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ETV6-NTRK3

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https://www.readbyqxmd.com/read/28097808/identification-of-ntrk-fusions-in-pediatric-mesenchymal-tumors
#1
Dean Pavlick, Alexa B Schrock, Denise Malicki, Philip J Stephens, Dennis J Kuo, Hyunah Ahn, Brian Turpin, Kamran Badizegan, Jeffrey S Ross, Vincent A Miller, Victor Wong, Siraj M Ali
BACKGROUND: NTRK fusions are known oncogenic drivers and have recently been effectively targeted by investigational agents in adults. We sought to assess the frequency of NTRK fusions in a large series of pediatric and adolescent patients with advanced cancers. PROCEDURE: Genomic profiles from 2,031 advanced cancers from patients less than 21 years old who were assayed with comprehensive genomic profiling were reviewed to identify NTRK fusions. RESULTS: Total of nine cases (0...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28072974/-clinicopathologic-features-of-mammary-analogue-secretory-carcinoma-of-salivary-glands
#2
X P Zhang, H Ni, X Wang, H Chen, S S Shi, B Yu, X J Zhou, Q Rao
Objective: To investigate the clinicopathological features of mammary analogue secretory carcinoma (MASC) of salivary glands, and its diagnosis, differential diagnosis, immunohistochemistry and molecular pathology. Methods: Seventeen cases of MASC were enrolled, with 9 cases of salivary acinar cell carcinoma and 18 cases of adenoid cystic carcinoma as control groups from Nanjing General Hospital from 1997 to 2014 were included in this retrospective study, combined with immunohistochemistry and molecular detection of ETV6-NTRK3 gene fusion...
January 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28060365/newly-described-salivary-gland-tumors
#3
Alena Skalova, Michal Michal, Roderick Hw Simpson
This review concentrates on three salivary gland tumors that have been accepted in the recent literature as new neoplastic entities: mammary analog secretory carcinoma (MASC), sclerosing polycystic adenoma (SPA) and cribriform adenocarcinoma of tongue and other minor salivary glands (CAMSGs). MASC is a distinctive low-grade malignant salivary cancer that harbors a characteristic chromosomal translocation, t(12;15) (p13;q25) resulting in an ETV6-NTRK3 fusion. SPA is a rare lesion often mistaken histologically for low-grade salivary carcinoma...
January 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27974047/fgfr1-and-ntrk3-actionable-alterations-in-wild-type-gastrointestinal-stromal-tumors
#4
Eileen Shi, Juliann Chmielecki, Chih-Min Tang, Kai Wang, Michael C Heinrich, Guhyun Kang, Christopher L Corless, David Hong, Katherine E Fero, James D Murphy, Paul T Fanta, Siraj M Ali, Martina De Siena, Adam M Burgoyne, Sujana Movva, Lisa Madlensky, Gregory M Heestand, Jonathan C Trent, Razelle Kurzrock, Deborah Morosini, Jeffrey S Ross, Olivier Harismendy, Jason K Sicklick
BACKGROUND: About 10-15% of adult, and most pediatric, gastrointestinal stromal tumors (GIST) lack mutations in KIT, PDGFRA, SDHx, or RAS pathway components (KRAS, BRAF, NF1). The identification of additional mutated genes in this rare subset of tumors can have important clinical benefit to identify altered biological pathways and select targeted therapies. METHODS: We performed comprehensive genomic profiling (CGP) for coding regions in more than 300 cancer-related genes of 186 GISTs to assess for their somatic alterations...
December 14, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27849443/fusion-oncogenes-are-the-main-genetic-events-found-in-sporadic-papillary-thyroid-carcinomas-from-children
#5
Maria Isabel C Vieira Cordioli, Lais Moraes, André U Bastos, Paloma Besson, Maria Teresa de Seixas Alves, Rosana Delcelo, Osmar Monte, Carlos Longui, Adriano Namo Cury, Janete M Cerutti
BACKGROUND: Previous studies reported significant differences in the clinical presentation and outcomes of papillary thyroid carcinoma (PTC) in pediatric patients compared with adults. Previous studies have suggested that the clinicopathological differences observed between pediatric and adult PTCs may be due the existence of distinct genetic alterations. However, the knowledge of genetic events in pediatric PTCs is based primarily on studies in radiation-exposed PTCs or in the few studies that enrolled predominantly adolescent patients...
December 27, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27763904/primary-cutaneous-mammary-analog-secretory-carcinoma-with-etv6-ntrk3-translocation
#6
Sapna M Amin, Adam Beattie, Xia Ling, Lawrence J Jennings, Joan Guitart
Mammary analog secretory carcinoma (MASC) is a recently described tumor of the salivary glands named for its morphological and molecular similarity to secretory carcinoma of the breast. Many primary carcinomas arising from the adnexal glands also share similar morphology to those arising from the breast. Brandt et al first described primary cutaneous MASC in 2009 and since then only 2 other cases have been reported. Herein, we describe a long-standing mass on the arm of an otherwise healthy 40-year-old female...
November 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27633961/mammary-analog-secretory-carcinoma-of-thyroid-a-case-report
#7
Aaron P Rupp, Thèrése J Bocklage
Mammary analog secretory carcinoma (MASC) is a recently described rare neoplasm that was first reported in the salivary gland with an associated ETV6-NTRK3 fusion. We present a case of MASC involving and presumably arising in the thyroid, which was originally diagnosed as papillary thyroid carcinoma on fine needle aspiration and surgical resection. The later correct diagnosis of MASC was confirmed by immunohistochemistry and molecular studies. The cytopathological features of MASC in the salivary gland are previously described; however, we present the first cytopathological description of MASC arising in the thyroid with the unique feature of prominent nuclear grooves...
January 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/27631515/secretory-carcinoma-of-the-skin-harboring-etv6-gene-fusions-a-cutaneous-analogue-to-secretory-carcinomas-of-the-breast-and-salivary-glands
#8
Justin A Bishop, Janis M Taube, Albert Su, Scott W Binder, Dmitry V Kazakov, Michal Michal, William H Westra
Mammary analogue secretory carcinoma is a low-grade salivary gland carcinoma that exhibits analogous features to secretory carcinoma of the breast including the presence of a t(12;15) translocation resulting in the ETV6-NTRK3 gene fusion. Rare cases of purported secretory carcinoma of the skin adnexa have been reported, but their relationship to true secretory carcinoma of the breast and salivary glands is unclear, as they generally do not harbor ETV6 rearrangements. Cases of cutaneous neoplasms with histologic features identical to secretory carcinoma of the breast and salivary glands were identified from the consultation files of 3 academic medical institutions...
January 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27591391/mammaglobin-and-dog-1-expression-in-polymorphous-low-grade-adenocarcinoma-an-appraisal-of-its-origin-and-morphology
#9
Victor Angelo Martins Montalli, Fabricio Passador-Santos, Elizabeth Ferreira Martinez, Cristiane Furuse, Maria Cássia Aguiar, Fernando Augusto Soares, Andresa Borges Soares, Amy Louise Brown, Ney Soares de Araújo, Vera Cavalcanti de Araújo
BACKGROUND: Polymorphous low-grade adenocarcinoma (PLGA) remains a diagnostic challenge for most pathologists due to its large spectrum of histological patterns. In this study, the expression of two new markers recently described for salivary gland tumors was studied in PLGA. METHODS: The morphology of 33 cases of PLGA was carefully evaluated using hematoxylin-and-eosin-stained sections and confirmed by immunohistochemistry for cytokeratin 7, vimentin, and S-100...
September 3, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27575269/mammary-analogue-secretory-carcinoma
#10
Todd M Stevens, Vishwas Parekh
Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumor that shares the same histologic appearance and ETV6 gene (12p13) rearrangement as secretory carcinoma of the breast. Prior to its recognition, MASC cases were commonly labeled acinic cell carcinoma and adenocarcinoma, not otherwise specified. Despite distinctive histologic features, MASC may be difficult to distinguish from other salivary gland tumors, in particular zymogen-poor acinic cell carcinoma and low-grade salivary duct carcinoma...
September 2016: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/27527989/mammary-analogue-secretory-carcinoma-of-the-salivary-glands-a-diagnostic-dilemma
#11
N Hindocha, M H Wilson, M Pring, C W Hughes, S J Thomas
Mammary analogue secretory carcinoma (MASC) is a recently identified salivary gland neoplasm that can mimic other salivary gland tumours such as acinic cell carcinoma and cystadenocarcinoma. It is distinguished from these by differences in immunohistochemical profile and the identification of an ETV6-NTRK3 translocation (12;15)(p13;q25), which is also found in secretory carcinomas of the breast. Previous publications have suggested that MASC tumours have similar biological behaviour to acinic cell carcinoma...
August 12, 2016: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/27506949/etv6-rearrangement-in-a-case-of-mammary-analogue-secretory-carcinoma-of-the-skin
#12
Michael D Chang, Allison K Arthur, Joaquín J García, William R Sukov, Wonwoo Shon
Mammary analog secretory carcinoma of salivary glands is a relatively recently recognized entity that harbors the ETV6-NTRK3 fusion transcript. To date, only rare cases of mammary analog secretory carcinoma of the skin have been reported. A 57-year-old man presented with a 6.0 cm cystic mass in the axilla, involving the dermis and superficial subcutis. Microscopically, the tumor exhibited nodular aggregation of tubular and microcystic structures embedded in the dense fibrotic and hyalinized stroma. Characteristic 'colloid-like' eosinophilic secretory material was present within intraluminal spaces...
November 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27477320/ntrk3-kinase-fusions-in-spitz-tumours
#13
Iwei Yeh, Meng Kian Tee, Thomas Botton, A Hunter Shain, Alyssa J Sparatta, Alexander Gagnon, Swapna S Vemula, Maria C Garrido, Kenji Nakamaru, Takeshi Isoyama, Timothy H McCalmont, Philip E LeBoit, Boris C Bastian
Oncogenic fusions in TRK family receptor tyrosine kinases have been identified in several cancers and can serve as therapeutic targets. We identified ETV6-NTRK3, MYO5A-NTRK3 and MYH9-NTRK3 fusions in Spitz tumours, and demonstrated that NTRK3 fusions constitutively activate the mitogen-activated protein kinase, phosphoinositide 3-kinase and phospholipase Cγ1 pathways in melanocytes. This signalling was inhibited by DS-6051a, a small-molecule inhibitor of NTRK1/2/3 and ROS1. NTRK3 fusions expand the range of oncogenic kinase fusions in melanocytic neoplasms and offer targets for a small subset of melanomas for which no targeted options currently exist...
November 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27427238/-wild-type-gist-clinicopathological-features-and-clinical-practice
#14
REVIEW
Ryuichi Wada, Hiroki Arai, Shoko Kure, Wei-Xia Peng, Zenya Naito
Gastrointestinal stromal tumor (GIST) is a mesenchymal tumor of the gastrointestinal tract. Mutation of KIT and PDGFRA genes is implicated in the tumorigenesis. Approximately 10% of GISTs do not harbor mutation of these genes, and they are designated as "wild type" GIST. They are classified into succinate dehydrogenase (SDH)-deficient and non-SDH-deficient groups. SDH-deficient group includes Carney triad and Carney Stratakis syndrome. The patients are young women. Tumors occur in the antrum of the stomach, and tumor cells are epithelioid...
August 2016: Pathology International
https://www.readbyqxmd.com/read/27400918/mammary-analog-secretory-carcinoma-masc-involving-the-thyroid-gland-a-report-of-the-first-3-cases
#15
Jennifer Dettloff, Raja R Seethala, Todd M Stevens, Margaret Brandwein-Gensler, Barbara A Centeno, Kristen Otto, Julia A Bridge, Justin A Bishop, Marino E Leon
Salivary gland-type tumors have been rarely described in the thyroid gland. Mammary Analog Secretory Carcinoma (MASC) is a recently defined type of salivary gland carcinoma characterized by a t(12;15)(p13;q25) resulting in an ETV6-NTRK3 fusion gene. We report 3 cases of MASC involving the thyroid gland without clinical evidence of a salivary gland or breast primary; the clinico-pathologic characteristics are reviewed. Assessment for rearrangement of the ETV6 (12p13) locus was conducted by fluorescence in situ hybridization (FISH) on representative FFPE sections using an ETV6 break apart probe (Abbott Molecular, Des Plaines, IL, USA)...
July 11, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27282352/mammary-analog-secretory-carcinoma-of-the-thyroid-gland-a-primary-thyroid-adenocarcinoma-harboring-etv6-ntrk3-fusion
#16
Snjezana Dogan, Lu Wang, Ryan N Ptashkin, Robert R Dawson, Jatin P Shah, Eric J Sherman, R Michael Tuttle, James A Fagin, David S Klimstra, Nora Katabi, Ronald A Ghossein
ETV6-NTRK3 fusion was identified in several cancers including the recently described mammary analog secretory carcinoma (MASC) of the salivary glands and a minority of papillary thyroid carcinomas. We describe three cases of primary MASC of the thyroid gland and provide a detailed clinical and pathological characterization of the tumor morphology, immunoprofile, and genetic background. Immunohistochemistry for PAX8, TTF-1, thyroglobulin, mammaglobin, GCDFP-15, S-100 protein, and p63 was used to define the tumor immunophenotype...
September 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27259007/etv6-ntrk3-is-expressed-in-a-subset-of-alk-negative-inflammatory-myofibroblastic-tumors
#17
Ali H Alassiri, Rola H Ali, Yaoqing Shen, Amy Lum, Caron Strahlendorf, Rebecca Deyell, Rod Rassekh, Poul H Sorensen, Janessa Laskin, Marco Marra, Stephen Yip, Cheng-Han Lee, Tony L Ng
Inflammatory myofibroblastic tumor (IMT) is a genetically heterogenous tumor of the viscera and soft tissues, with multiple molecular features having been demonstrated in this tumor type. About 50% of cases harbor an anaplastic lymphoma kinase (ALK) gene rearrangement, and recent studies have described novel fusions involving the ROS1 and PDGFRβ genes in a subset of ALK-negative cases. However, the molecular features of the remaining subset of cases are not yet defined. We report a case of a large, highly aggressive IMT of the lung in a 17-year-old girl...
August 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27192652/preservation-of-facial-nerve-with-adjuvant-radiotherapy-for-recurrent-mammary-analogue-secretory-carcinoma-of-parotid-gland
#18
Shufang Jin, Hailong Ma, Yue He
Mammary analogue secretory carcinoma of salivary glands harbors the recurrent ETV6-NTRK3 gene fusion because of the translocation t (12; 15) (p13; q25) and resembles breast secretory carcinoma. This tumor composed of papillary, cystic, solid, and cribriform patterns. Immunohistochemically, the tumors are positive for mammaglobin, CK7, CK8, STAT5a, vimentin, and S100. In this report, the authors presented a patient of recurrent parotid gland mammary analogue secretory carcinoma in a 22-year-old woman. The patient received extended parotidectomy with partial adhesive masseter surgery...
June 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27166044/a-rare-case-of-multicentric-secretory-carcinoma-of-breast-in-an-adult-female-with-review-of-literature
#19
Maithili Mandar Kulkarni, Siddhi Gaurish Sinai Khandeparkar, Avinash R Joshi, Ashish N Dhande
Secretory breast carcinomas (SBCs) are considered one of the rarest types of BCs accounting for <0.15% of all breast cancers. The lesions are typically solitary, but rare multicentric cases have been reported. SBC have characteristic histopathological, immunohistochemical, and electron microscopic findings. Children and adolescents with SBC have a favorable prognosis, but disease seems slightly more aggressive in adults. The characteristic ETV6-NTRK3 molecular alteration, leading to a stable chimeric tyrosine kinase fusion product, may be the target of promising new treatment for this unique BC...
April 2016: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/27161658/genome-wide-single-nucleotide-polymorphism-array-analysis-improves-prognostication-of-acute-lymphoblastic-leukemia-lymphoma
#20
Yunhong Wang, Sue Miller, Diane Roulston, Dale Bixby, Lina Shao
Chromosomal abnormalities are important for the risk stratification of acute lymphoblastic leukemia/lymphoma (ALL). However, approximately 30% of pediatric and 50% of adult patients lack abnormalities with clinical relevance by traditional cytogenetic analysis. We integrated cytogenetic, fluorescence in situ hybridization, and whole-genome single-nucleotide polymorphism array results from 60 consecutive clinical ALL cases. By cytogenetic and/or fluorescence in situ hybridization analyses, recurring abnormalities with clinical relevance were observed in 33 B-cell ALL (B-ALL), including t(9;22), hyperdiploidy, KMT2A translocation, ETV6-RUNX1, intrachromosomal amplification of chromosome 21, near haploidy or low hypodiploidy, and t(8;22)...
July 2016: Journal of Molecular Diagnostics: JMD
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