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Martina Baneckova, Abbas Agaimy, Simon Andreasen, Tomas Vanecek, Petr Steiner, David Slouka, Tomas Svoboda, Marketa Miesbauerova, Michael Michal, Alena Skálová
Secretory carcinoma, originally described as mammary analog secretory carcinoma (MASC), is a low-grade salivary gland tumor characterized by a t(12;15)(p13;q25) translocation, resulting in an ETV6-NTRK3 gene fusion. Most MASCs are localized to the parotid gland and intraoral minor salivary glands. Moreover, ETV6-rearranged carcinomas with secretory features have been reported recently in the thyroid (with and without a history of radiation exposure), skin, and in very rare instances in the sinonasal tract. Here, we describe 2 cases of primary MASC in the sinonasal tract and provide a detailed clinical and histopathologic characterization of their morphology, immunohistochemical profile, and genetic background and highlight features allowing for its separation from its recently described molecular mimicker, ETV6-rearranged low-grade sinonasal adenocarcinoma...
March 14, 2018: American Journal of Surgical Pathology
Jingyi Li, Jie Xu, Lynne V Abruzzo, Guilin Tang, Shaoying Li, M James You, Gary Lu, Elias J Jabbour, Qi Deng, Carlos E Bueso-Ramos, L Jeffrey Medeiros, C Cameron Yin
We describe the clinical, morphologic, immunophenotypic and molecular genetic features of 15 cases of acute myeloid leukemia (AML) with t(4;12)(q12;p13). There were 9 men and 6 women, with a median age of 50 years (range, 17-76). Most patients had hypercellular bone marrow with a median blast count of 58% and multilineage dysplasia. Flow cytometry analysis showed myeloid lineage with blasts positive for CD13, CD33, CD34, CD38, CD117 and HLA-DR. Interestingly, aberrant CD7 expression was detected in 12/14 cases, and myeloperoxidase was either negative (3/15) or positive in only a small subset of the blasts (12/15)...
February 16, 2018: Oncotarget
Q Y Lao, M Sun, L Yu, J Wang
Objective: To investigate the clinicopathological characteristics and differential diagnosis of lipofibromatosis. Methods: The clinicopathological features and immunohistochemical profiles in 8 cases of lipofibromatosis diagnosed at Fudan University Shanghai Cancer Center from January 2008 to June 2017 were studied. Molecular analysis of β-catenin mutation by Sanger sequencing, NTKR1 and ETV6 rearrangements by FISH were performed. The follow up information was evaluated and the literature was reviewed. Results: There were 4 males and 4 females with a median age of 1...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Łukasz Sędek, Prisca Theunissen, Elaine Sobral da Costa, Alita van der Sluijs-Gelling, Ester Mejstrikova, Giuseppe Gaipa, Alicja Sonsala, Magdalena Twardoch, Elen Oliveira, Michaela Novakova, Chiara Buracchi, Jacques J M van Dongen, Alberto Orfao, Vincent H J van der Velden, Tomasz Szczepański
BACKGROUND: Optimal discrimination between leukemic blasts and normal B-cell precursors (BCP) is critical for treatment monitoring in BCP acute lymphoblastic leukemia (ALL); thus identification of markers differentially expressed on normal BCP and leukemic blasts is required. METHODS: Multicenter analysis of CD73, CD86 and CD304 expression levels was performed in 282 pediatric BCP-ALL patients vs. normal bone marrow BCP, using normalized median fluorescence intensity (nMFI) values...
March 9, 2018: Journal of Immunological Methods
Thai Hoa Tran, Marian H Harris, Jonathan V Nguyen, Traci M Blonquist, Kristen E Stevenson, Eileen Stonerock, Barbara L Asselin, Uma H Athale, Luis A Clavell, Peter D Cole, Kara M Kelly, Caroline Laverdiere, Jean-Marie Leclerc, Bruno Michon, Marshall A Schorin, Jennifer J G Welch, Shalini C Reshmi, Donna S Neuberg, Stephen E Sallan, Mignon L Loh, Lewis B Silverman
Recurrent chromosomal rearrangements carry prognostic significance in pediatric B-lineage acute lymphoblastic leukemia (B-ALL). Recent genome-wide analyses identified a high-risk B-ALL subtype characterized by a diverse spectrum of genetic alterations activating kinases and cytokine receptor genes. This subtype is associated with a poor prognosis when treated with conventional chemotherapy but has demonstrated sensitivity to the relevant tyrosine kinase inhibitors. We sought to determine the frequency of kinase-activating fusions among National Cancer Institute (NCI) high-risk, Ph-negative, B-ALL patients enrolled on Dana-Farber Cancer Institute ALL Consortium Protocol 05-001 and to describe their associated clinical characteristics and outcomes...
March 13, 2018: Blood Advances
Martin Stanulla, Elif Dagdan, Marketa Zaliova, Anja Möricke, Chiara Palmi, Giovanni Cazzaniga, Cornelia Eckert, Geertruy Te Kronnie, Jean-Pierre Bourquin, Beat Bornhauser, Rolf Koehler, Claus R Bartram, Wolf-Dieter Ludwig, Kirsten Bleckmann, Stefanie Groeneveld-Krentz, Denis Schewe, Stefanie V Junk, Laura Hinze, Norman Klein, Christian P Kratz, Andrea Biondi, Arndt Borkhardt, Andreas Kulozik, Martina U Muckenthaler, Giuseppe Basso, Maria Grazia Valsecchi, Shai Izraeli, Britt-Sabina Petersen, Andre Franke, Petra Dörge, Doris Steinemann, Oskar A Haas, Renate Panzer-Grümayer, Hélène Cavé, Richard S Houlston, Gunnar Cario, Martin Schrappe, Martin Zimmermann
Purpose Somatic deletions that affect the lymphoid transcription factor-coding gene IKZF1 have previously been reported as independently associated with a poor prognosis in pediatric B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). We have now refined the prognostic strength of IKZF1 deletions by analyzing the effect of co-occurring deletions. Patients and Methods The analysis involved 991 patients with BCP ALL treated in the Associazione Italiana Ematologia ed Oncologia Pediatrica-Berlin-Frankfurt-Muenster (AIEOP-BFM) ALL 2000 trial with complete information for copy number alterations of IKZF1, PAX5, ETV6, RB1, BTG1, EBF1, CDKN2A, CDKN2B, Xp22...
March 2, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Bui Thi Kim Ly, Hoang Thanh Chi
FMS-like tyrosine kinase-3 fragments from exon 14 to the end without any mutations or deletions has been reported to fuse to ETV6 (TEL) in a few cases of myeloid/lymphoid neoplasms with eosinophilia carrying a translocation t(12;13)(p13;q12). This fusion protein confers constitutive activation on FLT3 fragment and induces factor-independent growth in transfected Ba/F3 cells indicating that it is an oncoprotein. However, the mechanism controlling the stability of this oncoprotein is unknown. In this study, we focus on finding factors controlling the stability of ETV6/FLT3...
February 22, 2018: Oncology Research
Yuan-Chin Tsai, Tao Zeng, Wassim Abou-Kheir, Hsiu-Lien Yeh, Juan Juan Yin, Yi-Chao Lee, Wei-Yu Chen, Yen-Nien Liu
BACKGROUND: ETS variant gene 6 (ETV6) is a putative tumor suppressor and repressed by epidermal growth factor receptor (EGFR) signaling in prostate cancer. Since EGFR antagonists seem ineffective in castration-resistant prostate cancer (CRPC), we aim to study the role of ETV6 in the development of drug resistance. METHODS: Etv6 target gene was validated by ChIP and promoter reporter assays. Correlation of ETV6 and TWIST1 was analyzed in human clinical datasets and tissue samples...
February 19, 2018: Molecular Cancer
Aurélie Bruno, Karim Labreche, Maïlys Daniau, Blandine Boisselier, Guillaume Gauchotte, Louis Royer-Perron, Amithys Rahimian, Frédéric Lemoine, Pierre de la Grange, Justine Guégan, Franck Bielle, Marc Polivka, Clovis Adam, David Meyronet, Dominique Figarella-Branger, Chiara Villa, Fabrice Chrétien, Sandrine Eimer, Frédéric Davi, Audrey Rousseau, Caroline Houillier, Carole Soussain, Karima Mokhtari, Khê Hoang-Xuan, Agusti Alentorn
Background: Primary central nervous system lymphoma (PCNSL) represents a particular entity within non-Hodgkin lymphomas and is associated with poor outcome. The present study addresses the potential clinical relevance of chimeric transcripts in PCSNL discovered by using RNA-sequencing (RNA-Seq). Methods: Seventy-two immunocompetent and newly diagnosed PCNSL cases were included in the present study. Among them, six were analyzed by RNA-seq to detect new potential fusion transcripts...
February 8, 2018: Neuro-oncology
Ryota Otsubo, Zhanna Mussazhanova, Yuko Akazawa, Ayako Sato, Katsuya Matsuda, Megumi Matsumoto, Hiroshi Yano, Michiko Matsuse, Norisato Mitsutake, Takao Ando, Daisuke Niino, Takeshi Nagayasu, Masahiro Nakashima
BACKGROUND: There have been great concerns about pediatric thyroid cancers after the accident at the Fukushima Daiichi Nuclear Power Plant in 2011. CASE PRESENTATION: We report a case of a 7-year-old Japanese girl with sporadic papillary thyroid carcinoma (PTC) harboring an ETV6/NTRK3 rearrangement. The patient presented with tumors in both lobes and underwent thyroidectomy followed by radioactive iodine (RAI) ablation. Histopathology showed a classic type of PTC with cervical lymph node metastasis...
February 10, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Magnus A Hjort, Pegah Abdollahi, Esten N Vandsemb, Mona H Fenstad, Bendik Lund, Tobias S Slørdahl, Magne Børset, Torstein B Rø
Phosphatase of regenerating liver-3 (PRL-3/PTP4A3) is upregulated in multiple cancers, including BCR-ABL1- and ETV6-RUNX-positive acute lymphoblastic leukemia (ALL). With this study, we aim to characterize the biological role of PRL-3 in B cell ALL (B-ALL). Here, we demonstrate that PRL-3 expression at mRNA and protein level was higher in B-ALL cells than in normal cells, as measured by qRT-PCR or flow cytometry. Further, we demonstrate that inhibition of PRL-3 using shRNA or a small molecular inhibitor reduced cell migration towards an SDF-1α gradient in the preB-ALL cell lines Reh and MHH-CALL-4...
January 9, 2018: Oncotarget
Julie-Charlotte Benabu, François Stoll, Antoine Koch, Sébastien Molière, Jean-Pierre Bellocq, Carole Mathelin
Triple negative breast cancers have the highest relapse risk and the least favourable prognosis of all breast cancer subtypes, leading to an escalation of chemotherapy, substantially during recent years. Secretory carcinoma of the breast is a rare triple negative neoplasm, first described in children but more often presenting in adults. We report a case of a 70-years-old woman, initially diagnosed on the biopsy with a triple negative infiltrating NOS (Not Otherwise Specified) carcinoma of the breast, before it was later correctly identified as a secretory carcinoma, notably because of an abundant intra and extracellular secretory material...
January 30, 2018: Journal of Gynecology Obstetrics and Human Reproduction
Esther Tijchon, Liesbeth van Emst, Laurensia Yuniati, Dorette van Ingen Schenau, Mylène Gerritsen, Laurens T van der Meer, Owen Williams, Peter M Hoogerbrugge, Blanca Scheijen, Frank N van Leeuwen
Translocation t(12;21) (p13;q22), giving rise to the ETV6-RUNX1 fusion gene, is the most common genetic abnormality in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). This translocation usually arises in utero, but its expression is insufficient to induce leukemia and requires other cooperating genetic lesions for BCP-ALL to develop. Deletions affecting the transcriptional coregulator BTG1 are frequently observed in ETV6-RUNX1-positive leukemia. Here we show that Btg1 deficiency enhances the self-renewal capacity of ETV6-RUNX1 positive mouse fetal liver derived hematopoietic progenitors (FL-HPCs)...
February 2, 2018: Experimental Hematology
Minu Singh, Prateek Bhatia, Amita Trehan, Neelam Varma, Manupdesh Singh Sachdeva, Deepak Bansal, Richa Jain, Shano Naseem
Copy number abnormalities (CNAs) and recurrent fusion transcripts are important genetic events which define and prognosticate B-Cell Acute Lymphoblastic Leukemia (B-ALL). We evaluated CNAs and fusion transcripts in 67 pediatric B-ALL cases and correlated the data with standard risk factors and early treatment outcome parameters. Common fusion transcripts ETV6-RUNX1, E2A-PBX, BCR-ABL1 and MLL-AF4 were examined by RT-PCR and noted in 15%, 15%, 13% and 1.4% of all cases respectively. CNAs in IKZF1, PAX5, EBF1, BTG1, RB1, CDKN2A/B and genes from PAR1 region viz...
February 2, 2018: Leukemia Research
Jinah Park, Junil Kim, Bora Park, Kyung-Min Yang, Eun Jin Sun, Cristina E Tognon, Poul H Sorensen, Seong-Jin Kim
Chromosomal rearrangements that facilitate tumor formation and progression through activation of oncogenic tyrosine kinases are frequently observed in cancer. The ETV6-NTRK3 (EN) fusion has been implicated in various cancers, including infantile fibrosarcoma, secretory breast carcinoma, and acute myeloblastic leukemia, and has exhibited in vivo and in vitro transforming ability. In the present study, we analyzed transcriptome alterations using DNA microarray and RNA-Seq in EN-transduced NIH3T3 fibroblasts to identify the mechanisms that are involved in EN-mediated tumorigenesis...
February 2, 2018: Oncogene
Michael W Drazer, Sabah Kadri, Madina Sukhanova, Sushant A Patil, Allison H West, Simone Feurstein, Dalein A Calderon, Matthew F Jones, Caroline M Weipert, Christopher K Daugherty, Adrián A Ceballos-López, Gordana Raca, Mark W Lingen, Zejuan Li, Jeremy P Segal, Jane E Churpek, Lucy A Godley
Next-generation sequencing (NGS)-based targeted gene capture panels are used to profile hematopoietic malignancies to guide prognostication and treatment decisions. Because these panels include genes associated with hereditary hematopoietic malignancies (HHMs), we hypothesized that these panels could identify pathogenic germ line variants in malignant cells, thereby identifying patients at risk for HHMs. In total, pathogenic or likely pathogenic variants in ANKRD26 , CEBPA , DDX41 , ETV6 , GATA2 , RUNX1 , or TP53 were identified in 74 (21%) of 360 patients...
January 23, 2018: Blood Advances
Heike Pfeifer, Katharina Raum, Sandra Markovic, Verena Nowak, Stephanie Fey, Julia Obländer, Jovita Pressler, Verena Böhm, Monika Brüggemann, Lydia Wunderle, Andreas Hüttmann, Ralph Wäsch, Joachim Beck, Matthias Stelljes, Andreas Viardot, Fabian Lang, Dieter Hoelzer, Wolf-Karsten Hofmann, Hubert Serve, Christel Weiss, Nicola Goekbuget, Oliver G Ottmann, Daniel Nowak
We investigated the role of copy number alterations to refine risk stratification in adult Philadelphia chromosome positive (Ph)+ ALL treated with tyrosine kinase inhibitors (TKI) and allogeneic stem cell transplantation (aSCT). 97 Ph+ ALL patients (median age 41 years, range 18-64 years) within the prospective multicenter GMALL studies 06/99 (n=8) and 07/2003 (n=89) were analysed. All patients received TKI and aSCT in first complete remission (CR1). Copy number analysis was performed with SNP arrays and validated by multiplex ligation-dependent probe amplification (MLPA)...
January 18, 2018: Blood
Brendan C Dickson, David Swanson, George S Charames, Christopher Dm Fletcher, Jason L Hornick
Epithelioid fibrous histiocytoma is a rare and distinctive cutaneous neoplasm. Most cases harbor ALK rearrangement and show ALK overexpression, which distinguish this neoplasm from conventional cutaneous fibrous histiocytoma and variants. SQSTM1 and VCL have previously been shown to partner with ALK in one case each of epithelioid fibrous histiocytoma. The purpose of this study was to examine a large cohort of epithelioid fibrous histiocytomas by next-generation sequencing to characterize the nature and prevalence of ALK fusion partners...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Y Fu, W Y Guan, H Y Wu, H Y Wu, Z W Fan, Q Ye, F Q Meng
Objective: To investigate the clinical and histological features, diagnosis and differential diagnosis of myofibroma/myofibromatosis. Methods: The clinical data and pathology features of nine cases of myofibroma/myofibromatosis were collected from August 2011 to November 2016 in Affiliated Drum Tower Hospital, Nanjing University Medical School and Children's Hospital of Nanjing Medical University. Immunohistochemistry(IHC), PDGFRB molecular analysis and ETV6-NTRK3 gene fusion were performed and relevant literature reviewed...
January 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Daniel Schäfer, Marianne Olsen, David Lähnemann, Martin Stanulla, Robert Slany, Kjeld Schmiegelow, Arndt Borkhardt, Ute Fischer
No abstract text is available yet for this article.
January 8, 2018: Blood
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