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ETV6-NTRK3

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https://www.readbyqxmd.com/read/29142456/secretory-carcinoma-impact-of-translocation-and-gene-fusions-on-salivary-gland-tumor
#1
Ryoko Inaki, Masanobu Abe, Liang Zong, Takahiro Abe, Aya Shinozaki-Ushiku, Tetsuo Ushiku, Kazuto Hoshi
Secretory carcinoma (SC), previously described as mammary analogue secretory carcinoma (MASC), is a recently described salivary gland tumor which morphologically resembles mammary secretory carcinoma. The first description of SC/MASC, reported by Skálová et al. in 2010, was as a rare salivary carcinoma imitating secretory carcinoma of the breast. SC/MASC is a unique salivary gland tumor with morphological overlap with acinic cell carcinoma (AciCC), mucoepidermoid carcinoma (MEC), and adenocarcinoma not otherwise specified (ADC-NOS)...
October 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/29139086/diagnostic-approaches-for-salivary-gland-tumors-with-secretory-and-microcystic-features
#2
Ha Young Woo, Eun Chang Choi, Sun Och Yoon
Secretory carcinoma (SC) of the salivary gland is a new entity that shares the unique morphologic features and cytogenetic characteristics of the ETV6-NTRK3 fusion gene with its breast counterpart. Before identification of SC of the salivary gland, it was most frequently diagnosed as acinic cell carcinoma (AciCC). We retrospectively reviewed our own database of salivary gland tumors harboring microcystic and papillary architecture and/or secretory features that were originally diagnosed as AciCC. We selected nine cases of AciCC showing diffuse S-100 expression on immunohistochemistry (IHC)...
November 14, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/29119387/a-new-etv6-ntrk3-cell-line-model-reveals-malat1-as-a-novel-therapeutic-target-a-short-report
#3
Suning Chen, Stefan Nagel, Bjoern Schneider, Haiping Dai, Robert Geffers, Maren Kaufmann, Corinna Meyer, Claudia Pommerenke, Kenneth S Thress, Jiao Li, Hilmar Quentmeier, Hans G Drexler, Roderick A F MacLeod
BACKGROUND: Previously, the chromosomal translocation t(12;15)(p13;q25) has been found to recurrently occur in both solid tumors and leukemias. This translocation leads to ETV6-NTRK3 (EN) gene fusions resulting in ectopic expression of the NTRK3 neurotropic tyrosine receptor kinase moiety as well as oligomerization through the donated ETV6-sterile alpha motif domain. As yet, no in vitro cell line model carrying this anomaly is available. Here we genetically characterized the acute promyelocytic leukemia (APL) cell line AP-1060 and, by doing so, revealed the presence of a t(12;15)(p13;q25)...
November 8, 2017: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/29118225/activity-of-entrectinib-in-a-patient-with-the-first-reported-ntrk-fusion-in-neuroendocrine-cancer
#4
Darren Sigal, Marie Tartar, Marin Xavier, Fei Bao, Patrick Foley, David Luo, Jason Christiansen, Zachary Hornby, Edna Chow Maneval, Pratik Multani
Despite advances in genomic analysis, the molecular origin of neuroendocrine tumors (NETs) is complex and poorly explained by described oncogenes. The neurotrophic TRK family, including NTRK1, 2, and 3, encode the proteins TRKA, TRKB, TRKC, respectively, involved in normal nerve development. Because NETs develop from the diffuse neuroendocrine system, we sought to determine whether NTRK alterations occur in NETs and whether TRK-targeted therapy would be effective. A patient with metastatic well-differentiated NET, likely of the small intestine, was enrolled on the STARTRK2 trial (ClinicalTrials...
November 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29099503/recurrent-eml4-ntrk3-fusions-in-infantile-fibrosarcoma-and-congenital-mesoblastic-nephroma-suggest-a-revised-testing-strategy
#5
Alanna J Church, Monica L Calicchio, Valentina Nardi, Alena Skalova, Andre Pinto, Deborah A Dillon, Carmen R Gomez-Fernandez, Namitha Manoj, Josh D Haimes, Joshua A Stahl, Filemon S Dela Cruz, Sarah Tannenbaum-Dvir, Julia L Glade-Bender, Andrew L Kung, Steven G DuBois, Harry P Kozakewich, Katherine A Janeway, Antonio R Perez-Atayde, Marian H Harris
Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing...
November 3, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29090505/a-case-of-congenital-infantile-fibrosarcoma-of-the-bowel-presenting-as-a-neonatal-intussusception
#6
Juma Obayashi, Hirotaka Koizumi, Masahiro Hoshikawa, Munechika Wakisaka, Fujikawa Atsuko, Hiroaki Kitagawa, Masayuki Takagi
Neonatal intussusception of the intestinal tract is rare. However, most neonatal intussusceptions have an organic lead point. For the lead point to be a neoplasm is extremely rare. We report a case that presented with neonatal intussusception with a congenital infantile fibrosarcoma as the lead point. The detection of ETV6-NTRK3 gene fusion was useful, although the definitive diagnosis was achieved by a comprehensive evaluation including this gene analysis, standard histology and immunohistochemistry. Neonatal intussusception should be suspected to be caused by a neoplasm...
November 1, 2017: Pathology International
https://www.readbyqxmd.com/read/29076877/the-role-of-molecular-testing-in-the-differential-diagnosis-of-salivary-gland-carcinomas
#7
Alena Skálová, Göran Stenman, Roderick H W Simpson, Henrik Hellquist, David Slouka, Tomas Svoboda, Justin A Bishop, Jennifer L Hunt, Ken-Ichi Nibu, Alessandra Rinaldo, Vincent Vander Poorten, Kenneth O Devaney, Petr Steiner, Alfio Ferlito
Salivary gland neoplasms are a morphologically heterogenous group of lesions that are often diagnostically challenging. In recent years, considerable progress in salivary gland taxonomy has been reached by the discovery of tumor type-specific fusion oncogenes generated by chromosome translocations. This review describes the clinicopathologic features of a selected group of salivary gland carcinomas with a focus on their distinctive genomic characteristics. Mammary analog secretory carcinoma is a recently described entity characterized by a t(12;15)(p13;q25) translocation resulting in an ETV6-NTRK3 fusion...
October 26, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29076873/molecular-profiling-of-mammary-analog-secretory-carcinoma-revealed-a-subset-of-tumors-harboring-a-novel-etv6-ret-translocation-report-of-10-cases
#8
Alena Skalova, Tomas Vanecek, Petr Martinek, Ilan Weinreb, Todd M Stevens, Roderick H W Simpson, Martin Hyrcza, Niels J Rupp, Martina Baneckova, Michael Michal, David Slouka, Tomas Svoboda, Alena Metelkova, Arghavan Etebarian, Jaroslav Pavelka, Steven J Potts, Jason Christiansen, Petr Steiner, Michal Michal
ETV6 gene abnormalities are well described in tumor pathology. Many fusion partners of ETV6 have been reported in a variety of epithelial, mesenchymal, and hematological malignancies. In salivary gland tumor pathology, however, the ETV6-NTRK3 translocation is specific for (mammary analog) secretory carcinoma, and has not been documented in any other salivary tumor type. The present study comprised a clinical, histologic, and molecular analysis of 10 cases of secretory carcinoma, with typical morphology and immunoprofile harboring a novel ETV6-RET translocation...
October 26, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29046324/etv6-ntrk3-and-strn-alk-kinases-fusions-are-recurrent-events-in-papillary-thyroid-cancer-of-adult-population
#9
André U Bastos, Ana Carolina de Jesus, Janete Maria Cerutti
OBJECTIVE: PTC-specific analysis identified novel fusions involving RET, BRAF, NTRK1, NTRK3, AGK and ALK genes in adults and pediatric PTC. Although many novel fusions are PTC-specific event and, therefore, are ideal for diagnosis purposes, validation across additional and larger cohorts is essential for introducing these potential diagnostic or prognostic biomarkers into the clinical practice. As most of the BRAF, NTRK3 and ALK fusions were initially found in pediatric PTC or in more aggressive thyroid carcinomas, and there is a great disparity across population, in this study, we screened a large set of adult sporadic PTC cases for the most prevalent kinases fusion lately described in the TCGA...
October 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29017678/mammary-analogue-secretory-carcinoma-of-parotid-gland-in-a-teenage-boy
#10
Humera Mahmood, Hadia Fatima, Mohammad Faheem
Mammary analogue secretory carcinoma (MASC) is a rare salivary gland malignancy that exhibits resemblance with secretory carcinoma of the breast (SC) due to the presence of ETV6-NTRK3 gene fusion, formerly classified as acinic cell carcinoma. It is a slowly growing painless tumor that exhibits wide range of clinical behavior. This tumor typically affects middle aged people. Less than 100 such cases have been reported in the literature so far with only 8 case reports of patients less than 19 years of age. Very little is known about the clinical management of such cases...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28980201/sinonasal-secretory-carcinoma-of-salivary-gland-with-high-grade-transformation-a-case-report-of-this-under-recognized-diagnostic-entity-with-prognostic-and-therapeutic-implications
#11
Bin Xu, Ruth Aryeequaye, Lu Wang, Nora Katabi
Secretory carcinoma (SC) is a recently described salivary gland carcinoma with characteristic ETV6-NTRK3 fusion. In this case report, we described a SC of the maxillary sinus that underwent high grade transformation in a 61-year-old patient. The diagnosis was confirmed by the presence of ETV6 translocation. Within the sinonasal tract, SC is an important differential diagnosis especially of sinonasal adenocarcinoma, non-intestinal type (non-ITAC), as these two entities bears histologic and immunophenotypic similarity...
October 4, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28930752/salivary-gland-neoplasms-does-morphological-diversity-reflect-tumor-heterogeneity
#12
Miguel Rito, Isabel Fonseca
Salivary gland tumor classification encompasses a vast list of benign and malignant neoplasms. Their morphological diversity is recognized not only between different entities but also within individual tumors. Tumor categories as described by the World Health Organization reflect, in part, a true genetic heterogeneity (e.g., translocations involving CRTC1 and CRTC3-MAML2 genes in mucoepidermoid carcinoma and MYB-NFIB fusion in adenoid cystic carcinoma). Carcinoma ex pleomorphic adenoma shows diversity in its histological appearance, but recurrent rearrangements on PLAG1 and HMGA2 are common to its benign precursor...
September 21, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28877062/recurrent-braf-gene-fusions-in-a-subset-of-pediatric-spindle-cell-sarcomas-expanding-the-genetic-spectrum-of-tumors-with-overlapping-features-with-infantile-fibrosarcoma
#13
Yu-Chien Kao, Christopher D M Fletcher, Rita Alaggio, Leonard Wexler, Lei Zhang, Yun-Shao Sung, Dicle Orhan, Wei-Chin Chang, David Swanson, Brendan C Dickson, Cristina R Antonescu
Infantile fibrosarcomas (IFS) represent a distinct group of soft tissue tumors occurring in patients under 2 years of age and most commonly involving the extremities. Most IFS show recurrent ETV6-NTRK3 gene fusions, sensitivity to chemotherapy, and an overall favorable clinical outcome. However, outside these well-defined pathologic features, no studies have investigated IFS lacking ETV6-NTRK3 fusions, or tumors with the morphology resembling IFS in older children. This study was triggered by the identification of a novel SEPT7-BRAF fusion in an unclassified retroperitoneal spindle cell sarcoma in a 16-year-old female by targeted RNA sequencing...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28821194/primary-benign-and-malignant-thyroid-neoplasms-with-signet-ring-cells-cytologic-histologic-and-molecular-features
#14
Nada A Farhat, Ayse M Onenerk, Jeffrey F Krane, Dora Dias-Santagata, Peter M Sadow, William C Faquin
Objectives: Signet ring cells (SRCs) can be seen in a variety of thyroid tumors and can pose a diagnostic pitfall on cytology. This study describes the cytologic, histomorphologic, and molecular aspects of a cohort of primary thyroid tumors with SRCs. Methods: A search was performed of the Massachusetts General Hospital and Brigham and Women's Hospital (Boston, MA) pathology archives for the keywords thyroid, signet, and signet ring features between 2000 and 2014...
September 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28781197/clinicopathologic-and-molecular-characterization-of-mammary-analogue-secretory-carcinoma-of-salivary-gland-origin
#15
F Baghai, F Yazdani, A Etebarian, A Garajei, A Skalova
BACKGROUND: Mammary analogue secretory carcinoma (MASC) is a newly recognized salivary gland tumor that harbors a characteristic balanced chromosomal translocation t (12; 15) (p13; q25) resulting in an ETV6-NTRK3 fusion gene. METHODS: Retrospective study of 111 salivary gland carcinomas revealed 37 cases with secretory features and growth patterns resembling secretory carcinoma of breast. These 37 cases were originally diagnosed as acinic cell carcinoma, adenocarcinoma not otherwise specified and cystadenocarcinoma...
July 23, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28756976/oncocytic-papillary-cystadenoma-with-prominent-mucinous-differentiation-of-parotid-gland-a-case-report
#16
Borislav A Alexiev, Lawrence J Jennings, Sandeep Samant, Sambasiva Rao
We describe the case of an oncocytic papillary cystadenoma with mucinous differentiation of the parotid gland in a 64-year-old male. Histologically, the tumor exhibited distinctive areas of intracystic papillary growth pattern with microcystic and macrocystic spaces containing mucinous secretions and small crystals. The cyst wall and papillary fronds were lined by oncocytic admixed with numerous mucocytes. Lymphoid tissue and invasive features were not identified. The tumor showed strong expression of CK7 and mammaglobin in oncocytes, and BRST-2 and MUC4 in mucocytes...
October 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28738326/difficulty-in-the-cytodiagnosis-of-mammary-analogue-secretory-carcinoma-survey-of-109-cytologists-with-a-case-originating-from-a-minor-salivary-gland
#17
Keita Kai, Akimichi Minesaki, Kumiko Suzuki, Mikio Monji, Mitsuo Nakamura, Hisayuki Tsugitomi, Yuichiro Kuratomi, Shinichi Aishima
BACKGROUND: Mammary analogue secretory carcinoma (MASC) of the salivary gland shows morphologic similarities and shares an immunophenotype and characteristic ETV6-NTRK3 translocation with secretory carcinoma of the breast. We present a buccal case of MASC along with a survey-based debate about its cytologic diagnosis by fine-needle aspiration (FNA). CASE: FNA of the buccal nodule of a 58-year-old Japanese man was initially performed by 3 cytologists who gave different assessments of the Papanicolaou classification (i...
July 25, 2017: Acta Cytologica
https://www.readbyqxmd.com/read/28719468/etv6-gene-rearrangements-characterize-a-morphologically-distinct-subset-of-sinonasal-low-grade-non-intestinal-type-adenocarcinoma-a-novel-translocation-associated-carcinoma-restricted-to-the-sinonasal-tract
#18
Simon Andreasen, Alena Skálová, Abbas Agaimy, Justin A Bishop, Jan Laco, Ilmo Leivo, Alessandro Franchi, Stine R Larsen, Daiva Erentaite, Benedicte P Ulhøi, Christian von Buchwald, Linea C Melchior, Michal Michal, Katalin Kiss
Low-grade sinonasal adenocarcinomas (low-grade SNACs) of the sinonasal tract comprise a poorly characterized and histologically heterogeneous group of tumors. We describe three cases of a histologically distinct variant of low-grade SNAC characterized by ETV6 gene rearrangements. The patients included 2 women (aged 32 and 88 y) and a man (aged 75 y); all were initially treated with surgery alone. Follow-up ranged from 9 to 170 months with one patient having 2 local recurrences and none experiencing distant or regional metastases...
November 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28719467/pan-trk-immunohistochemistry-is-an-efficient-and-reliable-screen-for-the-detection-of-ntrk-fusions
#19
Jaclyn F Hechtman, Ryma Benayed, David M Hyman, Alexander Drilon, Ahmet Zehir, Denise Frosina, Maria E Arcila, Snjezana Dogan, David S Klimstra, Marc Ladanyi, Achim A Jungbluth
Activating neurotrophic tyrosine receptor kinase (NTRK) fusions, typically detected using nucleic-acid based assays, are highly targetable and define certain tumors. Here, we explore the utility of pan-TRK immunohistochemistry (IHC) to detect NTRK fusions. NTRK rearrangements were detected prospectively using MSK-IMPACT, a DNA-based next-generation sequencing assay. Transcription of novel NTRK rearrangements into potentially functional fusion transcripts was assessed via Archer Dx fusion assay. Pan-Trk IHC testing with mAb EPR17341 was performed on all NTRK rearranged cases and 20 cases negative for NTRK fusions on Archer...
November 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28690909/congenital-infantile-fibrosarcoma-causing-intestinal-perforation-in-a-newborn
#20
Margarita Kaiser, Bernadette Liegl-Atzwanger, Eszter Nagy, Daniela Sperl, Georg Singer, Holger Till
Congenital infantile fibrosarcoma (CIF) is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later...
2017: Case Reports in Pediatrics
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