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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/28530220/presence-of-invasive-cribriform-or-intraductal-growth-at-biopsy-outperforms-percentage-grade-4-in-predicting-outcome-of-gleason-score-3-4-7-prostate-cancer
#1
Charlotte F Kweldam, Intan P Kümmerlin, Daan Nieboer, Ewout W Steyerberg, Chris H Bangma, Luca Incrocci, Theodorus H van der Kwast, Monique J Roobol, Geert J van Leenders
Relative increase of grade 4 and presence of invasive cribriform and/or intraductal carcinoma have individually been associated with adverse outcome of Gleason score 7 (GS 7) prostate cancer. The objective of this study was to investigate the relation of Gleason grade 4 tumor percentage (%GG4) and invasive cribriform and/or intraductal carcinoma in GS 3+4=7 prostate cancer biopsies. We reviewed 1031 prostate cancer biopsies from the European Randomized Study of Screening for Prostate Cancer. In total 370 men had G3+4=7...
May 19, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28452373/endometrial-cancer-gene-panels-clinical-diagnostic-vs-research-germline-dna-testing
#2
REVIEW
Amanda B Spurdle, Michael A Bowman, Jannah Shamsani, Judy Kirk
Endometrial cancer is the most common gynecological cancer, but is nevertheless uncommon enough to have value as a signature cancer for some hereditary cancer syndromes. Commercial multigene testing panels include up to 13 different genes annotated for germline DNA testing of patients with endometrial cancer. Many other genes have been reported as relevant to familial endometrial cancer from directed genome-wide sequencing studies or multigene panel testing, or research. This review assesses the evidence supporting association with endometrial cancer risk for 32 genes implicated in hereditary endometrial cancer, and presents a summary of rare germline variants in these 32 genes detected by analysis of quasi-population-based endometrial cancer patients from The Cancer Genome Atlas project...
April 28, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28429716/polyembryoma-of-the-testis-a-report-of-two-cases-dominant-within-mixed-germ-cell-tumors-and-review-of-gonadal-polyembryomas
#3
REVIEW
Jennifer N Stall, Robert H Young
Two testicular mixed germ cell tumors, from men of 21 and 41 years, in which polyembryoma predominated are described. A literature review uncovered an additional five testicular and nine ovarian cases. One tumor occurred in a 60-year-old man, but all others occurred within the typical age range of gonadal germ cell tumors. One male presented with gynecomastia and one female with sexual precocity, but all otherwise had standard clinical manifestations. These tumors are typically large with non-specific gross features, but a few have a prominent hemorrhagic appearance...
April 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28429715/mapping-clinicopathological-entities-within-colorectal-mucinous-adenocarcinomas-a-hierarchical-clustering-approach
#4
Charly Liddell, Laure Droy-Dupré, Sylvie Métairie, Fabrice Airaud, Christelle Volteau, Stéphane Bezieau, Christian L Laboisse, Jean-François Mosnier
The aim of this study was to interrogate the heterogeneity of colorectal mucinous adenocarcinomas. This study is based on hierarchical clustering approach combining clinicopathological and molecular patterns known to be relevant to oncogenesis and therapeutic management of patients with colorectal carcinoma, ie, microsatellite instability, O6-methylguanine-DNA methyltransferase (MGMT) status, KRAS, and BRAF mutations and wnt signaling pathway activation. Comparison of the study group of 60 mucinous adenocarcinomas defined according to World Health Organization classification with control group of 136 colorectal adenocarcinomas successively removed shows higher frequency of BRAF and KRAS mutations and microsatellite instability-high status and lower frequency of wnt signaling pathway activation in mucinous adenocarcinomas...
April 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28409567/sf3b1-and-bap1-mutations-in-blue-nevus-like-melanoma
#5
Klaus G Griewank, Hansgeorg Müller, Louise A Jackett, Michael Emberger, Inga Möller, Johannes Ap van de Nes, Lisa Zimmer, Elisabeth Livingstone, Thomas Wiesner, Simone L Scholz, Ioana Cosgarea, Antje Sucker, Tobias Schimming, Uwe Hillen, Bastian Schilling, Annette Paschen, Henning Reis, Thomas Mentzel, Heinz Kutzner, Arno Rütten, Rajmohan Murali, Richard A Scolyer, Dirk Schadendorf
Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations)...
April 14, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28387325/hpv-negative-penile-squamous-cell-carcinoma-disruptive-mutations-in-the-tp53-gene-are-common
#6
Karl Kashofer, Elke Winter, Iris Halbwedl, Andrea Thueringer, Marisa Kreiner, Stefan Sauer, Sigrid Regauer
The majority of penile squamous cell carcinomas is caused by transforming human papilloma virus (HPV) infection. The etiology of HPV-negative cancers is unclear, but TP53 mutations have been implicated. Archival tissues of 108 invasive squamous cell carcinoma from a single pathology institution in a low-incidence area were analyzed for HPV-DNA and p16(ink4a) overexpression and for TP53 mutations by ion torrent next-generation sequencing. Library preparation failed in 32/108 squamous cell carcinomas. Institutional review board approval was obtained...
April 7, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28339425/potential-role-of-the-ovol1-ovol2-axis-and-c-myc-in-the-progression-of-cutaneous-squamous-cell-carcinoma
#7
Takamichi Ito, Gaku Tsuji, Fumitaka Ohno, Takeshi Nakahara, Hiroshi Uchi, Masutaka Furue
OVOL1 and OVOL2 are ubiquitously conserved genes encoding C2H2 zinc-finger transcription factors in mammals. They promote epithelial cell proliferation, differentiation, and mesenchymal-to-epithelial transition, coordinately mediated via the Wnt signaling pathway. We previously reported that human OVOL1 and OVOL2 were preferentially expressed in the normal epidermis and hair follicles as well as their tumors, and found that OVOL1 is upregulated in Bowen's disease and downregulated in cutaneous squamous cell carcinoma...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28338654/tfeb-vegfa-6p21-1-co-amplified-renal-cell-carcinoma-a-distinct-entity-with-potential-implications-for-clinical-management
#8
Sounak Gupta, Sarah H Johnson, George Vasmatzis, Binu Porath, Jeannette G Rustin, Priya Rao, Brian A Costello, Bradley C Leibovich, R Houston Thompson, John C Cheville, William R Sukov
A subset of renal cell carcinomas shows TFEB overexpression secondary to MALAT1-TFEB gene fusion. As alternate mechanisms of TFEB overexpression are likely to have the same effect, we sought to determine the frequency of amplification of TFEB and the adjacent VEGFA gene at 6p21.1. As patients with metastatic renal cell carcinomas are managed with anti-VEGF therapies, we retrospectively assessed therapeutic response in patients with amplified tumors. Amplification status was analyzed for 875 renal cell carcinomas from our institution, a consultative case and 794 cases from The Cancer Genome Atlas...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28338653/breast-ductal-carcinoma-in-situ-carry-mutational-driver-events-representative-of-invasive-breast-cancer
#9
Jia-Min B Pang, Peter Savas, Andrew P Fellowes, Gisela Mir Arnau, Tanjina Kader, Ravikiran Vedururu, Chelsee Hewitt, Elena A Takano, David J Byrne, David Yh Choong, Ewan Ka Millar, C Soon Lee, Sandra A O'Toole, Sunil R Lakhani, Margaret C Cummings, G Bruce Mann, Ian G Campbell, Alexander Dobrovic, Sherene Loi, Kylie L Gorringe, Stephen B Fox
The spectrum of genomic alterations in ductal carcinoma in situ (DCIS) is relatively unexplored, but is likely to provide useful insights into its biology, its progression to invasive carcinoma and the risk of recurrence. DCIS (n=20) with a range of phenotypes was assessed by massively parallel sequencing for mutations and copy number alterations and variants validated by Sanger sequencing. PIK3CA mutations were identified in 11/20 (55%), TP53 mutations in 6/20 (30%), and GATA3 mutations in 9/20 (45%). Screening an additional 91 cases for GATA3 mutations identified a final frequency of 27% (30/111), with a high proportion of missense variants (8/30)...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28338652/3q26-2-evi1-rearrangement-is-associated-with-poor-prognosis-in-classical-philadelphia-chromosome-negative-myeloproliferative-neoplasms
#10
Zhihong Hu, L Jeffrey Medeiros, Wei Wang, Zi Chen, Guilin Tang, Parsa Hodjat, Su Yang, Lianghua Fang, Yan Li, Srdan Verstovsek, Shimin Hu
Classical Philadelphia chromosome-negative myeloproliferative neoplasms are a group of closely related myeloid disorders with different histologic features and clinical presentations at an early stage, but all later develop into a similar fibrotic stage with variable risk of acute transformation. The significance of 3q26.2/EVI1 rearrangement has been well recognized in acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28338651/dichotomy-in-intrahepatic-cholangiocarcinomas-based-on-histologic-similarities-to-hilar-cholangiocarcinomas
#11
Masayuki Akita, Kohei Fujikura, Tetsuo Ajiki, Takumi Fukumoto, Kyoko Otani, Takeshi Azuma, Tomoo Itoh, Yonson Ku, Yoh Zen
Intrahepatic cholangiocarcinomas were classified into two types based on their microscopic appearance. Tumors with histologic similarities to hilar cholangiocarcinomas (predominantly ductal adenocarcinomas with minor tubular components, if present, restricted to the invasive front) were defined as the perihilar type, whereas the others were classified as peripheral cholangiocarcinomas. Among the 47 cases examined in the present study, 26 (55%) were classified as the perihilar type, whereas 21 (45%) were the peripheral type...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28304401/a-critical-appraisal-of-the-morphological-criteria-for-diagnosing-intestinal-neuronal-dysplasia-type-b
#12
Simone A Terra, Pedro L de Arruda Lourenção, Márcia G Silva, Hélio A Miot, Maria A M Rodrigues
Intestinal neuronal dysplasia type B is a controversial entity expressed by complex changes in the enteric nervous system. Diagnosis depends on rectal biopsy histopathology and diagnostic criteria, both qualitative and quantitative, have changed over time, hindering the diagnostic practice. We analyzed the morphological criteria for the histological diagnosis of intestinal neuronal dysplasia type B in a series of patients with intestinal neuronal dysplasia type B according to the 1990 Frankfurt Consensus criteria and verified the applicability of the numerical criteria proposed by Meier-Ruge et al in 2004 and 2006...
March 17, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28304400/evaluation-of-p16-ki-67-dual-stained-cytology-as-triage-test-for-high-risk-human-papillomavirus-positive-women
#13
Renée Mf Ebisch, Judith van der Horst, Meyke Hermsen, L Lucia Rijstenberg, Judith Em Vedder, Johan Bulten, Remko P Bosgraaf, Viola Mj Verhoef, Daniëlle Am Heideman, Peter Jf Snijders, Chris Jlm Meijer, Folkert J van Kemenade, Leon Fag Massuger, Willem Jg Melchers, Ruud Lm Bekkers, Albert G Siebers
The aim of this study was to evaluate the clinical utility of p16/Ki-67 dual staining, for the identification of CIN in high-risk HPV-positive women from a non-responder screening cohort. P16/Ki-67 dual staining, Pap cytology, and HPV16/18 genotyping were performed on physician-taken liquid-based samples from 495 women who tested high-risk HPV positive on self-sampled material (PROHTECT-3B study). Different triage strategies involving p16/Ki-67 dual staining were evaluated for sensitivity, specificity, and predictive value for ≥CIN2 and ≥CIN3, and compared to Pap cytology with a threshold of atypical cells of undetermined significance...
March 17, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28281555/nf-%C3%AE%C2%BAb-p50-activation-associated-with-immune-dysregulation-confers-poorer-survival-for-diffuse-large-b-cell-lymphoma-patients-with-wild-type-p53
#14
Qingqing Cai, Meifeng Tu, Zijun Y Xu-Monette, Ruifang Sun, Ganiraju C Manyam, Xiaolu Xu, Alexander Tzankov, Eric D Hsi, Michael B Møller, L Jeffrey Medeiros, Chi Young Ok, Ken H Young
Dysregulated NF-κB signaling is critical for lymphomagenesis, however, the expression and clinical relevance of NF-κB subunit p50 in diffuse large B-cell lymphoma have not been evaluated. In this study, we analyzed the prognostic significance and gene expression signatures of p50 nuclear expression as a surrogate for p50 activation in 465 patients with de novo diffuse large B-cell lymphoma. We found that p50(+) nuclear expression, observed in 34.6% of diffuse large B-cell lymphoma, predominantly composed of activated B-cell-like subtype, was an independent adverse prognostic factor in patients with activated B-cell-like diffuse large B-cell lymphoma...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28281554/additional-structural-chromosomal-aberrations-are-associated-with-inferior-clinical-outcome-in-patients-with-hyperdiploid-multiple-myeloma-a-single-institution-experience
#15
Adrian A Carballo-Zarate, L Jeffrey Medeiros, Lianghua Fang, Jatin J Shah, Donna M Weber, Sheeba K Thomas, Elisabet E Manasanch, Suyang Hao, Qi Shen, Robert Z Orlowski, Pei Lin, Xinyan Lu
Multiple myeloma is cytogenetically heterogeneous and a hyperdiploid karyotype is considered currently to have standard risk. In this study, we investigated the clinical impact of additional-structural-chromosomal aberrations assessed by chromosome analysis in 284 patients with a hyperdiploid karyotype that were subdivided into four groups based on the complexity of additional-structural-chromosomal aberrations: group 1, no additional-structural-chromosomal aberrations (n=35); group 2, one additional-structural-chromosomal aberration (n=46); group 3, two additional-structural-chromosomal aberrations (n=39); group 4, ≥three additional-structural-chromosomal aberrations (n=164)...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28281553/ctnnb1-beta-catenin-mutation-identifies-low-grade-early-stage-endometrial-cancer-patients-at-increased-risk-of-recurrence
#16
Katherine C Kurnit, Grace N Kim, Bryan M Fellman, Diana L Urbauer, Gordon B Mills, Wei Zhang, Russell R Broaddus
Although the majority of low grade, early stage endometrial cancer patients will have good survival outcomes with surgery alone, those patients who do recur tend to do poorly. Optimal identification of the subset of patients who are at high risk of recurrence and would benefit from adjuvant treatment has been difficult. The purpose of this study was to evaluate the impact of somatic tumor mutation on survival outcomes in this patient population. For this study, low grade was defined as endometrioid FIGO grades 1 or 2, while early stage was defined as endometrioid stages I or II (disease confined to the uterus)...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28281552/reaching-the-limits-of-prognostication-in-non-small-cell-lung-cancer-an-optimized-biomarker-panel-fails-to-outperform-clinical-parameters
#17
Marianna Grinberg, Dijana Djureinovic, Hans Rr Brunnström, Johanna Sm Mattsson, Karolina Edlund, Jan G Hengstler, Linnea La Fleur, Simon Ekman, Hirsh Koyi, Eva Branden, Elisabeth Ståhle, Karin Jirström, Derek K Tracy, Fredrik Pontén, Johan Botling, Jörg Rahnenführer, Patrick Micke
Numerous protein biomarkers have been analyzed to improve prognostication in non-small cell lung cancer, but have not yet demonstrated sufficient value to be introduced into clinical practice. Here, we aimed to develop and validate a prognostic model for surgically resected non-small cell lung cancer. A biomarker panel was selected based on (1) prognostic association in published literature, (2) prognostic association in gene expression data sets, (3) availability of reliable antibodies, and (4) representation of diverse biological processes...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28281551/molecular-correlates-and-rate-of-lymph-node-metastasis-of-non-invasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features-and-invasive-follicular-variant-papillary-thyroid-carcinoma-the-impact-of-rigid-criteria-to-distinguish-non-invasive-follicular
#18
Uiju Cho, Ozgur Mete, Min-Hee Kim, Ja Seong Bae, Chan Kwon Jung
Thyroid tumors formerly classified as non-invasive encapsulated follicular variant of papillary thyroid carcinoma were recently renamed 'non-invasive follicular thyroid neoplasm with papillary-like nuclear features'. The current study investigated the frequency of lymph node metastasis and mutational profile of encapsulated follicular variant in the setting of a clinical practice where central neck dissection was the standard of practice. We defined the impact of rigid diagnostic criteria by regrouping such tumors based on the complete absence of papillae or presence of ≤1% papillae...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28281550/reduced-h3k27me3-expression-in-merkel-cell-polyoma-virus-positive-tumors
#19
Klaus J Busam, Melissa P Pulitzer, Daniel C Coit, Maria Arcila, Danielle Leng, Achim A Jungbluth, Thomas Wiesner
Merkel cell carcinoma is a primary cutaneous neuroendocrine carcinoma, which once metastatic is difficult to treat. Recent mutation analyses of Merkel cell carcinoma revealed a low number of mutations in Merkel cell polyomavirus-associated tumors, and a high number of mutations in virus-negative combined squamous cell and neuroendocrine carcinomas of chronically sun-damaged skin. We speculated that the paucity of mutations in virus-positive Merkel cell carcinoma may reflect a pathomechanism that depends on derangements of chromatin without alterations in the DNA sequence (epigenetic dysregulation)...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28281549/expression-of-pd-1-and-pd-l1-in-thymic-epithelial-neoplasms
#20
Annikka Weissferdt, Junya Fujimoto, Neda Kalhor, Jaime Rodriguez, Roland Bassett, Ignacio I Wistuba, Cesar A Moran
Thymic epithelial neoplasms are rare tumors that are difficult to diagnose and treat. Programmed death 1 (PD-1) receptor and its ligand (PD-L1) are expressed by various malignancies and are considered a prognostic factor and immunotherapeutic target. We examined the expression of both antibodies in 100 thymic epithelial neoplasms to assess their use as a biomarker and to correlate their expression with clinicopathological parameters. Whole-tissue sections of 74 thymomas and 26 thymic carcinomas were examined...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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