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Kit mutation

Gerardo A Vitiello, Timothy G Bowler, Mengyuan Liu, Benjamin D Medina, Jennifer Q Zhang, Nesteene J Param, Jennifer K Loo, Rachel L Goldfeder, Frederic Chibon, Ferdinand Rossi, Shan Zeng, Ronald P DeMatteo
Gastrointestinal stromal tumor (GIST) is the most common human sarcoma, frequently characterized by an oncogenic mutation in the KIT or platelet-derived growth factor receptor alpha (PDGFRA) genes. We performed RNA sequencing of 75 human GIST tumors from 75 patients, comprising the largest cohort of GISTs sequenced to date, in order to discover differences in the immune infiltrates of KIT and PDGFRA-mutant GIST. Through bioinformatics, immunohistochemistry, and flow cytometry, we found that PDGFRA-mutant GISTs harbored more immune cells with increased cytolytic activity when compared to KIT-mutant GISTs...
February 14, 2019: Journal of Clinical Investigation
Jerzy Lasota, Artur Kowalik, Anna Felisiak-Golabek, Sebastian Zięba, Piotr Waloszczyk, Marek Masiuk, Jaroslaw Wejman, Justyna Szumilo, Markku Miettinen
Primary malignant melanoma of esophagus is very rare, and its clinicopathologic and genetic features have not been extensively investigated. In this study, 20 tumors from 14 male and 6 female patients (40-79 years old) were evaluated. Dysphagia, chest pain, and weight loss were frequent symptoms. Thirteen melanomas, including two with multiple lesions, involved the distal third of esophagus. The median tumor diameter was 6 cm. Epithelioid morphology, moderate atypia, and pigmentation were typical findings...
February 13, 2019: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Sahar Aouf, Ala Laribi, Sallouha Gabbouj, Elham Hassen, Noureddine Bouaouinaa, Abdelfattah Zakhama, Hedi Harizi
PURPOSE: We conduct this study to evaluate the clinical and functional impact of Nitric Oxide Synthase 3 (NOS3) T-786C and G894T genetic variants on nasopharyngeal carcinoma (NPC) risk and progression in a Tunisian population. METHODS: 259 NPC patients and 169 healthy controls were enrolled into our case-control study. Blood samples were genotyped by the RFLP-PCR analysis. The levels of Nitric oxide (NO) were measured by a colorimetric assay kit in the plasma of NPC patients, healthy controls and according to NOS3 genotypes...
February 13, 2019: European Archives of Oto-rhino-laryngology
Ho-Jin Shin, Woo-Sung Min, Yoo Hong Min, June-Won Cheong, Je-Hwan Lee, In-Ho Kim, Dae Sik Hong, Jae-Sook Ahn, Hyeoung-Joon Kim, Won-Sik Lee, Chul Won Jung, Jun-Ho Jang, Young Park, Hee-Je Kim
Core-binding factor acute myeloid leukemia (CBF-AML) data in Asian countries has been rarely reported. We analyzed 392 patients with CBF-AML [281 with t(8;21), 111 with inv.(16)/t(16;16)] among data from 3041 patients with AML from the Korean AML Registry. Interestingly, del(9q) was less frequently detected in Korean than in German patients with t(8;21) (7.5% vs. 17%), and del(7q) was more frequently detected in Korean patients with inv(16). Overall survival (OS) was similar between patients in the first complete remission (CR) who received allogeneic (alloSCT) and autologous stem cell transplantation (ASCT) for CBF-AML...
February 13, 2019: Annals of Hematology
Hersh A Ham-Karim, Henry Okuchukwu Ebili, Kirsty Manger, Wakkas Fadhil, Narmeen S Ahmad, Susan D Richman, Mohammad Ilyas
BACKGROUND: Mutation testing in the context of neoadjuvant therapy must be performed on biopsy samples. Given the issue of tumour heterogeneity, this raises the question of whether the biopsies are representative of the whole tumour. Here we have compared the mutation profiles of colorectal biopsies with their matched resection specimens. METHODS: We performed next-generation sequencing (NGS) analysis on 25 paired formalin-fixed, paraffin-embedded colorectal cancer biopsy and primary resection samples...
February 11, 2019: Molecular Diagnosis & Therapy
A Houette, A Depeyre, S Mansard, C Chevenet, I Barthelemy, N Pham Dang
Mucosal melanoma is a rare malignant disease developed from melanocyte. We report the case of a patient with nasal cavity mucosal melanoma with a primary clinical and histological diagnosis of malignant lentigo with mucosal spreading. The presence of a c-Kit mutation, in a second lecture and the evolving nature of the lesion, reorientated the diagnosis of malignant lentigo to mucosal melanoma with skin extension. Extensive surgical resection and foramen free flap with costal graft reconstruction may have a local control of the disease...
February 7, 2019: Annales de Chirurgie Plastique et Esthétique
Rocco Cappellesso, Marcello Lo Mele, Giada Munari, Erik Rosa-Rizzotto, Ennio Guido, Franca De Lazzari, Pierluigi Pilati, Marco Tonello, Fabio Farinati, Stefano Realdon, Matteo Fassan, Massimo Rugge
Colorectal cancer (CRC) is a heterogeneous group of diseases both from the morphological and molecular point of view. The sessile serrated adenoma/polyp (SSA/P) has been proposed as the precursor lesion of CRCs characterized by CpG island methylator phenotype (CIMP), DNA mismatch repair (MMR) system deficiency, and BRAF gene mutations. However, no study so far investigated the molecular landscape of "sessile serrated" adenoma to carcinoma transition in early CRCs. Six formalin-fixed paraffin-embedded CRCs developed within SSA/P were profiled for the immunohistochemical expression of MMR proteins (MLH1, MSH2, MSH6, PMS2, and Ep-CAM), p16, and β-catenin...
February 3, 2019: Pathology, Research and Practice
Jae Joon Han, Pham Dinh Nguyen, Doo-Yi Oh, Jin Hee Han, Ah-Reum Kim, Min Young Kim, Hye-Rim Park, Lam Huyen Tran, Nguyen Huu Dung, Ja-Won Koo, Jun Ho Lee, Seung Ha Oh, Hoang Anh Vu, Byung Yoon Choi
The mutational spectrum of deafness in Indochina Peninsula, including Vietnam, remains mostly undetermined. This significantly hampers the progress toward establishing an effective genetic screening method and early customized rehabilitation modalities for hearing loss. In this study, we evaluated the genetic profile of severe-to-profound hearing loss in a Vietnamese pediatric population using a hierarchical genetic analysis protocol that screened 11 known deafness-causing variants, followed by massively parallel sequencing targeting 129 deafness-associated genes...
February 7, 2019: Scientific Reports
Rui Lou, Shuchen Dong, Chen Shi, Xiaoyue Xu, Rong Ma, Jianzhong Wu, Jifeng Feng, Haixia Cao
Liver X receptors are recognized as important regulators of cholesterol, fatty acid metabolism, inflammatory responses, and glucose homeostasis. The antineoplastic properties of synthetic liver X receptor (LXR) agonists (T0901317 and GW3965) have been reported in human carcinomas. Epidermal growth factor tyrosine kinase inhibitor (EGFR-TKI) is a first-line treatment for non-small-cell lung cancer patients with EGFR mutations. We used scratch and transwell assays to analyze cell migration and invasion. We evaluated tumor migration and invasion in vitro using a fluorescent orthotopic lung cancer model...
February 4, 2019: Anti-cancer Drugs
Hui-Zi Chen, Russell Bonneville, Lianbo Yu, Michele R Wing, Julie W Reeser, Melanie A Krook, Jharna Miya, Eric Samorodnitsky, Amy Smith, Dorrelyn Martin, Thuy Dao, Qishan Guo, David Liebner, Aharon G Freud, Patricia Allenby, Sameek Roychowdhury
Interdigitating dendritic cell sarcoma (IDCS) is an extremely rare cancer of dendritic cell origin that lacks a standardized treatment approach. Here, we performed genomic characterization of metastatic IDCS through whole exome sequencing (WES) of tumor tissues procured from a patient who underwent research autopsy. WES was also performed on a treatment-naïve tumor biopsy sample obtained from prior surgical resection. Our analyses revealed ultra-hypermutation, defined as >100 mutations per megabase, in this patient's cancer, which was further characterized by the presence of three distinct mutational signatures including UV radiation and APOBEC signatures...
January 8, 2019: Oncotarget
Hiroshi Nokihara, Makoto Nishio, Noboru Yamamoto, Yutaka Fujiwara, Hidehito Horinouchi, Shintaro Kanda, Atsushi Horiike, Fumiyoshi Ohyanagi, Noriko Yanagitani, Linh Nguyen, Yifah Yaron, Anne Borgman, Tomohide Tamura
BACKGROUND: Cabozantinib inhibits tyrosine kinases including MET, AXL, VEGFR2, RET, KIT, and ROS1 and has demonstrated antitumor activity in multiple tumor types. The primary objective of this phase 1 study (NCT01553656) was to determine the maximum tolerated dose (MTD) and recommended phase 2 dose (RP2D) of cabozantinib in Japanese patients. PATIENTS AND METHODS: Patients with advanced solid tumors were enrolled at 2 sites in Japan. After determining the MTD and RP2D, an expansion in non-small-cell lung cancer (NSCLC) consisting of 3 molecularly defined cohorts (EGFR mutation; KRAS mutation; ALK, RET, or ROS1 fusion) was initiated...
December 31, 2018: Clinical Lung Cancer
Da Meng, Richard D Carvajal
Metastatic melanoma is a heterogenous disease that has served as a model for the development of both targeted therapy and immunotherapy. KIT-mutated melanoma represents a rare subset, most commonly arising from acral, mucosal, and chronically sun-damaged skin. Additionally, KIT alterations are enriched in the triple wild-type subtype of cutaneous melanoma. Activating alterations of KIT-a transmembrane receptor tyrosine kinase important for cell development, growth, and differentiation-have been shown to be critical to oncogenesis across many tumor subtypes...
February 1, 2019: American Journal of Clinical Dermatology
Pankaj Gupta, Swarnalata Gowrishankar, Meenakshi Swain
Introduction: Epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) mutational analysis in adenocarcinoma lung are growing in importance as these tests are essential in guiding the use of targeted therapy. However, the prevalence of these mutations in various populations in India has not been studied. Furthermore, the correlation of histologic pattern with the mutation is not clear. Materials and Methods: A total of 64 biopsy-proven lung adenocarcinomas were selected...
January 2019: Indian Journal of Pathology & Microbiology
Fiona H Tan, Tracy L Putoczki, Stanley S Stylli, Rodney B Luwor
Human malignancies are often the result of overexpressed and constitutively active receptor and non-receptor tyrosine kinases, which ultimately lead to the mediation of key tumor-driven pathways. Several tyrosine kinases (ie, EGFR, FGFR, PDGFR, VEGFR), are aberrantly activated in most common tumors, including leukemia, glioblastoma, gastrointestinal stromal tumors, non-small-cell lung cancer, and head and neck cancers. Iclusig™ (ponatinib, previously known as AP24534) is an orally active multi-tyrosine kinase inhibitor and is currently approved by the US Food and Drug Administration for patients with chronic myeloid leukemia and Philadelphia chromosome-positive acute lymphoblastic leukemia, specifically targeting the BCR-ABL gene mutation, T315I...
2019: OncoTargets and Therapy
X Y Dong, Y L Li, L Jiang, C Y Wu, B J Shang, L Zhang, W Cheng, Z M Zhu
Objective: To analyze the percentage of myeloperoxidase (MPO)-positive acute myeloid leukemia (AML) blast cells, and to explore the correlation of MPO expression with the clinical features, gene alterations, therapeutic response and prognosis of AML. Methods: The expressions of MPO in BM blasts cells of 233 newly diagnosed AML were retrospectived analyzed, they were divided into two groups using the percentage of MPO-positive blast [low (≤70%) and high (>70%)], clinical features, gene alterations, chemotherapy efficacy and prognosis were compared between the two groups...
January 14, 2019: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
(no author information available yet)
Plasmids differ significantly in copy number due to their origin of replication, size, and associated insert. Several plasmids contain mutations that allow them to reach very high-copy numbers within the bacterial cell. However, depending on the objectives of the experiment or the nature of the cloned insert, it is not always possible to use high-copy number plasmid DNA.
December 2018: BioTechniques
Nada Assaf, Jean El-Cheikh, Ali Bazarbachi, Ziad Salem, Chantal Farra, Zaher Chakhachiro, Samer Nassif, Ghazi Zaatari, Rami Mahfouz
Recurrent genetic abnormalities confer distinct morphologic features and play a role in determining the clinical behavior, prognosis and adequate treatment of acute leukemia. In the MENA region, only one study targets the frequency of genetic modifications in AML, reporting a higher occurrence of acute promyelocytic leukemia in Lebanon. Determining the frequency of translocations and gene mutations in acute myeloid and lymphoid leukemia cases in an adult patients' population in Lebanon and comparing the resultant genetic profile with the published international molecular profile of adult acute leukemia...
January 30, 2019: Molecular Biology Reports
Luke Fletcher, Uma Borate
PURPOSE OF REVIEW: The purpose of this review is to summarize the pathophysiology of systemic mastocytosis, review the most recent clinical trials and drug development in systemic mastocytosis, with a specific focus on the advanced systemic mastocytosis subtypes. RECENT FINDINGS: Systemic mastocytosis is a clonal neoplasm of mast cells that has had a number of successful therapeutic options being developed in the past few years. The first therapeutic agent to be Food and Drug Administration (FDA) approved in decades was midostaurin in 2017 with a 60% response rate % with improvement in both end-organ damage and symptoms...
March 2019: Current Opinion in Hematology
Jwa Hoon Kim, Min-Hee Ryu, Changhoon Yoo, Heejung Chae, Hana Na, Moyoul Beck, Beom Su Kim, Moon-Won Yoo, Jeong Hwan Yook, Byung Sik Kim, Ki-Hun Kim, Chan Wook Kim, Yoon-Koo Kang
The long-term effects of tyrosine kinase inhibitors (TKIs), including imatinib, and surgical intervention on advanced gastrointestinal stromal tumor (GIST) were evaluated. All 379 patients had metastatic or recurrent GIST and started 400 mg/d imatinib at the Asan Medical Center in periods 1 and 2 [2001-2007 (33.2%) and 2008-2014 (66.8%), respectively]. Men constituted 60.4%; median patient age and tumor size at the initiation of imatinib were 58.6 (14.6-85.5) years and 51 (0-324) mm, respectively, without differences between periods except for older age and less preimatinib surgery in period 2...
January 28, 2019: Cancer Medicine
Easwar Natarajan
Black and brown-colored mucocutaneous lesions present a differential diagnostic challenge, with malignant melanoma being the primary clinical concern. The vast majority of pigmented lesions in the head and neck region are the result of benign, reactive factors such as post-inflammatory melanosis. However, it is not uncommon to discover a range of muco-cutaneous black and brown neoplasms in the oro-facial area. The majority of black/brown pigmented neoplasms are melanocytic in origin; these are neoplasms of neural crest derivation...
January 29, 2019: Head and Neck Pathology
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