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American Journal of Surgical Pathology

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https://www.readbyqxmd.com/read/29324473/chondromyxoid-fibroma-arising-in-craniofacial-sites-a-clinicopathologic-analysis-of-25-cases
#1
David M Meredith, Christopher D M Fletcher, Vickie Y Jo
Chondromyxoid fibroma (CMF) is a rare benign tumor, usually arising in the metaphysis of long bones in young adults. Occurrence in craniofacial bones presents a particular diagnostic challenge given its unusual location and resemblance to malignant mimics. We describe the clinicopathologic features of 25 cases of craniofacial CMF identified between 1999 and 2017. Patients were 14 men and 11 women, with median age of 44 years (range, 5 to 83 y). Sites of involvement were sphenoid (7), ethmoid (5), maxilla (3), occipital (2), nasal septum (2), palatine (2), temporal (2), orbit (1), and undisclosed skull (1)...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29324472/collagenous-enteritis-is-unlikely-a-form-of-aggressive-celiac-disease-despite-sharing-hla-dq2-dq8-genotypes
#2
Vanderlene Liu Kung, Ta-Chiang Liu, Changqing Ma
Collagenous enteritis is an uncommon small intestinal injury pattern with unclear pathogenesis. While it has been speculated that collagenous enteritis represents a form of refractory celiac disease, recent clinical studies suggest a potential link to exposure to the antihypertensive medication olmesartan. Here we hypothesized that the pathogenesis of collagenous enteritis involves both genetic and environmental factors. All subjects with biopsy-proven collagenous enteritis diagnosed between 2002 and 2015 were identified from 2 tertiary care medical centers...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29324471/sellar-region-atypical-teratoid-rhabdoid-tumors-atrt-in-adults-display-dna-methylation-profiles-of-the-atrt-myc-subgroup
#3
Pascal D Johann, Susanne Bens, Florian Oyen, Rabea Wagener, Caterina Giannini, Arie Perry, Jack M Raisanen, Gerald F Reis, Sumihito Nobusawa, Kazunori Arita, Jörg Felsberg, Guido Reifenberger, Abbas Agaimy, Rolf Buslei, David Capper, Stefan M Pfister, Reinhard Schneppenheim, Reiner Siebert, Michael C Frühwald, Werner Paulus, Marcel Kool, Martin Hasselblatt
Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly encountered in infants. Mutations of the SMARCB1 gene are the characteristic genetic lesion. A small group of ATRT stands out clinically, because these tumors are located in the sellar region of adults. To investigate if sellar region ATRT in adults represents a molecular distinct entity, we characterized molecular alterations in 7 sellar region ATRTs in adults as compared with 150 pediatric ATRTs and 47 pituitary adenomas using SMARCB1 sequencing, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization as well as DNA methylation profiling...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29324470/fibroma-like-pecoma-a-tuberous-sclerosis-complex-related-lesion
#4
Ana B Larque, Richard L Kradin, Ivan Chebib, G Petur Nielsen, Martin K Selig, Elizabeth A Thiele, Anat Stemmer-Rachamimov, Miriam A Bredella, Pawel Kurzawa, Vikram Deshpande
Perivascular epithelioid cell tumor (PEComa), mesenchymal tumors morphologically characterized by epithelioid cells, coexpress melanocytic and muscle markers. Herein, we describe a heretofore-undescribed tuberous sclerosis complex (TSC)-related neoplasm, morphologically resembling a soft tissue fibroma-like lesion, but showing an immunophenotype resembling PEComa. We identified 3 soft tissue fibroma-like lesions in individuals with TSC. We also evaluated 6 TSC-related periungual fibroma as well as a range of non-TSC fibroma-like lesions (n=19)...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29324469/parafibromin-deficient-hpt-jt-type-cdc73-mutated-parathyroid-tumors-demonstrate-distinctive-morphologic-features
#5
Anthony J Gill, Grace Lim, Veronica K Y Cheung, Juliana Andrici, Joanna L Perry-Keene, Julie Paik, Loretta Sioson, Adele Clarkson, Amy Sheen, Catherine Luxford, Marianne S Elston, Goswin Y Meyer-Rochow, M Teresa Nano, Schelto Kruijff, Anton F Engelsman, Mark Sywak, Stanley B Sidhu, Leigh W Delbridge, Bruce G Robinson, Deborah J Marsh, Christopher W Toon, Angela Chou, Roderick J Clifton-Bligh
The gene CDC73 (previously known as HRPT2) encodes the protein parafibromin. Biallelic mutation of CDC73 is strongly associated with malignancy in parathyroid tumors. Heterozygous germline mutations cause hyperparathyroidism jaw tumor syndrome,which is associated with a high life-time risk of parathyroid carcinoma. Therefore loss of parafibromin expression by immunohistochemistry may triage genetic testing for hyperparathyroidism jaw tumor syndrome and be associated with malignant behavior in atypical parathyroid tumors...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309308/novel-ewsr1-smad3-gene-fusions-in-a-group-of-acral-fibroblastic-spindle-cell-neoplasms
#6
Yu-Chien Kao, Lei Zhang, Yun-Shao Sung, Albert J H Suurmeijer, Cristina R Antonescu
Benign/low-grade fibroblastic tumors encompass a broad spectrum of tumors with different morphologies and molecular genetic abnormalities. However, despite significant progress in recent genomic characterization, there are still tumors in this histologic spectrum that are difficult to classify, lacking known molecular characteristics. Triggered by a challenging congenital spindle cell neoplasm arising in the heel of a 1-year-old boy, we applied RNA sequencing for genetic discovery and identified a novel EWSR1-SMAD3 gene fusion...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309307/a-distinct-malignant-epithelioid-neoplasm-with-gli1-gene-rearrangements-frequent-s100-protein-expression-and-metastatic-potential-expanding-the-spectrum-of-pathologic-entities-with-actb-malat1-ptch1-gli1-fusions
#7
Cristina R Antonescu, Narasimhan P Agaram, Yun-Shao Sung, Lei Zhang, David Swanson, Brendan C Dickson
ACTB-GLI1 fusions have been reported as the pathognomonic genetic abnormality defining an unusual subset of actin-positive, perivascular myoid tumors, known as "pericytoma with the t(7;12) translocation." In addition, GLI1 oncogenic activation through a related MALAT1-GLI1 gene fusion has been recently reported in 2 unrelated gastric tumors, namely plexiform fibromyxoma and gastroblastoma. Triggered by unexpected targeted RNA-sequencing results detecting GLI1-related fusions in a group of malignant neoplasms with round to epithelioid morphology, and frequently strong S100 protein immunoreactivity, we investigated their clinicopathologic features in relation to other known pathologic entities sharing similar genetics...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309306/histologic-correlates-of-clinical-and-endoscopic-severity-in-children-newly-diagnosed-with-ulcerative-colitis
#8
Brendan Boyle, Margaret Collins, Lee Denson, Jeff Hyams
No abstract text is available yet for this article.
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309305/the-afip-arp-atlases-of-pathology-past-present-and-future
#9
Ronald A DeLellis, Mirlinda Caton
The AFIP (Armed Forces Institute of Pathology) Atlases (Fascicles) have been in continuous publication for nearly 75 years and have enjoyed a highly regarded reputation for their excellence. Throughout this time period, more than 130 volumes, encompassing the 1st to 4th series have been published. Since their inception in the 1940's, the Fascicles have evolved from loose-leafed atlases illustrated with black and white images, to hardbound monographs with full color images and expansion of scope, including relevant clinical information, cytopathology, and the most recent advances in immunohistochemistry and molecular diagnostics...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309304/the-significance-of-spermatic-cord-involvement-by-testicular-germ-cell-tumors-should-we-be-staging-discontinuous-invasion-from-involved-lymphovascular-spaces-differently-from-direct-extension
#10
Joseph M Sanfrancesco, Karen E Trevino, Huiping Xu, Thomas M Ulbright, Muhammad T Idrees
The recent 8th edition of the American Joint Committee on Cancer (AJCC) staging manual had multiple changes concerning how pathologists should stage germ cell tumors (GCTs) of the testis. A significant one concerns the impact of different types of spermatic cord involvement, specifically direct tumor extension versus discontinuous involvement by invasion through lymphovascular spaces. We compared clinicopathologic findings and outcome data between 2 cohorts with these findings to evaluate the validity of the change in the AJCC 8th edition manual...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309303/swi-snf-chromatin-remodeling-complex-status-in-smarcb1-ini1-preserved-epithelioid-sarcoma
#11
Kenichi Kohashi, Hidetaka Yamamoto, Yuichi Yamada, Izumi Kinoshita, Tomoaki Taguchi, Yukihide Iwamoto, Yoshinao Oda
The SWI/SNF chromatin-remodeling complex, which is composed of evolutionarily conserved core subunits such as SMARCB1/INI1 (INI1), SMARCA4/BRG1 (BRG1), SMARCC1/BAF155 (BAF155), and SMARCC2/BAF170 (BAF170), can be viewed as the prototype of an epigenetic regulator of gene expression that is involved in tumor suppression. Epithelioid sarcoma, which classified as a tumor of uncertain differentiation, shows an almost complete loss of INI1. However, some cases of epithelioid sarcoma have preserved INI1, and the clinicopathologic features of these cases are uncertain...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309302/bone-marrow-involvement-in-patients-with-nodular-lymphocyte-predominant-hodgkin-lymphoma
#12
Rose Lou Marie C Agbay, Sanam Loghavi, Zhuang Zuo, Luis Fayad, Bouthaina Dabaja, L Jeffrey Medeiros, Joseph D Khoury
The spectrum of bone marrow lesions in patients with nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) has not been evaluated systematically. In this study, we analyzed a cohort of 262 NLPHL patients who underwent staging bone marrow evaluation or targeted bone biopsy as a part of their initial diagnostic workup, among which lymphoma was detected in 24 (9.2%) patients. Eleven patients had bone marrow findings of NLPHL (few large B cells in a background of small B cell and T cell), and 13 patients had either T-cell/histiocyte-rich large B-cell lymphoma (large B cells in a background of T cells and histiocytes) or typical diffuse large B-cell lymphoma (sheets of large B cells)...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309301/mdm2-amplification-in-intrahepatic-cholangiocarcinomas-its-relationship-with-large-duct-type-morphology-and-uncommon-kras-mutations
#13
Sung Joo Kim, Masayuki Akita, You-Na Sung, Kohei Fujikura, Jae Hoon Lee, Shin Hwang, Eunsil Yu, Kyoko Otani, Seung-Mo Hong, Yoh Zen
The present study aimed to characterize intrahepatic cholangiocarcinomas (iCCAs) with MDM2 amplification. A total of 213 cases of iCCA were examined using dual-color in situ hybridization for MDM2, immunohistochemistry for p53 and SMAD4, and gene sequencing for KRAS and IDH1/2. In situ hybridization on tissue microarrays identified MDM2 amplification in 13/213 (6%) cases. Using the recently proposed classification scheme of iCCAs (small-duct and large-duct types), all MDM2-amplified cases were of the large-duct type (13/110 cases, 12%)...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309300/reappraisal-of-morphologic-differences-between-renal-medullary-carcinoma-collecting-duct-carcinoma-and-fumarate-hydratase-deficient-renal-cell-carcinoma
#14
Chisato Ohe, Steven C Smith, Deepika Sirohi, Mukul Divatia, Mariza de Peralta-Venturina, Gladell P Paner, Abbas Agaimy, Mitual B Amin, Pedram Argani, Ying-Bei Chen, Liang Cheng, Maurizio Colecchia, Eva Compérat, Isabela Werneck da Cunha, Jonathan I Epstein, Anthony J Gill, Ondřej Hes, Michelle S Hirsch, Wolfram Jochum, Lakshmi P Kunju, Fiona Maclean, Cristina Magi-Galluzzi, Jesse K McKenney, Rohit Mehra, Gabriella Nesi, Adeboye O Osunkoya, Maria M Picken, Priya Rao, Victor E Reuter, Paulo Guilherme de Oliveira Salles, Luciana Schultz, Satish K Tickoo, Scott A Tomlins, Kiril Trpkov, Mahul B Amin
Renal medullary carcinomas (RMCs) and collecting duct carcinomas (CDCs) are rare subsets of lethal high-stage, high-grade distal nephron-related adenocarcinomas with a predilection for the renal medullary region. Recent findings have established an emerging group of fumarate hydratase (FH)-deficient tumors related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC-RCCs) syndrome within this morphologic spectrum. Recently developed, reliable ancillary testing has enabled consistent separation between these tumor types...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309299/comparison-of-myocyte-enhancer-factor-2b-versus-other-germinal-center-associated-antigens-in-the-differential-diagnosis-of-b-cell-non-hodgkin-lymphomas
#15
Erika M Moore, Steven H Swerdlow, Sarah E Gibson
Myocyte enhancer binding factor 2B (MEF2B) is a transcriptional activator of the BCL6 proto-oncogene in normal germinal center (GC) B-cells. Limited data exists concerning its expression in B-cell lymphomas, and comparison with other GC-associated antigens is lacking. Its role in the differential diagnosis of B-cell lymphomas, particularly in the distinction of follicular lymphoma (FL) versus marginal zone lymphoma (MZL), remains to be determined. We evaluated MEF2B expression, in comparison with additional GC markers, LIM domain-only transcription factor 2 (LMO2), and human GC-associated lymphoma (HGAL), in a variety of B-cell lymphomas, with particular emphasis on their utility in differentiating FL from MZL...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309298/clarifying-the-distinction-between-malignant-peripheral-nerve-sheath-tumor-and-dedifferentiated-liposarcoma-a-critical-reappraisal-of-the-diagnostic-utility-of-mdm2-and-h3k27me3-status
#16
Naohiro Makise, Masaya Sekimizu, Takashi Kubo, Susumu Wakai, Nobuyoshi Hiraoka, Motokiyo Komiyama, Masashi Fukayama, Akira Kawai, Hitoshi Ichikawa, Akihiko Yoshida
Malignant peripheral nerve sheath tumor (MPNST) and dedifferentiated liposarcoma (DDLPS) are 2 major types of pleomorphic spindle cell sarcoma. The differentiation of MPNST and DDLPS by histomorphology alone can be problematic. Although MDM2 amplification and PRC2 alteration leading to H3K27me3 deficiency are genetic hallmarks of DDLPS and MPNST, respectively, a small number of MDM2-amplified MPNSTs and H3K27me3-deficient DDLPSs have been reported in the literature. We systematically compared MDM2 and H3K27me3 status in 68 MPNSTs and 47 DDLPSs...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309297/comprehensive-assessment-of-pd-l1-staining-heterogeneity-in-pulmonary-adenocarcinomas-using-tissue-microarrays-impact-of-the-architecture-pattern-and-the-number-of-cores
#17
Andréanne Gagné, William Enlow, Marc-Antoine Pigeon, Michèle Orain, Stéphane Turcotte, Yohan Bossé, Philippe Joubert
Checkpoint inhibitors directed against programmed death receptor 1 (PD-1) and its ligand (PD-L1) changed the treatment of advanced lung non-small cell carcinomas. The decision to treat patients is influenced by PD-L1 expression by tumor cells, but evidence indicates that this staining is heterogenous within a tumor. As PD-L1 staining is tested mostly on biopsies, false negative results can occur due to sampling issues. The clinical impact of this heterogeneity has not been established. We selected 241 patients who underwent pulmonary resection for adenocarcinoma...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29309296/high-grade-endometrioid-carcinoma-of-the-ovary-a-clinicopathologic-study-of-30-cases
#18
Hisham Assem, Peter F Rambau, Sandra Lee, Travis Ogilvie, Anna Sienko, Linda E Kelemen, Martin Köbel
Although infrequently encountered, the diagnosis of ovarian high-grade endometrioid carcinoma remains a diagnostic challenge with potential consequences for targeted therapies and genetic counselling. We studied the clinical, morphologic, and immunohistochemical features of ovarian high-grade endometrioid carcinomas and their diagnostic reproducibility compared with tuboovarian high-grade serous carcinomas. Thirty cases confirmed as International Federation of Gynecology and Obstetrics grade 3 endometrioid carcinomas were identified from 182 ovarian endometrioid carcinomas diagnosed in Alberta, Canada, between 1978 and 2010, from the population-based Alberta Ovarian Tumor Types cohort...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29280854/spermatocytic-seminoma-a-report-of-85-cases-emphasizing-its-morphologic-spectrum-including-some-aspects-not-widely-known
#19
Rong Hu, Thomas M Ulbright, Robert H Young
Spermatocytic seminoma (or, alternatively, spermatocytic tumor) of the testis is rare and errors in pathologic diagnosis are still made. As it has a good prognosis, except when it, rarely, undergoes sarcomatous transformation, accurate diagnosis and differentiating it from usual seminoma and other malignant neoplasms such as lymphoma are crucial. To potentially contribute information of diagnostic aid we reviewed the largest series of cases reported to date to characterize in detail their histologic spectrum...
December 26, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29266025/multiple-eruptive-epithelioid-hemangiomas-a-subset-of-cutaneous-cellular-epithelioid-hemangioma-with-expression-of-fos-b
#20
Mar Llamas-Velasco, Werner Kempf, Carlo Cota, Maria Teresa Fernández-Figueras, Joyce Lee, Gerardo Ferrara, Christian Sander, Philip E Shapiro, Luis Requena, Heinz Kutzner
There is a wide clinicopathologic spectrum of vascular proliferations characterized by the presence of epithelioid endothelial cells, comprising epithelioid hemangioma (EH)-pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma (PM-HAE), epithelioid hemangioendothelioma, and epithelioid angiosarcoma. Immunohistochemical FOS-B expression as well as FOS-B rearrangement (fluorescent in situ hybridization [FISH]) have recently been described as diagnostically relevant underpinnings of EH (restricted to osseous lesions) and PM-HAE...
December 20, 2017: American Journal of Surgical Pathology
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