bluuebunny/crossref_metadata_2025_split huggingface dataset:
Glomus Coccygeum in Surgical Pathology Specimens
Authors: Gatalica Zoran , Wang Liqiang , Lucio Emmanuel T. , Miettinen Markku 
Published: January 2021

Abstract
Background.—Rarely encountered nonpathologic structures may pose diagnostic problems and cause unnecessary special investigations. More importantly, however, they may be falsely accused as culprits in unrelated pathologic processes. Glomus coccygeum is one such structure. Glomus bodies (including coccygeal glomus) consist of modified smooth muscle cells arranged in layers around small vascular channels. When found in distal extremities, they generally do not represent a diagnostic problem; however, large glomus bodies present in a pericoccygeal location (glomus coccygeum) may cause significant problems for a surgical pathologist unfamiliar with this structure.
Design.—We reviewed 37 coccygeal bones removed during rectal resection for carcinoma (rectal and uterine) and for various other reasons, among which was a single case of coccygodynia. Immunohistochemical and ultrastructural examinations were performed in selected cases.
Results.—Sharply circumscribed glomus bodies composed of various proportions of glomus cells without atypia or pleomorphism and without expansile growth or infiltration of surrounding soft tissue or bone were identified in 50% of cases. Size varied significantly (maximum 4 mm), but paradoxically the smallest glomus body (less than 1 mm) was found in the case of coccygodynia. Glomus coccygeum posed a significant diagnostic challenge to the pathologists involved in these cases, as the retrospective review found that it was diagnosed correctly in only 3 cases.
Conclusions.—Glomus coccygeum is a nonpathologic structure that exhibits significant variation in size and proportion of the constitutive elements. Immunohistochemical demonstration of smooth muscle actin and neuron-specific enolase in glomus cells may be beneficial for accurate identification of this organelle.
Focus of Signet Ring Cell Carcinoma in an Adenoma of the Sigmoid Colon
Authors: Tandon Manish , Sostek Mark , Klein Michael A. 
Published: January 2021

Abstract
A case of a pedunculated adenomatous polyp of the sigmoid colon was found to have a primary focus of signet ring cell carcinoma. Histologic examination of the medium-sized polyp was consistent with an adenoma to carcinoma sequence for signet ring cell carcinoma of the colon, similar to that for the common adenocarcinomas.
Familial Occurrence of Acinic Cell Carcinoma of the Parotid Gland
Authors: Depowski Peter L. , Setzen Gavin , Chui Alex , Koltai Peter J. , Dollar James , Ross Jeffrey S. 
Published: January 2021

Abstract
We report the familial occurrence of acinic cell carcinoma involving the parotid gland, the first such report of which we are aware. The familial occurrence of any salivary gland neoplasm is rare. Several reports are present in the literature, including pleomorphic adenoma, Warthin tumor, carcinoma of the submandibular gland, and malignant lymphoepithelial lesion. We report the case of a 35-year-old man who underwent excision of a left parotid gland acinic cell carcinoma. Eight years later, his daughter presented at the age of 16 years with a nontender parotid gland mass that was excised and found also to be acinic cell carcinoma. The histologic features of both neoplasms were typical of acinic cell carcinoma. While this may represent a coincidental event, the possibility that this familial occurrence is a manifestation of common genetic or environmental risk cannot be excluded.
Optimization of an Automated DNA Purification Protocol for Neonatal Screening
Authors: Heath Ellen M. , O'Brien Darin P. , Banas Richard , Naylor Edwin W. , Dobrowolski Steven 
Published: January 2021

Abstract
Context.—Collection of blood from newborns is a standard clinical procedure used for genetic screening. Typically, blood from a heel prick is absorbed onto standard collection paper and dried before analysis of metabolites, proteins, hormones, and more recently DNA.
Objective.—To evaluate strategies to purify DNA for use with automated workstations.
Design.—Two factors were used to evaluate several DNA purification protocols: residual heme contamination and amplification yield. The protocol that produced DNA with the lowest heme content and the highest amplification yield was selected. In combination with those two performance factors, the protocol with the fewest number of steps was chosen to reduce reagent use and processing time.
Setting.—Industrial research and development laboratory.
Results.—Robust amplification of DNA isolated from dried blood spots was demonstrated using both fluorescence and agarose gel–based detection methods. In addition, the samples had consistent DNA volumes and had no detectable cross-contamination. Suggested instrument settings, equipment, and supplies were included for automated processing of DNA from dried blood spots.
Conclusion.—A 4-step DNA processing protocol was developed for dried blood spots. The protocol could be performed in either a manual or automated format, making it possible to process hundreds of samples in 1 day.
Amplification of Padlock Probes for DNA Diagnostics by Cascade Rolling Circle Amplification or the Polymerase Chain Reaction
Authors: Thomas David C. , Nardone Glenn A. , Randall Sandra K. 
Published: January 2021

Abstract
Context.—Padlock probes are highly specific reagents for DNA diagnostics that can discriminate gene sequences with single base mutations. When the 3′ and 5′ terminal regions of the oligonucleotide probes are juxtaposed on a target DNA sequence, they can be circularized by enzymatic ligation and become topologically locked to the target. However, to be useful in solution-based diagnostics, the sensitivity of padlock probes must be markedly enhanced.
Objective.—To describe two methods for geometric amplification of circularized padlock probes.
Design.—Cascade rolling circle amplification is an isothermal system that uses generic primers and a DNA polymerase with strong strand displacement activity to amplify circularized probes by a mechanism combining rolling circle replication and strand displacement synthesis. One of the primers was designed as an energy transfer–labeled primer, which generates a fluorescence signal only when incorporated into the amplified product, enabling a direct means of detection.
Results.—Using pUC19 as a model target to circularize an 89-base probe, a 10 billion–fold amplification was achieved with Bst DNA polymerase (large fragment) within 1 hour starting with as few as 10 probe molecules. The polymerase chain reaction was also used to amplify ligated padlock probes in a rare target detection system. In mixing experiments containing both normal and mutant p53 or c-Ki-ras2 gene target sequences, mutant targets were easily detected in the presence of a 500-fold excess of normal target copies.
Conclusion.—These results indicate that padlock probes can be amplified to the high levels required for solution-based DNA diagnostics.
HFE Genotyping Using Multiplex Allele-Specific Polymerase Chain Reaction and Capillary Electrophoresis
Authors: Lubin Ira M. , Yamada N. Alice , Stansel Rachel M. , Pace Rhonda G. , Rohlfs Elizabeth M. , Silverman Lawrence M. 
Published: January 2021

Abstract
Context.—Hereditary hemochromatosis is recognized as one of the most common autosomal recessive disorders, with a prevalence of 1 in 200 to 400 in the white population. Early detection and treatment are completely effective in preventing pathology. It is anticipated that testing for hereditary hemochromatosis will increase, as will the need for a technology that can handle the demand.
Objective.—To describe a high-throughput, single-tube, allele-specific multiplex polymerase chain reaction assay for identifying the 2 mutations in the HFE gene associated with hereditary hemochromatosis.
Design.—Fluorescence-labeled polymerase chain reaction products from a multiplex polymerase chain reaction are analyzed by automated capillary electrophoresis.
Data Analysis.—The assay was validated by analysis of 25 blinded samples, and results were concordant with an established laboratory assay.
Conclusion.—The assay described offers a significant improvement over manual laboratory assays in throughput, reduced technologist time, and cost.
Primary Cutaneous T-Cell–Rich B-Cell Lymphomas With Flow Cytometric Immunophenotypic Findings
Authors: Dunphy Cherie H. , Nahass George T. 
Published: January 2021

Abstract
Background.—Primary cutaneous T-cell–rich B-cell lymphoma is a relatively rare entity that has been diagnosed most commonly using immunohistochemical and molecular techniques. Flow cytometric immunophenotyping (FCI) has not been described in this entity. We report the demonstration of B-cell monoclonality by FCI in 3 cases of primary cutaneous T-cell–rich B-cell lymphoma.
Methods.—Clinical and pathologic data were recorded for 3 cases of primary cutaneous T-cell–rich B-cell lymphoma. Immunohistochemical and FCI data were available in all cases; DNA analysis was performed in 1 case.
Results.—Flow cytometric immunophenotyping revealed a monoclonal B-cell population exclusively in the monocyte (large cell) region in all 3 cases. Immunohistochemistry confirmed the T-cell richness of the infiltrates within the cutaneous lymphomas; T cells accounted for 65% to greater than 90% of the cells within the infiltrates. DNA analysis by polymerase chain reaction in 1 case did not demonstrate a monoclonal rearrangement of the immunoglobulin heavy-chain gene.
Conclusions.—Flow cytometric immunophenotyping in primary cutaneous T-cell–rich B-cell lymphoma may be useful in demonstrating monoclonality in these cases, especially if there is selective gating on the relatively small population of cells in the large cell region. The FCI data should be correlated with histology and immunohistochemistry.
Expression of bcl-2 in Enteric Neurons in Normal Human Bowel and Hirschsprung Disease
Authors: Wester Tomas , Olsson Yngve , Olsen Leif 
Published: January 2021

AbstractObjective.—The bcl-2 protein has the functional role of blocking apoptosis, ie, programmed cell death. This protein is widely expressed in the developing central and peripheral nervous systems. The purpose of this study was to map bcl-2 expression in the human enteric nervous system, as this has not previously been done.Methods.—Rectal specimens were obtained at autopsy of 13 fetuses at 13 to 31 weeks of gestation. Normal colon was also obtained from 5 children and 2 adults, and, in addition, ganglionic and aganglionic bowel resected in 11 patients with Hirschsprung disease was examined. Specimens were fixed in formalin, embedded in paraffin, and analyzed with immunohistochemical methods, using antibodies raised against bcl-2 and neuron-specific enolase (NSE).Results.—The bcl-2 protein was expressed in myenteric and submucous ganglion cells in fetuses, children, and adults. Nerve fibers of the enteric plexuses that were bcl-2 immunoreactive were few compared with the number of NSE-immunoreactive nerve fibers. In aganglionic bowel no bcl-2–or NSE-immunoreactive ganglion cells were revealed. Results of NSE immunohistochemistry showed clearly stained hypertrophic nerve bundles, known to be of extrinsic origin, which were only weakly bcl-2 immunoreactive.Conclusion.—Expression of bcl-2 in enteric ganglion cells of the myenteric and submucous plexuses is displayed in the fetus and during childhood and is also retained in adult bowel. Immunohistochemical analysis of bcl-2 provides a good marker for identification of ganglion cells in Hirschsprung disease and may also be valuable for the diagnosis of disorders characterized by hypoganglionosis or hyperganglionosis.
Protocols for the Examination of Tumors of Diverse Sites
Authors: Hammond M. Elizabeth H. , Compton Carolyn C. 
Published: January 2021

Abstract
This issue of the Archives includes previously unpublished protocols for the examination of specimens removed from patients with cancer of diverse sites. We provide a historical context for the development of these protocols and describe the process of development and approval. General information about the structure and content of the protocols is also provided. Cancer protocol development is an important step in the process of standardized cancer reporting. The value of such standardized reporting is discussed.
Terminal Deoxynucleotidyl Transferase–Negative Acute Lymphoblastic Leukemia
Authors: Faber Joana , Kantarjian Hagop , Roberts W. Mark , Keating Michael , Freireich Emil , Albitar Maher 
Published: January 2021

Abstract
Objective.—Terminal deoxynucleotidyl transferase (TdT) is a useful marker in the diagnosis of acute lymphoblastic leukemia (ALL) (French-American-British [FAB] L1 and L2) and is most useful in distinguishing ALL from mature B-lymphoid neoplasms, such as Burkitt lymphoma (FAB L3) and other lymphoid malignancies. The frequency of TdT-negative ALL is not known. Here we report 3 TdT-negative ALL cases that met the criteria for T-cell ALL.
Design.—We reviewed approximately 200 cases of ALL retrieved from the database at our institution. All cases were evaluated using Wright-Giemsa, myeloperoxidase, butyrate, and TdT staining; immunophenotyped using flow cytometry; and studied using Southern blot analyses for T-cell receptors and immunoglobulin gene rearrangement.
Results.—All ALL cases (L1 and L2) were TdT-positive, except for 3 cases that were of early T-cell lineage. None of the 3 cases demonstrated positivity for TdT in immunofluorescence staining with polyclonal antibodies or flow cytometry with monoclonal antibodies. Flow cytometric analysis confirmed a pre–T-cell immunophenotype in all 3 cases. One of the cases showed rearrangement of a T-cell antigen receptor and immunoglobulin heavy chain (JH). A second case showed germline configuration of T-cell receptors, but also showed rearrangement of the JH, despite the expression of T-cell markers only.
Mucoepidermoid Carcinoma Arising in the Glans Penis
Authors: Layfield Lester J. , Liu Katharine 
Published: January 2021

Abstract
Mixed carcinoma (squamous and glandular) of the penis is a rare neoplasm with an unknown origin and a poorly defined prognosis. The mucoepidermoid carcinoma described herein has not been previously reported to our knowledge. The present carcinoma arose from and extensively ulcerated the squamous epithelium of the glans penis, including that surrounding the urethral meatus. The neoplasm was composed of well-differentiated nonkeratinizing squamous cell carcinoma associated with large areas of carcinoma formed by cell nests that contained poorly differentiated squamous elements and large eosinophilic to pale granular cells. Mucin stains revealed approximately one quarter of the pale cells contained mucous substances. These findings are virtually identical to the mucoepidermoid type of carcinoma seen in the cervix. The 3 previously reported cases of adenosquamous carcinoma of the penis demonstrated a relatively indolent course, with only one being associated with a single inguinal lymph node metastasis. That patient was alive and well 9 years following diagnosis. Our example of mucoepidermoid carcinoma appears to demonstrate a more aggressive course than those reported previously.
p53, ErbB2, and TAG-72 Expression in the Spectrum of Ductal Carcinoma In Situ of the Breast Classified by the Van Nuys System
Authors: Kanthan Rani , Xiang Jim , Magliocco Anthony M. 
Published: January 2021

Abstract
Context.—The Van Nuys (VN) classification system for ductal carcinoma in situ (DCIS) of the breast is a simplified morphology-based system that uses the presence of nuclear pleomorphism and comedo-type necrosis to stratify DCIS lesions into 3 prognostic groups.
Objective.—To determine if there is an underlying biological basis that correlates with the morphologic aspects of the VN classification system.
Design.—We evaluated the expression of markers implicated in the development of breast cancer (p53, ErbB2, and TAG-72) in DCIS classified with the VN system. Forty-five cases of pure DCIS were classified as 8 cases of VN1, 7 cases of VN2, and 30 cases of VN3. p53, ErbB2, and TAG-72 antigen expression was measured by immunohistologic means in each of the cases.
Results.—Nuclear accumulation of p53 was only observed in VN3 (30%). ErbB2 overexpression was found only in VN2 (14%) and VN3 (43%). TAG-72 expression was observed in all categories of lesions but was more frequent in VN2 (71%) and VN3 (70%) compared with VN1 (25%). It appears that overexpression of ErbB2 and p53 are features associated with the high-grade lesions.
Conclusion.—The simplified VN classification system for DCIS has a clear underlying biological basis as evidenced by differential expression of tumor-associated antigens in each of the 3 morphologic categories. These differences may contribute to the differential clinical behavior of the separate groups.
Detection of Indinavir Crystals in Urine
Authors: Hortin Glen L. , King Christine , Miller Kirk D. , Kopp Jeffrey B. 
Published: January 2021

Abstract
Objectives.—To determine the frequency of crystalluria in patients treated with the human immunodeficiency virus protease inhibitor indinavir and to compare methods of detecting crystalluria.
Methods.—A total of 308 freshly voided urine specimens from 168 patients treated with indinavir were evaluated by manual microscopy of sediment and microscopy with an automated workstation and by dipstick analysis.
Results.—Crystals were detected in 22%, 31%, or 32% of specimens using, respectively, an automated workstation, manual microscopy, or both methods. Proteinuria or hemoglobinuria occurred significantly more often in specimens with (28%) than without (18%) crystals. Frequency of crystalluria was unrelated to specific gravity, but it increased at higher pH. Crystals were detected in 21% of specimens with pH less than 6 and 42% of specimens with pH of 6 or higher.
Conclusions.—Crystalluria occurs in more than 30% of urine specimens from patients treated with indinavir, but detection rates vary substantially with method of analysis. Manual microscopy detected crystalluria 41% more often than did an automated workstation.
Mediastinal Atypical Carcinoid and Neurofibromatosis Type 1
Authors: Mathew Paul , Roberts Jeffrey A. , Zwischenberger Joseph , Haque Abida K. 
Published: January 2021

Abstract
We report a case of mediastinal atypical carcinoid in a 63-year-old woman with neurofibromatosis type 1 (NF-1), who presented with shortness of breath and a bulky mediastinal mass. Initial consideration was given to a neurogenic tumor. However, on thoracoscopic biopsy, the histologic appearance was consistent with an atypical carcinoid. Carcinoid tumors have been reported in association with NF-1 previously, but commonly in such unusual sites as the ampulla of Vater and duodenum and not in the thorax. The bulky, extensive, and highly vascular nature of the lesion precluded resection or debulking surgery. To our knowledge, there are no previous reports of atypical carcinoid of the lung or mediastinum in a patient with neurofibromatosis. This case report, therefore extends the spectrum of solid neoplasia in general and carcinoid tumors in specific, as they occur in association with NF-1.
Comparative Pathology
Authors: Smith Albert C. 
Published: January 2021

Abstract
Marine animals offer unparalleled diversity in form, behavior, environments occupied, and other attributes. Furthermore, certain of these animals have evolutionary links to humans. These features make marine animals of special interest to comparative and human pathologists. This article focuses on comparative aspects of 4 major disorders, namely, tumors, immunologic disorders, vascular pathology, and anatomic malformations.
Thyroid Sclerosing Mucoepidermoid Carcinoma With Eosinophilia
Authors: Solomon Alyson C. , Baloch Zubair W. , Salhany Kevin E. , Mandel Susan , Weber Randal S. , LiVolsi Virginia A. 
Published: January 2021

Abstract
We present the clinical and pathologic findings of a case of sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid in a 39-year-old woman. This particular case is notable because it initially presented as a cervical lymph node metastasis, and the initial clinical and histologic impression was Hodgkin disease, nodular sclerosis type. Sclerosing mucoepidermoid carcinoma with eosinophilia is a differentiated malignant neoplasm of the thyroid that can be confused with anaplastic carcinoma, medullary carcinoma, squamous cell carcinoma, or, as in this case, Hodgkin disease. A correct diagnosis of sclerosing mucoepidermoid carcinoma with eosinophilia involves awareness of this entity and appropriate immunohistochemical analysis. In this article, we briefly review the literature and stress the histologic and cytologic findings characteristic of sclerosing mucoepidermoid with eosinophilia of the thyroid.
Carcinoid-Related Angiomatous Polyposis Simulating Crohn Disease
Authors: Vesoulis Z. , Abrahams Neil , Becker John , Slezak Fred 
Published: January 2021

Abstract
Polyposis associated with ileal carcinoid tumors is a rarely described pathologic mucosal transformation that may simulate inflammatory or neoplastic polyps. We describe a case with innumerable sessile polyps and groups of large filiform-like polyps of the terminal ileum associated with submucosal carcinoid tumors and a large mesenteric carcinoid tumor mass. The clinical, radiographic, and endoscopic presentation of the polyposis, together with the presence of multiple small bowel stenotic lesions, simulated Crohn disease. We propose the descriptive terminology angiomatous polyposis to describe the striking microscopic vascular proliferation that characterizes these polyps. The distribution of these lesions, with the most profuse polyposis in the immediate proximity of the carcinoid nests, and the immunohistochemical demonstration of growth factor substances, such as transforming growth factor α within neoplastic cells and adjacent polyps, suggest a tumor factor–mediated stromal proliferation.
Basaloid Squamous Cell Carcinoma Occurring in the Urinary Bladder
Authors: Vakar-López Funda , Abrams Jacki 
Published: January 2021

Abstract
Basaloid squamous cell carcinoma is a recently described, distinct variant of squamous cell carcinoma that arises predominantly in the upper aerodigestive tract. Herein we report a case of basaloid squamous cell carcinoma arising in the urinary bladder. The patient was a 60-year-old woman who experienced intractable urinary tract infections following multiple corrective surgical procedures for incontinence. Biopsies of cystoscopically evident flat lesions were performed, and the patient subsequently underwent a radical cystectomy. Histologically, the lesions consisted of nests of basaloid cells with brisk mitotic activity, areas of squamous differentiation along with areas of squamous metaplasia, and squamous cell carcinoma in situ. These features are similar to those of basaloid squamous cell carcinoma described elsewhere in the body. To our knowledge, this is the first reported case of basaloid squamous cell carcinoma in the urinary bladder.