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Kit mutation

Riccardo Ricci, Maria Cristina Giustiniani, Marco Gessi, Paola Lanza, Federica Castri, Alberto Biondi, Roberto Persiani, Fabio M Vecchio, Mauro Risio
PDGFRA mutations in the gastrointestinal (GI) tract can cause GI stromal tumour (GIST) and inflammatory fibroid polyp (IFP). Hitherto no cell type has been identified as a physiological counterpart of the latter, while interstitial Cajal cells (ICC) are considered the precursor of the former. However, ICC hyperplasia (ICCH), which strongly supports the ICC role in GIST pathogenesis, has been identified in germline KIT-mutant settings but not in PDGFRA-mutant ones, challenging the precursor role of ICC for PDGFRA-driven GISTs...
August 17, 2018: Journal of Cellular and Molecular Medicine
Celalettin Ustun, Elizabeth Morgan, Erica E M Moodie, Sheeja Pullarkat, Cecilia Yeung, Sigurd Broesby-Olsen, Robert Ohgami, Young Kim, Wolfgang Sperr, Hanne Vestergaard, Dong Chen, Philip M Kluin, Michelle Dolan, Krzysztof Mrózek, David Czuchlewski, Hans-Peter Horny, Tracy I George, Thomas Kielsgaard Kristensen, Nam K Ku, Cecilia Arana Yi, Michael Boe Møller, Guido Marcucci, Linda Baughn, Ana-Iris Schiefer, J R Hilberink, Vinod Pullarkat, Ryan Shanley, Jessica Kohlschmidt, Janie Coulombe, Amandeep Salhotra, Lori Soma, Christina Cho, Michael A Linden, Cem Akin, Jason Gotlib, Gregor Hoermann, Jason Hornick, Ryo Nakamura, Joachim Deeg, Clara D Bloomfield, Daniel Weisdorf, Mark R Litzow, Peter Valent, Gerwin Huls, Miguel-Angel Perales, Gautam Borthakur
BACKGROUND: Although the prognosis of core-binding factor (CBF) acute myeloid leukemia (AML) is better than other subtypes of AML, 30% of patients still relapse and may require allogeneic hematopoietic cell transplantation (alloHCT). However, there is no validated widely accepted scoring system to predict patient subsets with higher risk of relapse. METHODS: Eleven centers in the US and Europe evaluated 247 patients with t(8;21)(q22;q22). RESULTS: Complete remission (CR) rate was high (92...
August 16, 2018: Cancer Medicine
Yvette L Kasamon, Chia-Wen Ko, Sriram Subramaniam, Lian Ma, Yuching Yang, Lei Nie, Stacy Shord, Donna Przepiorka, Ann T Farrell, Amy E McKee, Richard Pazdur
In April 2017, the U.S. Food and Drug Administration granted regular approval to midostaurin for the treatment of adult patients with aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematological neoplasm (SM-AHN), or mast cell leukemia (MCL). Approval was based on results from CPKC412D2201, a single-arm trial of midostaurin (100 mg orally twice daily) in previously treated or untreated patients. For the patients with ASM and SM-AHN, efficacy was established on the basis of confirmed complete remission (CR) plus incomplete remission (ICR) by modified Valent criteria with six cycles of midostaurin...
August 16, 2018: Oncologist
Passant Badr, Ghada M Elsayed, Dalia Negm Eldin, Bahia Y Riad, Nayera Hamdy
We have investigated the frequency and the effect of KIT mutations on the outcome of patients with CBF-AML. 69 patients (34 pediatrics and 35 adults) with CBF-AML were enrolled in the study. The frequency of KIT mutations was higher in adults compared to pediatrics (22.9% and 14.7%, p  = 0.38) respectively. Leukocytosis ≥ 20 × 109 /L was significantly associated with pediatrics compared to adults. t(8;21)(q22;22) was significantly associated with thrombocytopenia in adults. We conclude that no significant difference is found between KIT mutated and unmutated CBF-AML in adults and pediatrics...
2018: Leukemia Research Reports
Yang Yang, Shanqin Li, Gary Wong, Sufang Ma, Zhixiang Xu, Xiaonan Zhao, Hong Li, Wen Xu, Haixia Zheng, Jingyan Lin, Qi Zhao, Wenjun Liu, Yingxia Liu, George F Gao, Yuhai Bi
BACKGROUND: During the fifth wave of human H7N9 infections, a novel highly pathogenic (HP) H7N9 variant emerged with an insertion of multiple basic amino acids in the HA cleavage site. Moreover, a neuraminidase inhibitor (NAI) resistance (R292K in NA) mutation was found in H7N9 isolates from humans, poultry and the environment. In this study, we set out to develop and validate a multiplex quantitative reverse transcript polymerase chain reaction (qRT-PCR) to simultaneously detect the presence of H7N9 and further identify the HP and NAI-resistance mutations...
August 15, 2018: BMC Infectious Diseases
Yuning Jiang, Wai Kit Chu
Genome editing is an important tool for modifying genomic DNA through introducing DNA insertion or deletion at specific locations of a genome. Recently CRISPR/Cas9 has been widely employed to improve the efficiency of genome editing. The Cas9 nuclease creates site-specific double strand breaks (DSBs) at targeted loci in the genome. Subsequently, the DSBs are repaired by two pathways: Homologous Recombination (HR) and Non-Homologous End-Joining (NHEJ). HR has been considered as "error-free" because it repairs DSBs by copying DNA sequences from a homologous DNA template, while NHEJ is "error-prone" as there are base deletions or insertions at the breakage site...
2018: Frontiers in Cell and Developmental Biology
Johanna Kondelin, Kari Salokas, Lilli Saarinen, Kristian Ovaska, Heli Rauanheimo, Roosa-Maria Plaketti, Jiri Hamberg, Xiaonan Liu, Leena Yadav, Alexandra E Gylfe, Tatiana Cajuso, Ulrika A Hänninen, Kimmo Palin, Heikki Ristolainen, Riku Katainen, Eevi Kaasinen, Tomas Tanskanen, Mervi Aavikko, Minna Taipale, Jussi Taipale, Laura Renkonen-Sinisalo, Anna Lepistö, Selja Koskensalo, Jan Böhm, Jukka-Pekka Mecklin, Halit Ongen, Emmanouil T Dermitzakis, Outi Kilpivaara, Pia Vahteristo, Mikko Turunen, Sampsa Hautaniemi, Sari Tuupanen, Auli Karhu, Niko Välimäki, Markku Varjosalo, Esa Pitkänen, Lauri A Aaltonen
Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CRCs and respective normals were utilized...
August 14, 2018: EMBO Molecular Medicine
R R Jiang, Y J Wang, X D Teng, L Xiao, H Bu, F Ye
Objective: To compare the performance of Miseq and Ion Torrent PGM platforms and library construction method for next-generation sequencing (NGS) technology for formalin-fixed and paraffin-embedded (FFPE) samples. Methods: A total of 204 FFPE cancer samples including 100 non-small cell lung cancers at the First Affiliated Hospital of Zhejiang University, and 104 colorectal cancers at West China Hospital of Sichuan University were retrospectively selected from January 2013 to December 2016. By using the same samples, DNA was extracted, and the same amount of DNA was used for library construction with the same kit, and sequenced on Miseq and Ion Torrent PGM respectively, after passing the quality control...
August 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Chenguang Li, Rui Jia, Hailin Liu, Bin Zhang, Changli Wang
BACKGROUND: Lung adenocarcinoma with EGFR activating mutations will inevitably acquire resistance to first generation TKIs. Acquired EGFR T790M mutation causes about 50% of these resistance cases. Droplet digital PCR (ddPCR) and cobas enables quantification of T790M mutation. Whether these methods can predict clinical response of osimertinib treatment is unknown. METHODS: Tumor and blood samples from 69 stage IIIB-IV NSCLC patients acquired resistance to EGFR-TKI were collected...
August 13, 2018: Diagnostic Pathology
Akihiro Miura, Eigo Kojima, Kouichi Tashiro, Takehiro Tajima, Makiko Matsumura, Nobuo Yanagisawa, Yoshihiro Ohno
A 67-year-old man visited our hospital with an enlarging abdominal mass several months after he had first noticed his symptoms. An elastic firm tumor was palpated on the left side of the abdomen upon physical examination. The blood test results were normal. Contrast-enhanced computed tomography of the abdomen revealed a 10-cm-diameter homogeneous low-density cystic tumor located at the dorsal portion of the gastric corpus. Enhancement of a few net-like structures was noted, but most of the lesion was not enhanced...
2018: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
M L Hemming, M C Heinrich, S Bauer, S George
Gastrointestinal stromal tumor (GIST) is the most common soft tissue sarcoma of the gastrointestinal tract and, in the vast majority of cases, is characterized by activating mutations in KIT or, less commonly, PDGFRA. Mutations in these type III receptor tyrosine kinases (RTKs) account for over 85% of GIST cases, and the majority of KIT primary mutations respond to treatment with the tyrosine kinase inhibitor (TKI) imatinib. However, drug resistance develops over time, most commonly due to secondary kinase mutations...
August 8, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Allah Rakha, Yu Na Oh, Hwan Young Lee, Safdar Hussain, Ali Muhammad Waryah, Atif Adnan, Kyoung-Jin Shin
Rapidly mutating Y-STRs (RM Y-STRs) have been paid much attention in recent years. The 13 RM Y-STRs (DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526I/II, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) have been proved to have substantially higher haplotype diversity and discrimination capacity than conventionally used Y-STRs indicating the considerable power in paternal lineage differentiation in endogamous populations, separation of which is usually impossible with standard Y-STRs. In current study, we analyzed the RM Y-STRs and PowerPlex® Y23 System in 216 male relatives from 18 deep rooted endogamous Sindhi families from Pakistan...
August 4, 2018: Legal Medicine
Heidi M Namløs, Kjetil Boye, Skyler J Mishkin, Tale Barøy, Susanne Lorenz, Bodil Bjerkehagen, Eva W Stratford, Else Munthe, Brian A Kudlow, Ola Myklebost, Leonardo A Meza-Zepeda
Molecular analysis of circulating tumour DNA (ctDNA) has a large potential for clinical application by capturing tumour-specific aberrations through non-invasive sampling. In gastrointestinal stromal tumour (GIST), analysis of KIT and PDGFRA mutations is important for therapeutic decisions, but the invasiveness of traditional biopsies limits the possibilities for repeated sampling. Using targeted next-generation sequencing, we have analysed circulating cell-free DNA from 50 GIST patients. Tumour-specific mutations were detected in 16 of 44 plasma samples (36%) from treatment-naïve patients and in 3 of 6 (50%) patients treated with tyrosine kinase inhibitors...
August 10, 2018: Molecular Cancer Therapeutics
Matthew Evans, Brendan O'Sullivan, Matthew Smith, Frances Hughes, Tina Mullis, Nicola Trim, Philippe Taniere
We make use of a very large dataset of non-small cell lung cancer specimens to examine the molecular epidemiology of EGFR mutations, particularly with respect to rare and compound mutations, and to non-adenocarcinoma histological subtypes. We also demonstrate the feasibility of large-scale EGFR mutation screening using the full range of specimens encountered in routine practice. We retrospectively reviewed 18,920 unselected EGFR mutation results from our centre between July 2009 and October 2016, using Qiagen's therascreen EGFR RGQ PCR Kit...
August 9, 2018: Pathology Oncology Research: POR
Lee S Gottesdiener, Shannon O'Connor, Klaus J Busam, Helen Won, David B Solit, David M Hyman, Alexander N Shoushtari
PURPOSE: Patients with BRAF V600-wild type melanoma whose tumors progress on checkpoint inhibition currently have limited therapeutic options, and additional rational treatment targets are needed. ERBB2 alterations may be amenable to targeted inhibition, but the rate of ERBB2 alterations across melanoma subtypes is not well described. EXPERIMENTAL DESIGN: All patients with non-uveal melanoma (cutaneous, acral, mucosal, and unknown primary) whose tumors underwent multigene sequencing with MSK-IMPACT at Memorial Sloan Kettering Cancer Center from 2014-2018 were reviewed for known or likely oncogenic somatic alterations in ERBB2 and the other known canonical driver genes BRAF , NRAS , KIT , NF1 , GNAQ , and GNA11 Results: A patient with acral melanoma resistant to checkpoint inhibition was found to have an ERBB2 amplification and achieved a durable complete response to trastuzumab emtansine...
August 9, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Vikas Madan, Lin Han, Norimichi Hattori, Weoi Woon Teoh, Anand Mayakonda, Qiao-Yang Sun, Ling-Wen Ding, Hazimah Binte Mohd Nordin, Su Lin Lim, Pavithra Shyamsunder, Pushkar Dakle, Janani Sundaresan, Ngan B Doan, Masashi Sanada, Aiko Sato-Otsubo, Manja Meggendorfer, Henry Yang, Jonathan W Said, Seishi Ogawa, Torsten Haferlach, Der-Cherng Liang, Lee-Yung Shih, Tsuyoshi Nakamaki, Q Tian Wang, H Phillip Koeffler
Chromosomal translocation t(8;21)(q22;q22) which leads to generation of oncogenic RUNX1-RUNX1T1 (AML1-ETO) fusion is observed in about 10% of acute myelogenous leukemia (AML). To uncover somatic mutations that cooperate with t(8;21)-driven leukemia, we performed whole and targeted exome sequencing of an Asian cohort at diagnosis and relapse. We identified high frequency of truncating alterations in ASXL2 along with recurrent mutations of KIT, TET2, MGA, FLT3, and DHX15 in this subtype of AML. To investigate in-depth the role of ASXL2 in normal hematopoiesis, we utilized a mouse model of ASXL2 deficiency...
August 9, 2018: Haematologica
Junya Yan, Xiaowen Wu, Jiayi Yu, Meng Ma, Huan Yu, Tianxiao Xu, Huan Tang, Longwen Xu, Jie Dai, Lu Si, Zhihong Chi, Xinan Sheng, Chuanliang Cui, Jun Guo, Yan Kong
Patient-derived xenograft (PDX) models mostly retain the histological and genetic features of their donor tumors, which have been used for investigating various types of cancer. However, PDX models for melanoma, especially acral melanoma, are reported occasionally. We aimed to establish a large panel of melanoma PDX models representing the predominant Asian melanomas. Ninety-three fresh melanoma samples were implanted subcutaneously into nonobese diabetic/severe combined immunodeficiency mice. The histological and genetic characteristics were analyzed in both patient tumors and PDX models using immunohistochemistry, PCR amplification, and Sanger sequencing...
August 6, 2018: Melanoma Research
Limor Nashelsky Zolotov, Eyal Reinstein
BACKGROUND: Nail-patella syndrome (NPS) is characterized by changes in the nails, knees, and elbows, as well as the presence of iliac horns detected by X-ray of the pelvis. A higher occurrence of psychiatric disorders has also been suggested in NPS. Heterozygous mutations in the gene encoding the LIM-homeodomain transcription factor (LMX1B) are identified in most patients with typical clinical findings of NPS. OBJECTIVES: To report on the association between NPS and schizophrenia...
August 2018: Israel Medical Association Journal: IMAJ
Daisuke Hidaka, Masahiro Onozawa, Junichi Hashiguchi, Naohiro Miyashita, Kohei Kasahara, Shinichi Fujisawa, Eiko Hayase, Kohei Okada, Souichi Shiratori, Hideki Goto, Junichi Sugita, Masao Nakagawa, Daigo Hashimoto, Kaoru Kahata, Tomoyuki Endo, Satoshi Yamamoto, Yutaka Tsutsumi, Yoshihito Haseyama, Takahiro Nagashima, Akio Mori, Shuichi Ota, Hajime Sakai, Toshimichi Ishihara, Kiyotoshi Imai, Takuto Miyagishima, Yasutaka Kakinoki, Mitsutoshi Kurosawa, Hajime Kobayashi, Hiroshi Iwasaki, Chikara Shimizu, Takeshi Kondo, Takanori Teshima
BACKGROUND: The prognostic effect of Wilms tumor 1 (WT1) expression at the diagnosis of acute myelogenous leukemia (AML) has been controversial. The aim of the present study was to determine the correlations of WT1 expression at the diagnosis of AML with established prognostic alterations. PATIENTS AND METHODS: We analyzed diagnostic bone marrow samples from 252 patients. WT1 expression, single nucleotide polymorphism (SNP) in the WT1 gene (rs16754), and Fms-like tyrosine kinase receptor-3 internal tandem duplication (FLT3-ITD) mutation were analyzed for all patients...
July 17, 2018: Clinical Lymphoma, Myeloma & Leukemia
Serge Théophile Soubeiga, Bapio Valéry Jean Telesphore Elvira Bazie, Tegwindé Rebeca Compaore, Abdoul Karim Ouattara, Théodora Mahoukèdè Zohoncon, Dorcas Obiri-Yeboah, Albert Théophane Yonli, Arsène Zongo, Lassina Traore, Virginio Pietra, Simon Akpona, Serge Diagbouga, Jacques Simpore
The emergence of HIV-1 drug resistance (HIVDR) is a public health problem that affects women and children. Local data of HIVDR is critical to improving their care and treatment. So, we investigated HIVDR in mothers and infants receiving antiretroviral therapy (ART) at Saint Camille Hospital of Ouagadougou, Burkina Faso. This study included 50 mothers and 50 infants on ART. CD4 and HIV-1 viral load were determined using FACSCount and Abbott m2000rt respectively. HIVDR was determined in patients with virologic failure using ViroSeq HIV-1 Genotyping System kit on the 3130 Genetic Analyzer...
May 21, 2018: Journal of Public Health in Africa
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