality assurance standards trails technology. The principle that high-quality genetic testing is important for public health motivated the Centers for Disease Control and Prevention to formulate ways for improving quality assurance of human molecular genetics testing.
Participants.—Twenty-eight panelists were chosen based on expertise in molecular genetics testing and knowledge of quality assurance practices. Representatives of professional organizations, industries, and federal agencies participated in one or more of 3 panel meetings. Consensus recommendations were developed by the 15 panelists in the third meeting.
Evidence.—Evidence was derived from experts' opinion during 3 panel meetings. Data compiled through laboratory visits and literature review were used as reference information. Need for this project was derived from the Final Report of the Task Force on Genetic Testing, produced by the National Institutes of Health and the Department of Energy in 1997, and the Summary Report of the Subcommittee Meeting on Genetics of the Clinical Laboratory Improvement Act Advisory Committee in 1997.
Consensus Process.—Research and development needs were identified using a participatory visioning approach. A modified nominal group process was used to reach consensus.
Conclusions.—Five core consensus recommendations were made: research for developing positive samples for quality assurance purposes, performance evaluation programs supplementing those in existence, establishment and support of laboratory-oriented consortia, establishment of a laboratory-focused database, and support of molecular genetics training programs.
Differential Amplification and Overexpression of HER-2/neu, p53, MIB1, and Estrogen Receptor/Progesterone Receptor Among Medullary Carcinoma, Atypical Medullary Carcinoma, and High-Grade Invasive Ductal Carcinoma of Breast
Authors: Xu Ruliang , Feiner Helen , Li Peng , Yee Herman , Inghirami Giorgio , Delgado Yara , Perle Mary Ann 
Published: February 2021

Abstract
Context.—Medullary carcinoma (MC) is a special type of breast cancer that has a better prognosis than atypical medullary carcinoma (AMC) and high-grade invasive ductal carcinoma (HGIDC) with prominent lymphocytic infiltrates. What accounts for the different clinical courses of these carcinomas, despite their similar histology, is unknown. To address this issue, we performed a comparative study of amplification and overexpression of HER-2/neu and expression of several other important biochemical markers (p53, MIB1, and estrogen receptor [ER]/progesterone receptor [PR]) in these 3 cancer groups.
Objective.—To evaluate HER-2/neu, p53, MIB1, and ER/PR as markers in the differential diagnosis of MC, AMC, and HGIDC.
Design.—Nine cases of MC, 13 cases of AMC, and 16 cases of HGIDC with prominent lymphocytic infiltrates were identified according to strict histologic criteria. All tests were performed on formalin-fixed, paraffin-embedded archival tissues. HER-2/neu gene amplification was examined by fluorescence in situ hybridization using PathVysion HER-2 DNA probes. Expression of HER-2/neu, p53, MIB1, and ER/PR was detected by immunohistochemistry. χ2 and Student t tests were applied for statistical analyses.
Results.—None of 9 cases of MC examined had either amplification or overexpression of HER-2/neu (0%). In contrast, HER-2/neu amplification was observed in AMC (46%, P &lt; .025) and HGIDC (56%, P &lt; .005). All 3 categories of tumors had similar percentages of expression of p53 (78% of MC, 77% of AMC, and 69% of HGIDC) and MIB1 (89% of MC, 92% of AMC, and 94% of HGIDC). Immunostaining for ER/PR was rarely positive in either MC or AMC, and there were no significant differences of expression of ER/PR between these 2 lesions (P &gt; .05). However, the expression rate of ER/PR (31%/44%) in HGIDC is higher than in both MC (P = .05) and AMC (P = .01).
Conclusions.—Medullary carcinoma of breast is distinct from AMC and HGIDC with prominent lymphocytic infiltrates in amplification and overexpression of HER-2/neu. This difference may account for its different clinical and biological behavior, and may potentially aid in diagnosis and management of these groups of patients.
Growth Factors and Receptors in Juvenile Nasopharyngeal Angiofibroma and Nasal Polyps: An Immunohistochemical Study
Authors: Zhang Paul J. , Weber Randal , Liang Ho-Hi , Pasha Teresa L. , LiVolsi Virginia A. 
Published: February 2021

Abstract
Background.—Juvenile nasopharyngeal angiofibroma is a rare nasopharyngeal tumor that occurs exclusively in adolescent boys. It is a histologically benign but locally persistent growth of stromal and vascular tissue. Although male hormones and some growth factors, such as transforming growth factor β1 (TGF-β1), insulin-like growth factor II (IGF-II), and, lately, the proto-oncogene β-catenin, have been implicated in the histogenesis of the tumor, the biologic signaling pathways that drive this peculiar fibrovascular proliferation are still nuclear.
Objective.—To evaluate immunoexpressions of β-catenin, c-Kit, p130Cas, TGF-β3, bone morphogenic protein 4, nerve growth factor (NGF), and the IGF receptor (IGF-1R) in a series of juvenile nasopharyngeal angiofibromas and to compare to that of a group of nasal polyps.
Design.—A standard immunohistochemical technique was used on paraffin sections of 12 sporadic juvenile nasopharyngeal angiofibromas and 15 nasal polyps with microwave or steam antigen retrieval. Immunoreactivity was analyzed semiquantitatively in stromal cells and endothelial cells of each case.
Results.—The expressions of β-catenin (nuclear), c-Kit (cytoplasmic), and NGF (cytoplasmic) were higher and more frequent in stromal cells of juvenile nasopharyngeal angiofibromas than those of nasal polyps. Both juvenile nasopharyngeal angiofibromas and nasal polyps showed similarly frequent and strong immunoreactivity for p130Cas and TGF-β3 and weak immunoreactivity for bone morphogenic protein 4 in both stromal cells and endothelial cells. No IGF-1R immunoreactivity was detected in any case of either group.
Conclusions.—Our results support the role of β-catenin in juvenile nasopharyngeal angiofibromas and suggest a potential involvement of c-Kit and NGF signaling pathways in the juvenile nasopharyngeal angiofibromas. Although the biologic significance of c-Kit in juvenile nasopharyngeal angiofibromas has yet to be defined, the finding of frequent and high c-Kit expression might have therapeutic importance for patients with juvenile nasopharyngeal angiofibromas.
Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations
Authors: Bernacki Susan H. , Farkas Daniel H. , Shi Wenmei , Chan Vivian , Liu Yenbou , Beck Jeanne C. , Bailey Karen Snow , Pratt Victoria M. , Monaghan Kristin G. , Matteson Karla J. , Schaefer Frederick V. , Friez Michael , Shrimpton Antony E. , Stenzel Timothy T. 
Published: February 2021

Abstract
Context.—Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited.
Objective.—To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus–transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis).
Design.—Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods.
Results.—We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform.
Conclusions.—Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a “real-life” situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.
CD117, but Not Lysozyme, Is Positive in Cutaneous Plasmacytoma
Authors: Bayer-Garner Ilene B. , Schwartz Mary R. , Lin Pei , Smoller Bruce R. 
Published: February 2021

Abstract
Context.—CD117 (c-Kit) and lysozyme are frequently expressed by myeloblasts and are sensitive markers for the diagnosis of extramedullary myeloid tumor. The diagnosis of cutaneous plasmacytoma presents a degree of difficulty, particularly with the plasmablastic variant, which can mimic hematologic as well as epithelioid malignancies. Approximately 25% of multiple myelomas express CD117 in the bone marrow by flow cytometry. Lysozyme immunoreactivity has been previously shown in 30% of poorly differentiated myelomas, while it is nonreactive in nonmalignant plasma cells.
Objective.—To ascertain whether CD117 and lysozyme can aid in the diagnosis of cutaneous plasmacytomas, particularly the plasmablastic type.
Design.—Pathology reports of 2357 patients with a diagnosis of multiple myeloma were reviewed to find 13 cutaneous plasmacytomas (8 Bartl grade II, 5 Bartl grade III). Formalin-fixed, paraffin-embedded tissue sections were stained with CD117 and lysozyme on the Dako Autostainer system.
Setting.—Patients with the diagnosis of multiple myeloma who developed cutaneous plasmacytoma(s).
Results.—The cutaneous plasmacytomas uniformly expressed CD117 in a cytoplasmic or membranous and cytoplasmic distribution with varying degrees of staining intensity unrelated to the Bartl grade of the lesion, while they were uniformly negative for lysozyme.
Conclusions.—CD117 is a sensitive marker for malignant plasma cells in paraffin-embedded tissue, while lysozyme does not help identify poorly differentiated malignant plasma cells. While CD117 alone does not distinguish extramedullary myeloid tumor from poorly differentiated myeloma, the combination of CD117 and lysozyme may allow their differentiation. The possibility of c-kit inhibitors being used in the treatment of other hematopoietic malignancies allows speculation regarding implications for the treatment of multiple myeloma.
Primary Malignant Gastrointestinal Stromal Tumor of the Liver
Authors: Hu Xuejiao , Forster Jameson , Damjanov Ivan 
Published: February 2021

Abstract
We report the case of a malignant, primary, hepatic gastrointestinal stromal tumor (GIST) that was resected from the liver of a 79-year-old woman. To our knowledge, this is the first primary, hepatic GIST on record. The tumor expressed CD117 (c-Kit protein) and vimentin and had the ultrastructural features of GISTs. Sixteen months after partial hepatectomy and resection of the tumor, a hilar lymph node metastasis was found. The metastatic tumor had the same morphologic features as the primary tumor, but in addition it contained numerous multinucleated giant cells. This case shows that GIST can occur as a primary liver tumor, and accordingly, we point out that not all hepatic tumors with a GIST phenotype should be automatically considered to be metastases from a primary gastrointestinal site.
Human Papillomavirus Biology and Cervical Neoplasia: Implications for Diagnostic Criteria and Testing
Authors: Stoler Mark H. 
Published: February 2021

Abstract
Human papillomaviruses are necessary for the development of cervical neoplasia. Progress in our understanding of the epithelial biology of this common pathogen has greatly influenced current concepts of cervical carcinogenesis. This understanding has provided a framework for understanding the biologic basis of many diagnostic criteria. Furthermore, classification schemes, diagnostic testing, and clinical management have been modified and clarified in light of this knowledge.
Successfully Integrating Human Papillomavirus Testing Into Your Practice
Authors: Lozano Richard 
Published: February 2021

Abstract
Integrating human papillomavirus (HPV) testing into the practice of cervical cancer screening is a continuous process that begins and ends with education. An understanding of the basic science and clinical relevance are critical to proper implementation. One must have knowledge of one's own laboratory statistics, clinician awareness, and market forces before the final steps are taken. Additional logistical issues are often laboratory specific or state specific, but are addressed here.
The Nested Variant of Urothelial Carcinoma: Clinicopathology of 2 Cases
Authors: Xiao Guang-Qian , Savage Stephen J. , Gribetz Michael E. , Burstein David E. , Miller Lorraine K. , Unger Pamela D. 
Published: February 2021

AbstractThe nested variant of urothelial carcinoma is a recently described bladder tumor entity with a rare incidence. Two cases of this disease are presented in this report; the patients in both cases were elderly men, with a predominant involvement of the trigone region. Histologically, the tumor cells were arranged in ill-defined nests and had low-grade nuclear features. Both cases had a diffusely infiltrating growth pattern with widespread local disease at cystectomy. Strong immunohistochemical staining for p63 in the neoplastic cells supports the urothelial cell nature of this neoplasm. High p53 and Ki-67 indices of this tumor correlate with the aggressiveness of this subtype.
Neurobrucellosis Presenting as Leukoencephalopathy: The Role of Cytotoxic T Lymphocytes
Authors: Seidel Gregory , Pardo Carlos A. , Newman-Toker David , Olivi Alessandro , Eberhart Charles G. 
Published: February 2021

Abstract
A 65-year-old man developed a leukoencephalopathy associated with neurobrucellosis. The disease followed a 15-month progressive course with neurologic symptoms, and magnetic resonance imaging revealed bilateral symmetrical T2 signal hyperintensities in the white matter. Biopsy of the cerebral cortex and white matter was significant for nongranulomatous meningoencephalitis with reactive microgliosis and astrogliosis. The inflammatory infiltrate was predominantly composed of T lymphocytes, including numerous cytotoxic T cells. There was no evidence of significant myelin destruction. No organisms were detected microscopically, but elevated immunoglobulin G titers to Brucella were found in the cerebrospinal fluid. An abscess formed at the biopsy site, and Brucella melitensis was cultured from abscess contents. Neurobrucellosis is difficult to diagnose outside endemic regions and is associated with leukoencephalopathy-like pathology. Cytotoxic T lymphocytes and microglia activation play an immunopathogenic role in this rare disease.
Supratentorial Hemangioblastoma: A Case Report and Review of the Literature
Authors: Acikalin Mustafa Fuat , Öner Ülkü , Tel Nilüfer , Paşaoğlu Özgül , Altınel Faruk 
Published: February 2021

Abstract
Central nervous system hemangioblastoma is a histologically benign tumor that usually occurs in the cerebellum. Supratentorial hemangioblastomas are exceedingly rare tumors. We present a case of cerebral hemangioblastoma, review the literature on supratentorial hemangioblastoma, and discuss the histologic characteristics and diagnostic difficulties associated with such lesions.