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https://www.readbyqxmd.com/read/28512244/engineering-and-functional-characterization-of-fusion-genes-identifies-novel-oncogenic-drivers-of-cancer
#1
Hengyu Lu, Nicole Villafane, Turgut Dogruluk, Caitlin L Grzeskowiak, Kathleen Kong, Yiu Huen Tsang, Oksana Zagorodna, Angeliki Pantazi, Lixing Yang, Nicholas J Neill, Young Won Kim, Chad J Creighton, Roel G Verhaak, Gordon B Mills, Peter Park, Raju S Kucherlapati, Kenneth L Scott
Oncogenic gene fusions drive many human cancers, but tools to more quickly unravel their functional contributions are needed. Here we describe methodology permitting fusion gene construction for functional evaluation. Using this strategy, we engineered the known fusion oncogenes, BCR-ABL1, EML4-ALK, and ETV6-NTRK3, as well as 20 previously uncharacterized fusion genes identified in TCGA datasets. In addition to confirming oncogenic activity of the known fusion oncogenes engineered by our construction strategy, we validated five novel fusion genes involving MET, NTRK2, and BRAF kinases that exhibited potent transforming activity and conferred sensitivity to FDA-approved kinase inhibitors...
May 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28503786/use-of-fluorescent-in-situ-hybridisation-in-salivary-gland-cytology-a-powerful-diagnostic-tool
#2
S M Evrard, J Meilleroux, G Daniel, C Basset, L Lacoste-Collin, S Vergez, E Uro-Coste, M Courtade-Saidi
OBJECTIVE: Salivary gland cytology is challenging because it includes a diversity of lesions and a wide spectra of tumours. Recently, it has been reported that many types of salivary gland tumours have specific molecular diagnostic signatures that could be identified by fluorescent in-situ hybridisation (FISH). The aim of the present study was to demonstrate the feasibility and efficiency of FISH on routine cytological salivary gland smears. METHODS: FISH was conducted on 37 cytological salivary gland smears from 34 patients...
May 15, 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/28500740/children-with-low-risk-acute-lymphoblastic-leukemia-are-at-highest-risk-of-second-cancers
#3
Stine N Nielsen, Frank Eriksson, Susanne Rosthoej, Mette K Andersen, Erik Forestier, Henrik Hasle, Lisa L Hjalgrim, Ann Aasberg, Jonas Abrahamsson, Mats Heyman, Ólafur G Jónsson, Kaie Pruunsild, Goda E Vaitkeviciené, Kim Vettenranta, Kjeld Schmiegelow
BACKGROUND: The improved survival rates for childhood acute lymphoblastic leukemia (ALL) may be jeopardized by the development of a second cancer, which has been associated with thiopurine therapy. PROCEDURE: We retrospectively analyzed three sequential Nordic Society of Paediatric Haematology and Oncology's protocols characterized by increasing intensity of thiopurine-based maintenance therapy. We explored the risk of second cancer in relation to protocols, risk group, thiopurine methyltransferase (TPMT) activity, ALL high hyperdiploidy (HeH), and t(12;21)[ETV6/RUNX1]...
May 13, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28497708/salivary-gland-secretory-carcinoma-with-high-grade-transformation-cdkn2a-b-loss-distant-metastasis-and-lack-of-sustained-response-to-crizotinib
#4
Nicole A Cipriani, Elizabeth A Blair, Joshua Finkle, Jennifer L Kraninger, Christopher M Straus, Victoria M Villaflor, Daniel Thomas Ginat
BACKGROUND: Salivary gland secretory carcinoma is usually a low-grade neoplasm. However, high-grade transformation can occur and has important implications for clinical outcome. METHODS: A patient presented with an enlarging buccal mass. Magnetic resonance imaging (MRI) showed a tumor with a biphasic appearance along the right parotid duct. Local excision and histopathologic examination confirmed the diagnosis of secretory carcinoma with high-grade transformation...
May 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28487787/ebv-negative-monomorphic-b-cell-posttransplant-lymphoproliferative-disorder-with-marked-morphologic-pleomorphism-and-pathogenic-mutations-in-asxl1-bcor-cdkn2a-nf1-and-tp53
#5
Agata M Bogusz
Posttransplant lymphoproliferative disorders (PTLDs) are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV). EBV-negative PTLDs appear to represent a distinct entity. This report describes an unusual case of a 33-year-old woman that developed a monomorphic EBV-negative PTLD consistent with diffuse large B-cell lymphoma (DLBCL) 13 years after heart-lung transplant. Histological examination revealed marked pleomorphism of the malignant cells including nodular areas reminiscent of classical Hodgkin lymphoma (cHL) with abundant large, bizarre Hodgkin-like cells...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28484662/utility-of-immunohistochemistry-and-etv6-12p13-gene-rearrangement-in-identifying-secretory-carcinoma-of-salivary-gland-among-previously-diagnosed-cases-of-acinic-cell-carcinoma
#6
Rana Naous, Shengle Zhang, Alfredo Valente, Melissa Stemmer, Kamal K Khurana
Objective. Secretory carcinoma is a recently described entity with characteristic immunoprofile and ETV6 (12p13) rearrangement. Before its initial description, it was generally diagnosed as acinic cell carcinoma (ACCi). We evaluated immunoprofile and ETV6 rearrangement in cytological and surgical cases of previously diagnosed ACCi, in an attempt to identify any misclassified SC. Methods. Fifteen cytology and surgical cases of ACCi diagnosed over a 13-year period were retrieved and subjected to immunohistochemistry for S-100, mammaglobin, GATA-3 and DOG-1 as well as FISH for ETV6 (12p13)...
2017: Pathology Research International
https://www.readbyqxmd.com/read/28478739/translocation-renal-cell-carcinoma-in-a-child-previously-treated-for-infantile-fibrosarcoma
#7
Jing Ma, Ci Pan, Minzhi Yin
We report a child who developed a TFE3/Xp11.2 translocation renal cell carcinoma (RCC) when he was 3 years and 3 months old, after previous treatment for infantile fibrosarcoma (IFS). When he was 3 months old, a left axilla mass has been detected, which was tan and solid, was 1.5 cm in greatest dimension, and composed of sheets of spindle cells that was positive for vimentin and fibronectin. Fluorescence in situ hybridization showed positive result in ETV6 gene rearrangements. The final diagnosis was IFS...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28476198/copy-number-alterations-associated-with-acute-lymphoblastic-leukemia-in-mexican-children-a-report-from-the-mexican-inter-institutional-group-for-the-identification-of-the-causes-of-childhood-leukemia
#8
Beatriz Rosales-Rodríguez, Fernando Fernández-Ramírez, Juan Carlos Núñez-Enríquez, Ana Claudia Velázquez-Wong, Aurora Medina-Sansón, Elva Jiménez-Hernández, Janet Flores-Lujano, José Gabriel Peñaloza-González, Rosa Martha Espinosa-Elizondo, María Luisa Pérez-Saldívar, José Refugio Torres-Nava, Jorge Alfonso Martín-Trejo, Gabriela Bibiana Martínez-Morales, Vilma Carolina Bekker-Méndez, Juan Manuel Mejía-Aranguré, Haydee Rosas-Vargas
B-cell precursor acute lymphocytic leukemia (B-ALL) represents a worldwide public health issue. Particularly, Mexico is one of the countries with the highest incidence of ALL in children. Between the multiple factors involved in ALL etiology, genetic alterations are clearly one of the most relevant features. In this work, a group of 24 B-ALL patients, all negative for the four most frequent gene fusions (ETV6-RUNX1, BCR-ABL1, TCF3-PBX1 and MLL-AF4), were included in a high-resolution microarray analysis in order to evaluate genomic copy-number alterations (CNAs)...
November 2016: Archives of Medical Research
https://www.readbyqxmd.com/read/28476192/gene-expression-profiling-of-acute-lymphoblastic-leukemia-in-children-with%C3%A2-very-early-relapse
#9
Juan Carlos Núñez-Enríquez, Diego Alberto Bárcenas-López, Alfredo Hidalgo-Miranda, Elva Jiménez-Hernández, Vilma Carolina Bekker-Méndez, Janet Flores-Lujano, Karina Anastacia Solis-Labastida, Gabriela Bibiana Martínez-Morales, Fausto Sánchez-Muñoz, Laura Eugenia Espinoza-Hernández, Martha Margarita Velázquez-Aviña, Laura Elizabeth Merino-Pasaye, Alejandra Jimena García Velázquez, María Luisa Pérez-Saldívar, Raúl Mojica-Espinoza, Julián Ramírez-Bello, Silvia Jiménez-Morales, Juan Manuel Mejía-Aranguré
BACKGROUND AND AIMS: Acute lymphoblastic leukemia (ALL) is the most common childhood cancer worldwide. Mexican patients have high mortality rates, low frequency of good prognosis biomarkers (i.e., ETV6-RUNX1) and a high proportion is classified at the time of diagnosis with a high risk to relapse according to clinical features. In addition, very early relapses are more frequently observed than in other populations. The aim of the study was to identify new potential biomarkers associated with very early relapse in Mexican ALL children through transcriptome analysis...
November 2016: Archives of Medical Research
https://www.readbyqxmd.com/read/28457514/simple-screening-method-for-copy-number-variations-associated-with-physical-features
#10
Misuzu Ueki, Haruo Takeshita, Junko Fujihara, Kaori Kimura-Kataoka, Reiko Iida, Toshihiro Yasuda
Recent studies of copy number variations (CNVs) associated with physical features, such as body mass index, body height or bone length, have suggested that such CNVs could serve as markers in forensic cases involving unidentified individuals. However, the process of cataloging CNVs has been slow because of the cumbersome nature and low reliability of the procedures involved. Here we describe a simple quantitative real-time PCR (Q-PCR) method for screening of medicolegally useful CNVs, which does not require reference DNA with known copy number...
March 2017: Legal Medicine
https://www.readbyqxmd.com/read/28436622/congenital-intestinal-fibrosarcoma-with-rapid-recurrence-requiring-adjuvant-chemotherapy
#11
Wing Shan Queenie See, Daniel Ka Leung Cheuk, Ka Fai To, Philip Pun Ching Ip, Alan Kwok Shing Chiang, Shau Yin Ha, Godfrey Chi Fung Chan
A total of 16 cases of congenital fibrosarcoma have been reported from 1975 to March 2015. Five of the 16 had abnormal fusion between erythroblast transformation specific translocation variant 6 and neurotrophin recptor gene neurotrophic tyrosine kinase, receptor, type 3 (ETV6-NTRK3); in another five out of 16 this was absent, and six were not tested. All were managed by surgical resection but none involved metastasis. Herein we report the case of a newborn baby girl with congenital fibrosarcoma negative for ETV6-NTRK3 gene fusion, who presented with ileal perforation and positive resection margin...
April 24, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28418909/pathogenesis-of-etv6-runx1-positive-childhood-acute-lymphoblastic-leukemia-and-mechanisms-underlying-its-relapse
#12
REVIEW
Congcong Sun, Lixian Chang, Xiaofan Zhu
ETV6/RUNX1 (E/R) is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL). Multiple lines of evidence imply a "two-hit" model for the molecular pathogenesis of E/R-positive ALL, whereby E/R rearrangement is followed by a series of secondary mutations that trigger overt leukemia. The cellular framework in which E/R arises and the maintenance of a pre-leukemic condition by E/R are fundamental to the mechanism that underlies leukemogenesis. Accordingly, a variety of studies have focused on the relationship between the clones giving rise to the primary and recurrent E/R-positive ALL...
March 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28416505/hematopoietic-transcription-factors-mutations-important-players-in-inherited-platelet-defects
#13
Natthapol Songdej, A Koneti Rao
Transcription factors (TF) are proteins that bind to specific DNA sequences and regulate expression of genes. The molecular and genetic mechanisms in most patients with inherited platelet defects are unknown. There is now increasing evidence that mutations in hematopoietic TFs are an important underlying cause for defects in platelet production, morphology, and function. The hematopoietic TFs implicated in patients with impaired platelet function and number include runt related transcription factor 1 (RUNX1), Fli-1 proto-oncogene, ETS transcription factor (FLI1), GATA-binding protein 1 (GATA1), growth factor independent 1B transcriptional repressor (GFI1B), ETS variant 6 (ETV6), ecotropic viral integration site 1 (EVI1), and homeobox A11 (HOXA11)...
April 17, 2017: Blood
https://www.readbyqxmd.com/read/28415763/low-numbers-of-pre-leukemic-fusion-genes-are-frequently-present-in-umbilical-cord-blood-without-affecting-dna-damage-response
#14
Pavol Kosik, Milan Skorvaga, Matus Durdik, Lukas Jakl, Ekaterina Nikitina, Eva Markova, Katarina Kozics, Eva Horvathova, Igor Belyaev
Despite widely accepted notion that many childhood leukemias are likely developed from hematopoietic stem/progenitor cells (HSPC) with pre-leukemic fusion genes (PFG) formed in embryonic/fetal development, the data on PFG incidence in newborns are contradictive. To provide a better understanding of a prenatal origin of leukemia, umbilical cord blood from 500 newborns was screened for the presence of the most frequent PFG associated with pediatric B-cell acute lymphoblastic leukemia. This screening revealed relatively high incidence of ETV6-RUNX1, BCR-ABL1 (p190) and MLL-AF4 at very low frequencies, averaging ~14 copies per 100,000 cells...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28413396/mammary-analogue-secretory-carcinoma-presenting-as-a-cervical-lymph-node-metastasis-of-unknown-primary-site-a-case-report
#15
Kensuke Suzuki, Masao Yagi, Akira Kanda, Yoshiki Kobayashi, Masaya Konishi, Chika Miyasaka, Takashi Tashiro, Hiroshi Iwai
BACKGROUND: Mammary analogue secretory carcinoma (MASC) is a pathological entity arising in the salivary glands first described by Skalova et al. [Am J Surg Pathol 2010;34: 599-608]. Here, we report the first case of MASC presenting as a cervical lymph node metastasis of unknown primary site together with a brief review of the literature. CASE REPORT: We present a 74-year-old male with a painless lump in his left neck. Based on the fine-needle aspiration cytological findings, a possible malignant tumor was suspected...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28408464/targetable-kinase-gene-fusions-in-high-risk-b-all-a-study-from-the-children-s-oncology-group
#16
Shalini C Reshmi, Richard C Harvey, Kathryn G Roberts, Eileen Stonerock, Amy Smith, Heather Jenkins, I-Ming Chen, Marc Valentine, Yu Liu, Yongjin Li, Ying Shao, John Easton, Debbie Payne-Turner, Zhaohui Gu, Thai Hoa Tran, Jonathan V Nguyen, Meenakshi Devidas, Yunfeng Dai, Nyla A Heerema, Andrew J Carroll, Elizabeth A Raetz, Michael J Borowitz, Brent L Wood, Anne L Angiolillo, Michael J Burke, Wanda L Salzer, Patrick A Zweidler-McKay, Karen R Rabin, William L Carroll, Jinghui Zhang, Mignon L Loh, Charles G Mullighan, Cheryl L Willman, Julie M Gastier-Foster, Stephen P Hunger
Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is a high-risk subtype characterized by genomic alterations that activate cytokine receptor and kinase signaling. We examined the frequency and spectrum of targetable genetic lesions in a retrospective cohort of 1389 consecutively diagnosed childhood B-ALL patients with high-risk clinical features and/or elevated minimal residual disease at the end of remission induction therapy. The Ph-like gene expression profile was identified in 341 of 1389 patients, 57 of which were excluded from additional analysis because of the presence of BCR-ABL1 (n=46) or ETV6-RUNX1 (n=11)...
April 13, 2017: Blood
https://www.readbyqxmd.com/read/28401483/molecular-profiling-of-gene-copy-number-abnormalities-in-key-regulatory-genes-in-high-risk-b-lineage-acute-lymphoblastic-leukemia-frequency-and-their-association-with-clinicopathological-findings-in-indian-patients
#17
Prerana Bhandari, Firoz Ahmad, Bibhu Ranjan Das
Genes related to key cellular pathways are frequently altered in B cell ALL and are associated with poor survival especially in high-risk (HR) subgroups. We examined gene copy number abnormalities (CNA) in 101 Indian HR B cell ALL patients and their correlation with clinicopathological features by multiplex ligation-dependent probe amplification. Overall, CNA were detected in 59 (59%) cases, with 26, 10 and 23% of cases harboring 1, 2 or +3 CNA. CNA were more prevalent in BCR-ABL1 (60%), pediatric (64%) and high WCC (WBC count) (63%) patients...
May 2017: Medical Oncology
https://www.readbyqxmd.com/read/28395118/etv6-runx1-like-acute-lymphoblastic-leukemia-a-novel-b-cell-precursor-leukemia-subtype-associated-with-the-cd27-cd44-immunophenotype
#18
Marketa Zaliova, Michaela Kotrova, Silvia Bresolin, Jan Stuchly, Jan Stary, Ondrej Hrusak, Geertruy Te Kronnie, Jan Trka, Jan Zuna, Martina Vaskova
We have shown previously that ETV6/RUNX1-positive acute lymphoblastic leukemia (ALL) is distinguishable from other ALL subtypes by CD27(pos) /CD44(low-neg) immunophenotype. During diagnostic immunophenotyping of 573 childhood B-cell precursor ALL (BCP-ALL), we identified eight cases with this immunophenotype among "B-other ALL" (BCP-ALL cases negative for routinely tested chromosomal/genetic aberrations). We aimed to elucidate whether these cases belong to the recently described ETV6/RUNX1-like ALL defined by the ETV6/RUNX1-specific gene expression profile (GEP), harboring concurrent ETV6 and IKZF1 lesions...
April 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28388552/myelodysplastic-syndromes-advantages-of-a-combined-cytogenetic-and-molecular-diagnostic-workup
#19
Elena Ciabatti, Angelo Valetto, Veronica Bertini, Maria Immacolata Ferreri, Alice Guazzelli, Susanna Grassi, Francesca Guerrini, Iacopo Petrini, Maria Rita Metelli, Maria Adelaide Caligo, Simona Rossi, Sara Galimberti
In this study we present a new diagnostic workup for the myelodysplastic syndromes (MDS) including FISH, aCGH, and somatic mutation assays in addition to the conventional cytogenetics (CC). We analyzed 61 patients by CC, FISH for chromosome 5, 7, 8 and PDGFR rearrangements, aCGH, and PCR for ASXL1, EZH2, TP53, TET2, RUNX1, DNMT3A, SF3B1 somatic mutations. Moreover, we quantified WT1 and RPS14 gene expression levels, in order to find their possible adjunctive value and their possible clinical impact. CC analysis showed 32% of patients with at least one aberration...
March 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28387584/deregulation-of-the-non-coding-genome-in-leukemia
#20
Susanna Teppo, Merja Heinäniemi, Olli Lohi
Methodological advances that allow deeper characterization of non-coding elements in the genome have started to reveal the full spectrum of deregulation in cancer. We generated an inducible cell model to track transcriptional changes after induction of a well-known leukemia-inducing fusion gene, ETV6-RUNX1. Our data revealed widespread transcriptional alterations outside coding elements in the genome. This adds to the growing list of various alterations in the non-coding genome in cancer and pinpoints their role in diseased cellular state...
April 7, 2017: RNA Biology
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