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Sarah Chiang, Paolo Cotzia, David M Hyman, Alexander Drilon, William D Tap, Lei Zhang, Jaclyn F Hechtman, Denise Frosina, Achim A Jungbluth, Rajmohan Murali, Kay J Park, Robert A Soslow, Esther Oliva, A John Iafrate, Ryma Benayed, Marc Ladanyi, Cristina R Antonescu
Tropomyosin receptor kinase (Trk) inhibitors have shown high response rates in patients with tumors harboring NTRK fusions. We identified 4 NTRK fusion-positive uterine sarcomas that should be distinguished from leiomyosarcoma and undifferentiated uterine sarcoma. NTRK rearrangements were detected by fluorescence in situ hybridization (FISH) and/or targeted RNA or DNA sequencing in 4 undifferentiated uterine sarcomas with spindle cell morphology. Because of histologic overlap with leiomyosarcoma, TrkA and pan-Trk immunohistochemistry was performed in 97 uterine leiomyosarcomas...
March 16, 2018: American Journal of Surgical Pathology
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
Abdullah Alholle, Marie Karanian, Anna T Brini, Mark R Morris, Vinodh Kannappan, Stefania Niada, Angela Niblett, Dominique Ranchère-Vince, Daniel Pissaloux, Christophe Delfour, Aurelie Maran Gonzalez, Cristina R Antonescu, Vaiyapuri Sumathi, Franck Tirode, Farida Latif
In recent years, undifferentiated small round cell sarcoma (USRCS) have been divided into a variety of new, rare, sarcoma subtypes including the group of Ewing-like sarcoma that has the morphological appearance of Ewing sarcoma but carries CIC-DUX4, BCOR-CCNB3 and other gene fusions different from the classical EWSR1-ETS. Using high-throughput RNA-seq analyses we identified a novel recurrent gene fusion, CRTC1-SS18, in two cases of USRCS that lacked any known translocation. RNA-seq results were confirmed by RT-PCR, long-range PCR and FISH...
March 13, 2018: Journal of Pathology
Peter J Cook, Rozario Thomas, Ram Kannan, Esther Sanchez de Leon, Alexander Drilon, Marc K Rosenblum, Maurizio Scaltriti, Robert Benezra, Andrea Ventura
This corrects the article DOI: 10.1038/ncomms15987.
March 13, 2018: Nature Communications
Zhenghao Li, Hisanori Takenobu, Amallia Nuggetsiana Setyawati, Nobuhiro Akita, Masayuki Haruta, Shunpei Satoh, Yoshitaka Shinno, Koji Chikaraishi, Kyosuke Mukae, Jesmin Akter, Ryuichi P Sugino, Atsuko Nakazawa, Akira Nakagawara, Hiroyuki Aburatani, Miki Ohira, Takehiko Kamijo
The polycomb repressor complex 2 molecule EZH2 is now known to play a role in essential cellular processes, namely, cell fate decisions, cell cycle regulation, senescence, cell differentiation, and cancer development/progression. EZH2 inhibitors have recently been developed; however, their effectiveness and underlying molecular mechanisms in many malignancies have not yet been elucidated in detail. Although the functional role of EZH2 in tumorigenesis in neuroblastoma (NB) has been investigated, mutations of EZH2 have not been reported...
March 6, 2018: Oncogene
Akihiro Nishiyama, Tadaaki Yamada, Kenji Kita, Rong Wang, Sachiko Arai, Koji Fukuda, Azusa Tanimoto, Shinji Takeuchi, Shoichiro Tange, Atsushi Tajima, Noritaka Furuya, Takayoshi Kinoshita, Seiji Yano
BACKGROUND: Rearrangement of the neurotrophic tropomyosin receptor kinase 1 ( NTRK1 ) gene, which encodes tyrosine receptor kinase A (TRK-A), occurs in various cancers, including colon cancer. Although entrectinib is effective in the treatment of central nervous system (CNS) metastases that express NTRK1 fusion proteins, acquired resistance inevitably results in recurrence. CNS is a sanctuary for targeted drugs; however, the mechanism by which CNS metastases become entrectinib-resistant remains elusive and must be clarified to develop better therapeutics...
February 20, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Margherita Maranesi, Linda Petrucci, Leonardo Leonardi, Federica Piro, Pilar García Rebollar, Pilar Millán, Paolo Cocci, Cecilia Vullo, Francesco Parillo, Arlindo Moura, Gabriela Gonzalez Mariscal, Cristiano Boiti, Massimo Zerani
To investigate the ovulatory mechanisms triggered by raw semen in rabbits, we examined the expression of nerve growth factor (NGF)-a supposed ovulation-inducing factor (OIF)-and cognate receptors in anterior pituitary, ovary, and cervix as well as plasma NGF and LH concentrations. Six does/group were: sham-inseminated with sterile saline (PBS), naturally mated (NM), inseminated with raw semen alone (RS) or after lumbar anesthesia (ARS) or treatment with COX inhibitors (CIRS). Immunohistochemistry revealed positive signals for NGF and receptors in all tissues...
February 9, 2018: Biology of Reproduction
Beata Aleksiūnienė, Egle Preiksaitiene, Aušra Morkūnienė, Laima Ambrozaitytė, Algirdas Utkus
Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23...
February 9, 2018: Cytogenetic and Genome Research
Yasuhiro Indo
NGF is a well-studied neurotrophic factor, and TrkA is a receptor tyrosine kinase for NGF. The NGF-TrkA system supports the survival and maintenance of NGF-dependent neurons during development. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder due to loss-of-function mutations in the NTRK1 gene encoding TrkA. Individuals with CIPA lack NGF-dependent neurons, including NGF-dependent primary afferents and sympathetic postganglionic neurons, in otherwise intact systems...
February 1, 2018: Neuroscience and Biobehavioral Reviews
Kyle C Strickland, Markus Eszlinger, Ralf Paschke, Trevor E Angell, Erik K Alexander, Ellen Marqusee, Matthew A Nehs, Vickie Y Jo, Alarice Lowe, Marina Vivero, Monica Hollowell, Xiaohua Qian, Tad Wieczorek, Christopher A French, Lisa A Teot, Edmund S Cibas, Neal I Lindeman, Jeffrey F Krane, Justine A Barletta
Non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is an indolent thyroid tumor characterized by frequent RAS mutations and an absence of the BRAF V600E mutation commonly seen in classical papillary thyroid carcinoma (cPTC). The ability to differentiate potential NIFTP/follicular variant of papillary thyroid carcinoma (FVPTC) from cPTC at the time of fine-needle aspiration (FNA) can facilitate conservative management of NIFTP. The aim of the current study was to investigate how molecular testing may add to cytologic assessment in the pre-operative differentiation of potential NIFTP/FVPTC and cPTC...
February 2, 2018: Endocrine Pathology
Nancy K Gillis, Daniel M Rotroff, Tania E Mesa, Jiqiang Yao, Zhihua Chen, Michael A Carulli, Sean J Yoder, Christine M Walko, Jamie K Teer, Howard L McLeod
Multi-targeted tyrosine kinase inhibitors (TKIs) have broad efficacy and similar FDA-approved indications, suggesting shared molecular drug targets across cancer types. Irrespective of tumor type, 20-30% of patients treated with multi-targeted TKIs demonstrate intrinsic resistance, with progressive disease as a best response. We conducted a retrospective cohort study to identify tumor (somatic) point mutations, insertion/deletions, and copy number alterations (CNA) associated with intrinsic resistance to multi-targeted TKIs...
December 29, 2017: Oncotarget
Cornelis J Korbee, Matthias T Heemskerk, Dragi Kocev, Elisabeth van Strijen, Omid Rabiee, Kees L M C Franken, Louis Wilson, Nigel D L Savage, Sašo Džeroski, Mariëlle C Haks, Tom H M Ottenhoff
Antibiotic resistance poses rapidly increasing global problems in combatting multidrug-resistant (MDR) infectious diseases like MDR tuberculosis, prompting for novel approaches including host-directed therapies (HDT). Intracellular pathogens like Salmonellae and Mycobacterium tuberculosis (Mtb) exploit host pathways to survive. Only very few HDT compounds targeting host pathways are currently known. In a library of pharmacologically active compounds (LOPAC)-based drug-repurposing screen, we identify multiple compounds, which target receptor tyrosine kinases (RTKs) and inhibit intracellular Mtb and Salmonellae more potently than currently known HDT compounds...
January 24, 2018: Nature Communications
Marina N Nikiforova, Stephanie Mercurio, Abigail I Wald, Michelle Barbi de Moura, Keith Callenberg, Lucas Santana-Santos, William E Gooding, Linwah Yip, Robert L Ferris, Yuri E Nikiforov
BACKGROUND: Molecular tests have clinical utility for thyroid nodules with indeterminate fine-needle aspiration (FNA) cytology, although their performance requires further improvement. This study evaluated the analytical performance of the newly created ThyroSeq v3 test. METHODS: ThyroSeq v3 is a DNA- and RNA-based next-generation sequencing assay that analyzes 112 genes for a variety of genetic alterations, including point mutations, insertions/deletions, gene fusions, copy number alterations, and abnormal gene expression, and it uses a genomic classifier (GC) to separate malignant lesions from benign lesions...
January 18, 2018: Cancer
Felicitas Oberndorfer, Leonhard Müllauer
PURPOSE OF REVIEW: In this article, we summarize the current knowledge on molecular alterations in lung cancer that are targets for therapy, and provide an outlook on the future development of molecular pathology in precision oncology. RECENT FINDINGS: Lung cancer has become a paradigm for the success of molecular targeted therapies in solid tumors. Tyrosine kinase inhibitors are effective treatment options in adenocarcinoma patients with an EGFR, ALK, ROS1 or B-Raf Proto-Oncogene, Serine/Threonine kinase mutation...
March 2018: Current Opinion in Oncology
Lisha Dong, Yanyan Li, Dijun Zhang, Hongyan Zhang, Jiaojiao Han, Zhaoyang Wang, Jun Zhou, Chenyang Lu, Xiurong Su
The effects of Apostichopus japonicus enzymatic hydrolysate on the regulation of dyslipidemia, pathoglycemia, and transcription changes in kidney tissues of db/db mice were evaluated. In this study, the symptoms of diabetes in db/db mice were alleviated after 10 weeks of treatments with low (db/db + LD group) and high dose (db/db + HD group) of Apostichopus japonicus enzymatic hydrolysate, and the high dose treatment showed a better antidiabetic effect. Compared with the db/db group, the fasting blood glucose levels (36...
January 10, 2018: Journal of Agricultural and Food Chemistry
Lucie Cellier, Emilie Perron, Daniel Pissaloux, Marie Karanian, Veronique Haddad, Laurent Alberti, Arnaud de la Fouchardière
We report 5 cases of primary intradermal nodular unpigmented tumors with a melanocytic immunophenotype associated with a novel CRTC1-TRIM11 fusion. Clinically, the cutaneous nodules were slowly growing in 3 women and 2 men (25 to 82 y old, median, 28 y) with no specific topography. Lesion size ranged from 4 to 12 mm (median, 5 mm). The tumors were strictly located in the dermis with a nodular pattern. The cells were arranged in confluent nests and fascicules. Central fibronecrotic areas were present in 2 cases...
December 7, 2017: American Journal of Surgical Pathology
Se Ik Kim, Ji Won Lee, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song, Jeong-Sun Seo
OBJECTIVE: To analyze whole exome sequencing (WES) data on ovarian clear cell carcinoma (OCCC) in Korean patients via the technique of next generation sequencing (NGS). Genomic profiles were compared between endometriosis-associated OCCC (EMS-OCCC) and Non-EMS-OCCC. METHODS: We used serum samples and cancer tissues, stored at the Seoul National University Hospital Human Biobank, that were initially collected from women diagnosed with OCCC between 2012 and 2016. In total, 15 patients were enrolled: 5 with pathologically confirmed EMS-OCCC and 10 with Non-EMS-OCCC...
February 2018: Gynecologic Oncology
Kenji Kita, Sachiko Arai, Akihiro Nishiyama, Hirokazu Taniguchi, Koji Fukuda, Rong Wang, Tadaaki Yamada, Shinji Takeuchi, Shoichiro Tange, Atsushi Tajima, Mitsutoshi Nakada, Kazuo Yasumoto, Yoshiharu Motoo, Takashi Murakami, Seiji Yano
Molecular-targeted drugs are generally effective against tumors containing driver oncogenes, such as EGFR, ALK, and NTRK1. However, patients harboring these oncogenes frequently experience a progression of brain metastases during treatment. Here, we present an in vivo imaging model for brain tumors using human cancer cell lines, including the EGFR-L858R/T790M-positive H1975 lung adenocarcinoma cells, the NUGC4 hepatocyte growth factor (HGF)-dependent gastric cancer cells, and the KM12SM colorectal cancer cells containing the TPM3-NTRK1 gene fusion...
December 2017: Cancer Medicine
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
Ningbo Li, Guangyou Duan, Jiaoli Sun, Shanna Guo, Qingli Wang, Hua Zheng, Cong Wang, Changmao Zhu, Yi Liu, Xianwei Zhang
OBJECTIVES: The NTRK1 gene plays an important role in sensory and sympathetic neuronal survival. Mutations in this gene cause a rare hereditary disease known as congenital insensitivity to pain with anhidrosis. The aim of this study was to explore possible associations between single-nucleotide polymorphisms (SNPs) in NTRK1 and pain perception in a selected population. METHODS: A total of 309 healthy Han Chinese female undergraduates were recruited. Responses to quantitative sensory testing of pressure pain (dull, sharp, and acupuncture) were assessed, and genotyping of 13 tag-SNPs of NTRK1 was performed in the undergraduates recruited...
October 18, 2017: Neuroscience Letters
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