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https://www.readbyqxmd.com/read/29449679/tert-promoter-mutation-in-adult-granulosa-cell-tumor-of-the-ovary
#1
Jessica A Pilsworth, Dawn R Cochrane, Zhouchunyang Xia, Geraldine Aubert, Anniina E M Färkkilä, Hugo M Horlings, Satoshi Yanagida, Winnie Yang, Jamie L P Lim, Yi Kan Wang, Ali Bashashati, Jacqueline Keul, Adele Wong, Kevin Norris, Sara Y Brucker, Florin-Andrei Taran, Bernhard Krämer, Annette Staebler, Esther Oliva, Sohrab P Shah, Stefan Kommoss, Friedrich Kommoss, C Blake Gilks, Duncan M Baird, David G Huntsman
The telomerase reverse transcriptase (TERT) gene is highly expressed in stem cells and silenced upon differentiation. Cancer cells can attain immortality by activating TERT to maintain telomere length and telomerase activity, which is a crucial step of tumorigenesis. Two somatic mutations in the TERT promoter (C228T; C250T) have been identified as gain-of-function mutations that promote transcriptional activation of TERT in multiple cancers, such as melanoma and glioblastoma. A recent study investigating TERT promoter mutations in ovarian carcinomas found C228T and C250T mutations in 15...
February 15, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29440764/sperm-selection-by-thermotaxis-improves-icsi-outcome-in-mice
#2
Serafín Pérez-Cerezales, Ricardo Laguna-Barraza, Alejandro Chacón de Castro, María Jesús Sánchez-Calabuig, Esther Cano-Oliva, Francisco Javier de Castro-Pita, Luis Montoro-Buils, Eva Pericuesta, Raúl Fernández-González, Alfonso Gutiérrez-Adán
The ejaculate is a heterogeneous pool of spermatozoa containing only a small physiologically adequate subpopulation for fertilization. As there is no method to isolate this subpopulation, its specific characteristics are unknown. This is one of the main reasons why we lack effective tools to identify male infertility and for the low efficiency of assisted reproductive technologies. The aim of this study was to improve ICSI outcome by sperm selection through thermotaxis. Here we show that a specific subpopulation of mouse and human spermatozoa can be selected in vitro by thermotaxis and that this subpopulation is the one that enters the fallopian tube in mice...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29417399/melanoma-brain-metastases-local-therapies-targeted-therapies-immune-checkpoint-inhibitors-and-their-combinations-chances-and-challenges
#3
REVIEW
Marvin Kuske, Ricarda Rauschenberg, Marlene Garzarolli, Michelle Meredyth-Stewart, Stefan Beissert, Esther G C Troost, Oliva Isabella Claudia Glitza, Friedegund Meier
Recent phase II trials have shown that BRAF/MEK inhibitors and immune checkpoint inhibitors are active in patients with melanoma brain metastases (MBM), reporting intracranial disease control rates of 50-75%. Furthermore, retrospective analyses suggest that combining stereotactic radiosurgery with immune checkpoint inhibitors or BRAF/MEK inhibitors prolongs overall survival. These data stress the need for inter- and multidisciplinary cooperation that takes into account the individual prognostic factors in order to establish the best treatment for each patient...
February 7, 2018: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/29275930/ovarian-sex-cord-stromal-tumours-an-update-in-recent-molecular-advances
#4
REVIEW
Diana Lim, Esther Oliva
Sex cord-stromal tumours (SCSTs) consist of a heterogeneous group of neoplasms with diverse clinicopathological features and biological behaviour. They often present as a diagnostic challenge as they have varied and occasionally overlapping histomorphology and some may even mimic non-SCSTs. An accurate diagnosis is important for therapeutic and prognostic purposes. The use of a panel of immunohistochemical markers which are sensitive and specific for sex cord-stromal differentiation such as α-inhibin, calretinin, SF-1 and FOXL2, may be helpful in confirming the cellular lineage of these tumours, but is of limited utility in distinguishing between the different tumour types within this category...
December 21, 2017: Pathology
https://www.readbyqxmd.com/read/29258703/gynaecological-pathology-problematic-areas-new-concepts-and-emerging-developments
#5
EDITORIAL
W Glenn McCluggage, Esther Oliva
No abstract text is available yet for this article.
December 16, 2017: Pathology
https://www.readbyqxmd.com/read/29192652/zc3h7b-bcor-high-grade-endometrial-stromal-sarcomas-a-report-of-17-cases-of-a-newly-defined-entity
#6
Natasha Lewis, Robert A Soslow, Deborah F Delair, Kay J Park, Rajmohan Murali, Travis J Hollmann, Ben Davidson, Francesca Micci, Ioannis Panagopoulos, Lien N Hoang, Javier A Arias-Stella, Esther Oliva, Robert H Young, Martee L Hensley, Mario M Leitao, Meera Hameed, Ryma Benayed, Marc Ladanyi, Denise Frosina, Achim A Jungbluth, Cristina R Antonescu, Sarah Chiang
High-grade endometrial stromal sarcoma likely encompasses underrecognized tumors harboring genetic abnormalities besides YWHAE-NUTM2 fusion. Triggered by three initial endometrial stromal sarcomas with ZC3H7B-BCOR fusion characterized by high-grade morphology and aggressive clinical behavior, we herein investigate the clinicopathologic features of this genetic subset by expanding the analysis to 17 such tumors. All of them occurred in adult women with a median age of 54 (range, 28-71) years. They were predominantly based in the endomyometrium and demonstrated tongue-like and/or pushing myometrial invasion...
December 1, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29137233/outcome-of-patients-treated-for-myelodysplastic-syndromes-with-5q-deletion-after-failure-of-lenalidomide-therapy
#7
Thomas Prebet, Thomas Cluzeau, Sophie Park, Mikkael A Sekeres, Ulrich Germing, Lionel Ades, Uwe Platzbecker, Katharina Gotze, Norbert Vey, Esther Oliva, Mary M Sugrue, Cecile Bally, Charikleia Kelaidi, Najla Al Ali, Pierre Fenaux, Steven D Gore, Rami Komrokji
While lenalidomide (LEN) is the standard of care for the lower-risk myelodysplastic syndromes (MDS) patients with deletion 5q, 35% will not respond to or do not tolerate the drug. Moreover, most of the patients will lose their response after a few years. Defining the outcome of patients with LEN failure and determining the impact of subsequent therapies is therefore important to develop alternative strategies. Based on an international collaboration, we were able to compile a total of 392 patient cases of lower-risk MDS patients with 5q deletion and to analyze their outcome after failure of lenalidomide...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29135516/international-endocervical-adenocarcinoma-criteria-and-classification-iecc-a-new-pathogenetic-classification-for-invasive-adenocarcinomas-of-the-endocervix
#8
Simona Stolnicu, Iulia Barsan, Lien Hoang, Prusha Patel, Cristina Terinte, Anna Pesci, Sarit Aviel-Ronen, Takako Kiyokawa, Isabel Alvarado-Cabrero, Malcolm C Pike, Esther Oliva, Kay J Park, Robert A Soslow
We sought to classify endocervical adenocarcinomas (ECAs) based on morphologic features linked to etiology (ie, human papillomavirus [HPV] infection), unlike the World Health Organization 2014 classification. The International Endocervical Adenocarcinoma Criteria and Classification (IECC criteria), described herein, distinguishes between human papillomavirus-associated adenocarcinoma (HPVA), recognized by the presence of luminal mitoses and apoptosis seen at scanning magnification, and no or limited HPVA features (nonhuman papillomavirus-associated adenocarcinoma [NHPVA])...
February 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29094403/longitudinal-changes-in-lic-and-other-parameters-in-patients-receiving-different-chelation-regimens-data-from-licnet
#9
Angela Vitrano, Massimiliano Sacco, Rosamaria Rosso, Alessandra Quota, Daniela Fiorino, Esther Oliva, Calogera Gerardi, Gaetano Roccamo, Vincenzo Spadola, Aldo Filosa, Lorenzo Tesé, Giuseppina Calvaruso, Lorella Pitrolo, Laura Mistretta, Filippo Cassarà, Rosario Di Maggio, Aurelio Maggio
OBJECTIVES: The liver remains the primary site of iron storage, with liver iron concentration (LIC) being a strong surrogate of total body iron. MRI-R2 can accurately measure LIC. The LICNET (Liver Iron Cutino Net-work) was established to diagnostics of liver iron overload by MRI-R2 subjects with hemochromatosis in haematological disorders. The aims of the study were to look at variation of LIC measurements during time across different chelation regimens. METHODS: This was a cross-sectional study of 130 patients attending 9 Italian centres participating in the LICNET...
November 1, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28863072/ywhae-rearrangement-in-a-purely-conventional-low-grade-endometrial-stromal-sarcoma-that-transformed-over-time-to-high-grade-sarcoma-importance-of-molecular-testing
#10
Omonigho Aisagbonhi, Beth Harrison, Liena Zhao, Rebecca Osgood, Ivan Chebib, Esther Oliva
Low and high-grade endometrial stromal sarcomas (ESS) can be distinguished on a morphologic basis. Low-grade ESS is composed of oval cells that resemble normal proliferative-phase endometrial stroma, while the well-known high-grade ESS is composed of round cells growing in nests separated by delicate sinusoidal vasculature. Recurrent JAZF1 rearrangements have been reported to be most frequent in low-grade stromal sarcomas (up to 60%), while YWHAE rearrangements are characteristic of high-grade ESS. Herein, we report a case of a 45-yr-old woman with stage IA typical low-grade ESS who developed multiple abdominopelvic recurrences and lung metastases 15 mo after her primary tumor was resected...
August 31, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28814568/fetal-type-gastrointestinal-adenocarcinoma-a-morphologically-distinct-entity-with-unfavourable-prognosis
#11
Kshtij Arora, Munita Bal, Angela Shih, Andrea Moy, Lawerence Zukerberg, Ian Brown, Xiuli Liu, Paul Kelly, Esther Oliva, John Mullen, Soomin Ahn, Kyoung-Mee Kim, Vikram Deshpande
AIMS: This multi-institutional study and a re-evaluation of the TCGA cohort explores the morphological spectrum, genetics and outcome of GI (gastrointestinal) hepatoid tumours, tumours expressing alpha-fetoprotein (AFP) and fetal-type (FT) GI adenocarcinomas. METHODS: 44 tumours with evidence of hepatocellular differentiation were evaluated for morphology as well as by immunohistochemistry for AFP, HepPar1, glypican-3 and arginase-1 and by in situ hybridisation for albumin...
August 16, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28799013/phospho-mimicking-atf1-mutants-bypass-the-transcription-activating-function-of-the-map-kinase-sty1-of-fission-yeast
#12
REVIEW
Laura Sánchez-Mir, Clàudia Salat-Canela, Esther Paulo, Mercè Carmona, José Ayté, Baldo Oliva, Elena Hidalgo
Stress-dependent activation of signaling cascades is often mediated by phosphorylation events, but the exact nature and role of these phosphorelays are frequently poorly understood. Here, we review which are the consequences of the stress-dependent phosphorylation of a transcription factor on gene activation. In fission yeast, the MAP kinase Sty1 is activated upon several environmental hazards and promotes cell adaptation and survival, greatly through activation of a gene program mediated by the transcription factor Atf1...
August 10, 2017: Current Genetics
https://www.readbyqxmd.com/read/28700849/case-21-2017-a-28-year-old-pregnant-woman-with-endocervical-carcinoma
#13
John O Schorge, Andrea L Russo, Michael F Greene, Melissa A Woythaler, Esther Oliva
Presentation of Case. Dr. Mariam Naqvi (Obstetrics and Gynecology): A 28-year-old pregnant woman with Rh isoimmunization and endocervical carcinoma was seen in the maternal–fetal outpatient clinic of this hospital at 34.1 weeks of gestation. The patient was gravida 3, para 2001 (the first delivery..
July 13, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28675513/itaca-a-new-validated-international-erythropoietic-stimulating-agent-response-score-that-further-refines-the-predictive-power-of-previous-scoring-systems
#14
Rena Buckstein, Enrico Balleari, Richard Wells, Valeria Santini, Alessandro Sanna, Chiara Salvetti, Elena Crisà, Bernardino Allione, Paolo Danise, Carlo Finelli, Marino Clavio, Antonella Poloni, Flavia Salvi, Daniela Cilloni, Esther Natalie Oliva, Pellegrino Musto, Brett Houston, Nancy Zhu, Michelle Geddes, Heather Leitch, Brian Leber, Mitchell Sabloff, Thomas J Nevill, Karen W Yee, John M Storring, Janika Francis, Luca Maurillo, Roberto Latagliata, Maria Antonietta Aloe Spiriti, Alessandro Andriani, Anna Lina Piccioni, Luana Fianchi, Susanna Fenu, Svitlana Gumenyuk, Francesco Buccisano
BACKGROUND: In 'real-life', the Nordic score guides Erythropoietic stimulating agent (ESA) use in lower-risk myelodysplastic syndrome (MDS) with predicted response rates of 25% or 74%. As new treatments emerge, a more discriminating score is needed. OBJECTIVES: To validate existing ESA predictive scores and develop a new score that identifies non-responders. METHODS: ESA-treated patients were identified in 3 MDS registries in Italy and Canada (FISM 555, GROM 233, and MDS-CAN 208)...
October 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28664937/leiomyoma-with-bizarre-nuclei-a-morphological-immunohistochemical-and-molecular-analysis-of-31-cases
#15
Jennifer A Bennett, Britta Weigelt, Sarah Chiang, Pier Selenica, Ying-Bei Chen, Ann Bialik, Rui Bi, Anne M Schultheis, Raymond S Lim, Charlotte K Y Ng, Vicente Morales-Oyarvide, Robert H Young, Victor E Reuter, Robert A Soslow, Esther Oliva
Leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome and leiomyomas with bizarre nuclei often show overlapping morphological features, in particular cells with prominent eosinophilic nucleoli, perinucleolar halos, and eosinophilic cytoplasmic inclusions. Although hereditary leiomyomatosis and renal cell carcinoma syndrome is defined by fumarate hydratase (FH) germline mutations, resulting in S-(2-succino)-cysteine (2SC) formation, it is unknown whether leiomyomas with bizarre nuclei show similar alterations...
October 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28664932/inflammatory-myofibroblastic-tumor-of-the-uterus-a-clinicopathological-immunohistochemical-and-molecular-analysis-of-13-cases-highlighting-their-broad-morphologic-spectrum
#16
Jennifer A Bennett, Valentina Nardi, Marjan Rouzbahman, Vicente Morales-Oyarvide, G Petur Nielsen, Esther Oliva
Inflammatory myofibroblastic tumors of the uterus are rare, and although most have a favorable prognosis, a small subset exhibit extrauterine disease, recur, or cause death. In this study, we evaluated the morphology and immunoprofile of 13 uterine inflammatory myofibroblastic tumors, including four with aggressive behavior. ALK rearrangements were detected by fluorescence in situ hybridization and fusion partners by anchored multiplex assay. Patients ranged from 8 to 63 (mean 39) years and tumors from 2...
October 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28652406/deciphering-the-role-of-the-signal-and-sty1-kinase-dependent-phosphorylation-of-the-stress-responsive-transcription-factor-atf1-on-gene-activation
#17
COMPARATIVE STUDY
Clàudia Salat-Canela, Esther Paulo, Laura Sánchez-Mir, Mercè Carmona, José Ayté, Baldo Oliva, Elena Hidalgo
Adaptation to stress triggers the most dramatic shift in gene expression in fission yeast (Schizosaccharomyces pombe), and this response is driven by signaling via the MAPK Sty1. Upon activation, Sty1 accumulates in the nucleus and stimulates expression of hundreds of genes via the nuclear transcription factor Atf1, including expression of atf1 itself. However, the role of stress-induced, Sty1-mediated Atf1 phosphorylation in transcriptional activation is unclear. To this end, we expressed Atf1 phosphorylation mutants from a constitutive promoter to uncouple Atf1 activity from endogenous, stress-activated Atf1 expression...
August 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28648845/substance-abuse-and-gender-differences-in-first-episode-psychosis-impact-on-hospital-readmissions
#18
Josep M Crosas, Jesus Cobo, Maribel Ahuir, Carla Hernández, Rebeca García, Esther Pousa, Joan-Carles Oliva, José-Antonio Monreal, Diego J Palao
INTRODUCTION: There have been controversial results in the study of gender differences in first episode psychosis (FEP). Substance abuse is the main existing comorbidity in FEP, and has been associated with worse prognosis and greater symptom severity. OBJECTIVES: To explore gender differences in FEP in relation to drug abuse, and their relationship with hospital readmissions. METHODOLOGY: Descriptive and prospective study (18 months). RESULTS: We included 141 patients (31...
June 22, 2017: Revista de Psiquiatrí́a y Salud Mental
https://www.readbyqxmd.com/read/28645118/outcome-of-patients-treated-for-myelodysplastic-syndromes-with-5q-deletion-after-failure-of-lenalidomide-therapy
#19
Thomas Prebet, Thomas Cluzeau, Sophie Park, Mikkael A Sekeres, Ulrich Germing, Lionel Ades, Uwe Platzbecker, Katharina Gotze, Norbert Vey, Esther Oliva, Mary M Sugrue, Cecile Bally, Charikleia Kelaidi, Najla Al Ali, Pierre Fenaux, Steven D Gore, Rami Komrokji
While lenalidomide (LEN) is the standard of care for the lower-risk myelodysplastic syndromes (MDS) patients with deletion 5q, 35% will not respond to or do not tolerate the drug. Moreover, most of the patients will lose their response after a few years. Defining the outcome of patients with LEN failure and determining the impact of subsequent therapies is therefore important to develop alternative strategies. Based on an international collaboration, we were able to compile a total of 392 patient cases of lower-risk MDS patients with 5q deletion and to analyze their outcome after failure of lenalidomide...
June 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28621321/bcor-is-a-robust-diagnostic-immunohistochemical-marker-of-genetically-diverse-high-grade-endometrial-stromal-sarcoma-including-tumors-exhibiting-variant-morphology
#20
Sarah Chiang, Cheng-Han Lee, Colin J R Stewart, Esther Oliva, Lien N Hoang, Rola H Ali, Martee L Hensley, Javier A Arias-Stella, Denise Frosina, Achim A Jungbluth, Ryma Benayed, Marc Ladanyi, Meera Hameed, Lu Wang, Yu-Chien Kao, Cristina R Antonescu, Robert A Soslow
Recognition of high-grade endometrial stromal sarcoma is important because of its aggressive clinical behavior. Morphologic features of YWHAE-NUTM2 high-grade endometrial stromal sarcoma may overlap with other uterine sarcoma types. BCOR immunoexpression was studied in these tumors and their morphologic mimics to assess its diagnostic utility. BCOR immunohistochemical staining was performed on archival tissue from 28 high-grade endometrial stromal sarcomas with classic morphology (20 YWHAE-NUTM2, 5 ZC3H7B-BCOR, 3 BCOR-ZC3H7B), 3 high-grade endometrial stromal sarcomas with unusual morphology and unknown gene rearrangement status, 66 low-grade endometrial stromal sarcomas, 21 endometrial stromal nodules, 38 uterine leiomyosarcomas, and 19 uterine leiomyomas...
September 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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