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Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc

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https://www.readbyqxmd.com/read/29588532/molecular-changes-preceding-endometrial-and-ovarian-cancer-a-study-of-consecutive-endometrial-specimens-from-lynch-syndrome-surveillance
#1
Anni Niskakoski, Annukka Pasanen, Heini Lassus, Laura Renkonen-Sinisalo, Sippy Kaur, Jukka-Pekka Mecklin, Ralf Bützow, Päivi Peltomäki
Molecular alterations preceding endometrial and ovarian cancer and the sequence of events are unknown. Consecutive specimens from lifelong surveillance for Lynch syndrome provides a natural setting to address such questions. To molecularly define the multistep gynecological tumorigenesis, DNA mismatch repair gene mutation carriers with endometrial or ovarian carcinoma or endometrial hyperplasia were identified from a nation-wide registry and endometrial biopsy specimens taken from these individuals during 20 years of screening were collected...
March 27, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29581544/double-hit-or-dual-expression-of-myc-and-bcl2-in-primary-cutaneous-large-b-cell-lymphomas
#2
Sarah Menguy, Eric Frison, Martina Prochazkova-Carlotti, Stephane Dalle, Olivier Dereure, Serge Boulinguez, Sophie Dalac, Laurent Machet, Caroline Ram-Wolff, Laurence Verneuil, Audrey Gros, Béatrice Vergier, Marie Beylot-Barry, Jean-Philippe Merlio, Anne Pham-Ledard
In nodal diffuse large B-cell lymphoma, the search for double-hit with MYC and BCL2 and/or BCL6 rearrangements or for dual expression of BCL2 and MYC defines subgroups of patients with altered prognosis that has not been evaluated in primary cutaneous large B-cell lymphoma. Our objectives were to assess the double-hit and dual expressor status in a cohort of 44 patients with primary cutaneous large B-cell lymphoma according to the histological subtype and to evaluate their prognosis relevance. The 44 cases defined by the presence of more than 80% of large B-cells in the dermis corresponded to 21 primary cutaneous follicle centre lymphoma with large cell morphology and 23 primary cutaneous diffuse large B-cell lymphoma, leg type...
March 26, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29581543/programmed-cell-death-ligand-1-expression-in-tumor-and-immune-cells-is-associated-with-better-patient-outcome-and-decreased-tumor-infiltrating-lymphocytes-in-uveal-melanoma
#3
Pablo Zoroquiain, Evangelina Esposito, Patrick Logan, Sultan Aldrees, Ana Beatriz Dias, Jose Joao Mansure, Daniela Santapau, Ciro Garcia, Maria Antonia Saornil, Rubens Belfort Neto, Miguel N Burnier
Programmed cell death-1/ligand (PD-1/PD-L1) interaction negatively regulates T cell activity. PD-L1 expression in tumor cells, antigen-presenting cells, and lymphocytes of the tumor microenvironment is associated with response to treatment with PD-1/PD-L1 inhibitors, but there is still debate on the cutoff value that correlates with responders. In uveal melanoma (UM), 40% of patients will develop liver metastases and, amongst them, 90% will succumb to their disease. The aim of this study was to analyze PD-L1 expression as a prognostic marker and as a possible therapeutic target for UM...
March 26, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29581542/detailed-genomic-characterization-identifies-high-heterogeneity-and-histotype-specific-genomic-profiles-in-adrenocortical-carcinomas
#4
Simona Vatrano, Marco Volante, Eleonora Duregon, Jessica Giorcelli, Stefania Izzo, Ida Rapa, Arianna Votta, Antonina Germano, Giorgio Scagliotti, Alfredo Berruti, Massimo Terzolo, And Mauro Papotti
Molecular characterization of adrenocortical carcinoma has been recently established, but the correlation between molecular profiles and clinical and pathological characteristics is still poorly defined with no data available about genetic heterogeneity along disease progression. In this scenario, a detailed molecular profile was correlated with clinical and pathological characteristics in adrenocortical carcinoma patients to identify potentially novel biomarkers. Targeted next-generation sequencing and copy number variation analyses for 18 most frequently altered genes in adrenocortical carcinoma were assessed on 62 adult cases (including 10 with matched primary and metastatic/recurrence samples) and results correlated with major clinical and pathological characteristics of tumors...
March 26, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29572501/array-based-dna-methylation-profiling-in-sarcomas-with-small-blue-round-cell-histology-provides-valuable-diagnostic-information
#5
Christian Koelsche, Wolfgang Hartmann, Daniel Schrimpf, Damian Stichel, Susanne Jabar, Andreas Ranft, David E Reuss, Felix Sahm, David T W Jones, Melanie Bewerunge-Hudler, Marcel Trautmann, Thomas Klingebiel, Christian Vokuhl, Manfred Gessler, Eva Wardelmann, Iver Petersen, Daniel Baumhoer, Uta Flucke, Cristina Antonescu, Manel Esteller, Stefan Fröhling, Marcel Kool, Stefan M Pfister, Gunhild Mechtersheimer, Uta Dirksen, Andreas von Deimling
Undifferentiated solid tumors with small blue round cell histology and expression of CD99 mostly resemble Ewing sarcoma. However, they also may include other tumors such as mesenchymal chondrosarcoma, synovial sarcoma, or small cell osteosarcoma. Definitive classification usually requires detection of entity-specific mutations. While this approach identifies the majority of Ewing sarcomas, a subset of lesions remains unclassified and, therefore, has been termed "Ewing-like sarcomas" or small blue round cell tumors not otherwise specified...
March 23, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29572500/basophil-lineage-commitment-in-acute-promyelocytic-leukemia-predicts-for-severe-bleeding-after-starting-therapy
#6
Sergio Matarraz, Pilar Leoz, Carlos Fernández, Enrique Colado, María Carmen Chillón, María Belén Vidriales, Marcos González, Daniel Rivera, Carlos Salvador Osuna, Teresa Caballero-Velázquez, Vincent Van Der Velden, Mojca Jongen-Lavrencic, Oliver Gutiérrez, Ana Yeguas Bermejo, Luis García Alonso, Monique Bourgeois García, Cristina De Ramón Sánchez, Gloria García-Donas, Aránzazu García Mateo, Isabel Recio, Javier Sánchez-Real, Andrea Mayado, María Laura Gutiérrez, Paloma Bárcena, Susana Barrena, Antonio López, Jacques Van Dongen, Alberto Orfao
Severe hemorrhagic events occur in a significant fraction of acute promyelocytic leukemia patients, either at presentation and/or early after starting therapy, leading to treatment failure and early deaths. However, identification of independent predictors for high-risk of severe bleeding at diagnosis, remains a challenge. Here, we investigated the immunophenotype of bone marrow leukemic cells from 109 newly diagnosed acute promyelocytic leukemia patients, particularly focusing on the identification of basophil-related features, and their potential association with severe bleeding episodes and patient overall survival...
March 23, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29559742/prognostic-significance-of-tumor-infiltrating-lymphocytes-in-ductal-carcinoma-in-situ-of-the-breast
#7
Michael S Toss, I Miligy, Abdubaqi Al-Kawaz, Mansour Alsleem, Hazem Khout, Padmashree C Rida, Ritu Aneja, Andrew R Green, Ian O Ellis, Emad A Rakha
Tumor-infiltrating lymphocytes (TILs) provide prognostic value in invasive breast cancer and guidelines for their assessment have been published. This study aims to evaluate: (a) methods of TILs assessment, and (b) their prognostic significance in breast ductal carcinoma in situ (DCIS). Hematoxylin and eosin sections from two clinically annotated DCIS cohorts; a training set (n = 150 pure DCIS) and a validation set (n = 666 comprising 534 pure DCIS and 132 cases wherein DCIS and invasive breast carcinoma were co-existent) were assessed...
March 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29559741/indoleamine-2-3-dioxygenase-in-endometrial-cancer-a-targetable-mechanism-of-immune-resistance-in-mismatch-repair-deficient-and-intact-endometrial-carcinomas
#8
Anne Mills, Sara Zadeh, Emily Sloan, Zachary Chinn, Susan C Modesitt, Kari L Ring
Mismatch repair-deficient endometrial carcinomas are optimal candidates for immunotherapy given their high neoantigen loads, robust lymphoid infiltrates, and frequent PD-L1 expression. However, co-opting the PD-1/PD-L1 pathway is just one mechanism that tumors can utilize to evade host immunity. Another immune modulatory molecule that has been demonstrated in endometrial carcinoma is indoleamine 2,3-dioxygenase (IDO). We herein evaluate IDO expression in 60 endometrial carcinomas and assess results in relation to PD-L1 and mismatch repair status...
March 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29487354/mirna-profiling-of-small-intestinal-neuroendocrine-tumors-defines-novel-molecular-subtypes-and-identifies-mir-375-as-a-biomarker-of-patient-survival
#9
Yvonne Arvidsson, Anna Rehammar, Anders Bergström, Ellinor Andersson, Gülay Altiparmak, Christina Swärd, Bo Wängberg, Erik Kristiansson, Ola Nilsson
The aim of this study was to define the miRNA profile of small intestinal neuroendocrine tumors and to search for novel molecular subgroups and prognostic biomarkers. miRNA profiling was conducted on 42 tumors from 37 patients who underwent surgery for small intestinal neuroendocrine tumors. Unsupervised hierarchical clustering analysis of miRNA profiles identified two groups of tumor metastases, denoted cluster M1 and M2. The smaller cluster M1 was associated with shorter overall survival and contained tumors with higher grade (WHO grade G2/3) and multiple chromosomal gains including gain of chromosome 14...
February 27, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29483606/clinicopathologic-characteristics-of-poorly-differentiated-chordoma
#10
Angela R Shih, Gregory M Cote, Ivan Chebib, Edwin Choy, Thomas DeLaney, Vikram Deshpande, Francis J Hornicek, Ruoyu Miao, Joseph H Schwab, G Petur Nielsen, Yen-Lin Chen
Chordoma is a rare malignant tumor of bone with high morbidity and mortality. Recently, aggressive pediatric poorly differentiated chordoma with SMARCB1 loss has been described. This study summarizes the clinicopathologic features of poorly differentiated chordoma with SMARCB1 loss in the largest series to date. A search of records between 1990-2017 at MGH identified 19 patients with poorly differentiated chordoma. Immunohistochemical stains were evaluated. Kaplan-Meier survival statistics and log-rank (Mantel Cox) tests compared survival with other subtypes...
February 26, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29467480/adenoid-cystic-carcinomas-of-the-salivary-gland-lacrimal-gland-and-breast-are-morphologically-and-genetically-similar-but-have-distinct-microrna-expression-profiles
#11
Simon Andreasen, Qihua Tan, Tina Klitmøller Agander, Petr Steiner, Kristine Bjørndal, Estrid Høgdall, Stine Rosenkilde Larsen, Daiva Erentaite, Caroline Holkmann Olsen, Benedicte Parm Ulhøi, Sarah Linéa von Holstein, Irene Wessel, Steffen Heegaard, Preben Homøe
Adenoid cystic carcinoma is among the most frequent malignancies in the salivary and lacrimal glands and has a grave prognosis characterized by frequent local recurrences, distant metastases, and tumor-related mortality. Conversely, adenoid cystic carcinoma of the breast is a rare type of triple-negative (estrogen and progesterone receptor, HER2) and basal-like carcinoma, which in contrast to other triple-negative and basal-like breast carcinomas has a very favorable prognosis. Irrespective of site, adenoid cystic carcinoma is characterized by gene fusions involving MYB, MYBL1, and NFIB, and the reason for the different clinical outcomes is unknown...
February 21, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29467479/flat-epithelial-atypia-in-directional-vacuum-assisted-biopsy-of-breast-microcalcifications-surgical-excision-may-not-be-necessary
#12
Zulfia McCroskey, Nour Sneige, Carolyn R Herman, Ross A Miller, Luz A Venta, Jae Y Ro, Mary R Schwartz, Alberto G Ayala
The aim of this study was to analyze the clinicopathological features of patients with flat epithelial atypia, diagnosed in directional vacuum-assisted biopsy targeting microcalcifications, to identify upgrade rate to in situ ductal or invasive breast carcinoma, and determine factors predicting carcinoma in the subsequent excision. We retrospectively evaluated the histological, clinical, and mammographic features of 69 cases from 65 women, with directional vacuum-assisted biopsy-diagnosed flat epithelial atypia with or without atypical ductal hyperplasia or atypical lobular hyperplasia, which underwent subsequent surgical excision...
February 21, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29467478/reappraisal-of-her2-status-in-the-spectrum-of-advanced-urothelial-carcinoma-a-need-of-guidelines-for-treatment-eligibility
#13
Anissa Moktefi, Damien Pouessel, Jing Liu, Nanor Sirab, Pascale Maille, Pascale Soyeux, Christiane Copie Bergman, Marie Luce Auriault, Dimitri Vordos, Alexandre de la Taille, Stéphane Culine, Yves Allory
Although human epidermal growth factor receptor 2 (HER2) may represent a therapeutic target, its evaluation in urothelial carcinoma of the bladder does not rely on a standardized scoring system by immunohistochemistry or fluorescent in situ hybridization (FISH), as reflected by various methodology in the literature and clinical trials. Our aim was to improve and standardize HER2 amplification detection in bladder cancer. We assessed immunohistochemical criteria derived from 2013 American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAPs) guidelines for breast cancer and investigated intratumoral heterogeneity in a retrospective multicentric cohort of 188 patients with locally advanced urothelial carcinoma of the bladder...
February 21, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29463884/tumor-infiltrating-lymphocytes-and-ductal-carcinoma-in-situ-of-the-breast-friends-or-foes
#14
REVIEW
Marie Colombe Agahozo, Dora Hammerl, Reno Debets, Marleen Kok, Carolien H M van Deurzen
In the past three decades, the detection rate of ductal carcinoma in situ of the breast has dramatically increased due to breast screening programs. As a consequence, about 20% of all breast cancer cases are detected in this early in situ stage. Some ductal carcinoma in situ cases will progress to invasive breast cancer, while other cases are likely to have an indolent biological behavior. The presence of tumor-infiltrating lymphocytes is seen as a promising prognostic and predictive marker in invasive breast cancer, mainly in HER2-positive and triple-negative subtypes...
February 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29463883/frequent-and-differential-mutations-of-the-cyld-gene-in-basal-cell-salivary-neoplasms-linkage-to-tumor-development-and-progression
#15
Miguel Rito, Yoshitsugu Mitani, Diana Bell, Fernanda Viviane Mariano, Salman T Almalki, Kristen B Pytynia, Isabel Fonseca, Adel K El-Naggar
Basal cell salivary neoplasms display similar cyto-morphologic features and are classified into adenoma and adenocarcinoma based on the presence or absence of tumor invasion at diagnosis. These neoplasms also share considerable phenotypic resemblance and co-exist with certain dermal adnexal tumors harboring the CYLD gene mutations inferring common genetic association. We sequenced the CYLD gene in both basal cell adenomas and adenocarcinomas and correlated the findings with CYLD, NF-κB, and β-catenin expression levels and clinicopathologic factors...
February 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29463882/the-genetics-of-recurrent-hydatidiform-moles-new-insights-and-lessons-from-a-comprehensive-analysis-of-113-patients
#16
Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Breguet, Elvira Kurvinen, Sujatha Jagadeesh, Asli Ece Solmaz, Monica Aguinaga, Reda Hemida, Mehmet Ibrahim Harma, Cécile Rittore, Kurosh Rahimi, Jocelyne Arseneau, Karine Hovanes, Ronald Clisham, Tiffanee Lenzi, Bonnie Scurry, Marie-Claude Addor, Rashmi Bagga, Genevieve Girardet Nendaz, Vildana Finci, Gemma Poke, Leslie Grimes, Nerine Gregersen, Kayla York, Pierre-Adrien Bolze, Chirag Patel, Hossein Mozdarani, Jacques Puechberty, Jessica Scotchie, Majid Fardaei, Muge Harma, R J McKinlay Gardner, Trilochan Sahoo, Tracy Dudding-Byth, Radhika Srinivasan, Philippe Sauthier, Rima Slim
Hydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest and excessive trophoblastic proliferation. Recurrent hydatidiform moles are defined by the occurrence of at least two hydatidiform moles in the same patient. Fifty to eighty percent of patients with recurrent hydatidiform moles have biallelic pathogenic variants in NLRP7 or KHDC3L. However, in the remaining patients, the genotypic types of the moles are unknown. We characterized 80 new hydatidiform mole tissues, 57 of which were from patients with no mutations in the known genes, and we reviewed the genotypes of a total of 123 molar tissues...
February 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29463881/stroma-modifies-relationships-between-risk-factor-exposure-and-age-related-epithelial-involution-in-benign-breast
#17
Lynn Chollet-Hinton, Samantha Puvanesarajah, Rupninder Sandhu, Erin L Kirk, Bentley R Midkiff, Karthik Ghosh, Kathleen R Brandt, Christopher G Scott, Gretchen L Gierach, Mark E Sherman, Celine M Vachon, Melissa A Troester
Delayed age-related lobular involution has been previously associated with elevated breast cancer risk. However, intraindividual variability in epithelial involution status within a woman is undefined. We developed a novel measure of age-related epithelial involution, density of epithelial nuclei in epithelial areas using digital image analysis in combination with stromal characteristics (percentage of section area comprising stroma). Approximately 1800 hematoxylin and eosin stained sections of benign breast tissue were evaluated from 416 participants having breast surgery for cancer or benign conditions...
February 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29463880/salvaging-the-supernatant-next-generation-cytopathology-for-solid-tumor-mutation-profiling
#18
Sinchita Roy-Chowdhuri, Meenakshi Mehrotra, Ana Maria Bolivar, Rashmi Kanagal-Shamanna, Bedia A Barkoh, Brette Hannigan, Stephanie Zalles, Wenrui Ye, Dzifa Duose, Russell Broaddus, Gregg Staerkel, Ignacio Wistuba, L Jeffrey Medeiros, Rajyalakshmi Luthra
With the expanding role of targeted therapy in patients with solid tumors, pathologists face the daunting task of having to maximize limited volume tissue obtained by fine needle aspiration for a variety of molecular tests. While most molecular studies on fine needle aspiration samples have been reported using cellular material, recent studies have shown that a substantial amount of DNA can be retrieved from the supernatant fluid of aspirate needle rinses after cell pelleting for cytospin or cell block preparations...
February 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29449683/adult-t-cell-leukemia-lymphoma-can-be-indistinguishable-from-other-more-common-t-cell-lymphomas-the-university-of-miami-experience-with-a-large-cohort-of-cases
#19
Mahsa Khanlari, Juan Carlos Ramos, Sandra Patricia Sanchez, Jeong Hee Cho-Vega, Alexandra Amador, German Campuzano-Zuluaga, Francisco Vega, Jennifer R Chapman
Adult T-cell leukemia/lymphoma, an aggressive T-cell neoplasm, is causally linked to human T-cell lymphotropic virus type 1 and based on this association has a distinct geographic distribution. In our United States-based practice, whose population is enriched for immigrants from human T-cell lymphotropic virus type 1 endemic areas, we have identified that a subset of adult T-cell leukemia/lymphoma, in the absence of human T-cell lymphotropic virus type 1 identification, are indistinguishable from other more common T-cell neoplasms...
February 15, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29449682/anatomic-and-terminological-description-and-processing-of-breast-pathologic-specimens-from-oncoplastic-large-volume-displacement-surgeries
#20
REVIEW
Yuanxin Liang, Stephen P Naber, Abhishek Chatterjee
Oncoplastic surgery provides breast cancer patients with greater aesthetic satisfaction without compromising disease-free survival or overall survival rate. Large volume displacement oncoplastic surgical techniques have become increasingly popular as a strategy for improving aesthetic outcomes and extending the option of breast conservation therapy. They often involve breast reduction or mastopexy reconstructive techniques to facilitate resection of large breast volumes on the side of the breast cancer and accompanied with symmetry contralateral breast reductions or mastopexies...
February 15, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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