Publications:

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Recent advances in diagnosis and therapy in systemic mastocytosis.

Blood Research

Lee, Hyun Jung HJ

Publication Date: 2023-04-30

Variant appearance in text: KIT: F522C

PubMed Link: 37105564

Variant Present in the following documents:

• Main text
• br-58-s1-s96.pdf

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Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

Cancers

El Hussein, Siba S; Chifotides, Helen T HT; Khoury, Joseph D JD; Verstovsek, Srdan S; Thakral, Beenu B

Publication Date: 2022-07-17

Variant appearance in text: KIT: F522C

PubMed Link: 35884535

Variant Present in the following documents:

• Main text
• cancers-14-03474.pdf

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The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms.

Leukemia

Khoury, Joseph D JD; Solary, Eric E; Abla, Oussama O; Akkari, Yassmine Y; Alaggio, Rita R; Apperley, Jane F JF; Bejar, Rafael R; Berti, Emilio E; Busque, Lambert L; Chan, John K C JKC; Chen, Weina W; Chen, Xueyan X; Chng, Wee-Joo WJ; Choi, John K JK; Colmenero, Isabel I; Coupland, Sarah E SE; Cross, Nicholas C P NCP; De Jong, Daphne D; Elghetany, M Tarek MT; Takahashi, Emiko E; Emile, Jean-Francois JF; Ferry, Judith J; Fogelstrand, Linda L; Fontenay, Michaela M; Germing, Ulrich U; Gujral, Sumeet S; Haferlach, Torsten T; Harrison, Claire C; Hodge, Jennelle C JC; Hu, Shimin S; Jansen, Joop H JH; Kanagal-Shamanna, Rashmi R; Kantarjian, Hagop M HM; Kratz, Christian P CP; Li, Xiao-Qiu XQ; Lim, Megan S MS; Loeb, Keith K; Loghavi, Sanam S; Marcogliese, Andrea A; Meshinchi, Soheil S; Michaels, Phillip P; Naresh, Kikkeri N KN; Natkunam, Yasodha Y; Nejati, Reza R; Ott, German G; Padron, Eric E; Patel, Keyur P KP; Patkar, Nikhil N; Picarsic, Jennifer J; Platzbecker, Uwe U; Roberts, Irene I; Schuh, Anna A; Sewell, William W; Siebert, Reiner R; Tembhare, Prashant P; Tyner, Jeffrey J; Verstovsek, Srdan S; Wang, Wei W; Wood, Brent B; Xiao, Wenbin W; Yeung, Cecilia C; Hochhaus, Andreas A

Publication Date: 2022-07

Variant appearance in text: KIT: F522C

PubMed Link: 35732831

Variant Present in the following documents:

• Main text
• 41375_2022_Article_1613.pdf

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Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers

González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC

Publication Date: 2022-05-18

Variant appearance in text: KIT: F522C

PubMed Link: 35626091

Variant Present in the following documents:

• Main text
• cancers-14-02487.pdf

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Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences

Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A

Publication Date: 2022-04-23

Variant appearance in text: KIT: F522C

PubMed Link: 35563085

Variant Present in the following documents:

• ijms-23-04694.pdf

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Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal.

Hemasphere

Valent, Peter P; Akin, Cem C; Hartmann, Karin K; Alvarez-Twose, Ivan I; Brockow, Knut K; Hermine, Olivier O; Niedoszytko, Marek M; Schwaab, Juliana J; Lyons, Jonathan J JJ; Carter, Melody C MC; Elberink, Hanneke Oude HO; Butterfield, Joseph H JH; George, Tracy I TI; Greiner, Georg G; Ustun, Celalettin C; Bonadonna, Patrizia P; Sotlar, Karl K; Nilsson, Gunnar G; Jawhar, Mohamad M; Siebenhaar, Frank F; Broesby-Olsen, Sigurd S; Yavuz, Selim S; Zanotti, Roberta R; Lange, Magdalena M; Nedoszytko, Boguslaw B; Hoermann, Gregor G; Castells, Mariana M; Radia, Deepti H DH; Muñoz-Gonzalez, Javier I JI; Sperr, Wolfgang R WR; Triggiani, Massimo M; Kluin-Nelemans, Hanneke C HC; Galli, Stephen J SJ; Schwartz, Lawrence B LB; Reiter, Andreas A; Orfao, Alberto A; Gotlib, Jason J; Arock, Michel M; Horny, Hans-Peter HP; Metcalfe, Dean D DD

Publication Date: 2021-11

Variant appearance in text: KIT: F522C

PubMed Link: 34901755

Variant Present in the following documents:

• Main text
• hs9-5-e646.pdf

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Precision Medicine in Systemic Mastocytosis.

Medicina (Kaunas, Lithuania)

Nicolosi, Maura M; Patriarca, Andrea A; Andorno, Annalisa A; Mahmoud, Abdurraouf Mokhtar AM; Gennari, Alessandra A; Boldorini, Renzo R; Gaidano, Gianluca G; Crisà, Elena E

Publication Date: 2021-10-20

Variant appearance in text: KIT: F522C

PubMed Link: 34833353

Variant Present in the following documents:

• Main text
• medicina-57-01135.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KIT: F522C

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach.

Cancers

Zanelli, Magda M; Pizzi, Marco M; Sanguedolce, Francesca F; Zizzo, Maurizio M; Palicelli, Andrea A; Soriano, Alessandra A; Bisagni, Alessandra A; Martino, Giovanni G; Caprera, Cecilia C; Moretti, Marina M; Masia, Francesco F; De Marco, Loredana L; Froio, Elisabetta E; Foroni, Moira M; Bernardelli, Giuditta G; Alvarez de Celis, Maria Isabel MI; Giunta, Alessandro A; Merli, Francesco F; Ascani, Stefano S

Publication Date: 2021-07-01

Variant appearance in text: KIT: F522C

PubMed Link: 34282774

Variant Present in the following documents:

• Main text
• cancers-13-03316.pdf

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Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.

Mediterranean Journal Of Hematology And Infectious Diseases

Monaldi, Cecilia C; De Santis, Sara S; Mancini, Manuela M; Bruno, Samantha S; Cavo, Michele M; Soverini, Simona S

Publication Date: 2021

Variant appearance in text: KIT: F522C

PubMed Link: 34276915

Variant Present in the following documents:

• Main text

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Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.

International Journal Of Molecular Sciences

Lange, Magdalena M; Hartmann, Karin K; Carter, Melody C MC; Siebenhaar, Frank F; Alvarez-Twose, Ivan I; Torrado, Inés I; Brockow, Knut K; Renke, Joanna J; Irga-Jaworska, Ninela N; Plata-Nazar, Katarzyna K; Ługowska-Umer, Hanna H; Czarny, Justyna J; Belloni Fortina, Anna A; Caroppo, Francesca F; Nowicki, Roman J RJ; Nedoszytko, Bogusław B; Niedoszytko, Marek M; Valent, Peter P

Publication Date: 2021-03-04

Variant appearance in text: KIT: F522C

PubMed Link: 33806685

Variant Present in the following documents:

• Main text

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Response Criteria in Advanced Systemic Mastocytosis: Evolution in the Era of KIT Inhibitors.

International Journal Of Molecular Sciences

Shomali, William W; Gotlib, Jason J

Publication Date: 2021-03-15

Variant appearance in text: KIT: F522C

PubMed Link: 33804174

Variant Present in the following documents:

• Main text
• ijms-22-02983.pdf

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Real-World Efficacy of Midostaurin in Aggressive Systemic Mastocytosis.

Journal Of Clinical Medicine

Szudy-Szczyrek, Aneta A; Bachanek-Mitura, Oliwia O; Gromek, Tomasz T; Chromik, Karolina K; Mital, Andrzej A; Szczyrek, Michał M; Krupski, Witold W; Szumiło, Justyna J; Kanduła, Zuzanna Z; Helbig, Grzegorz G; Hus, Marek M

Publication Date: 2021-03-07

Variant appearance in text: KIT: F522C

PubMed Link: 33799933

Variant Present in the following documents:

• Main text

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Vascular endothelial growth factors and angiopoietins as new players in mastocytosis.

Clinical And Experimental Medicine

Marcella, Simone S; Petraroli, Angelica A; Braile, Mariantonia M; Parente, Roberta R; Ferrara, Anne Lise AL; Galdiero, Maria Rosaria MR; Modestino, Luca L; Cristinziano, Leonardo L; Rossi, Francesca Wanda FW; Varricchi, Gilda G; Triggiani, Massimo M; de Paulis, Amato A; Spadaro, Giuseppe G; Loffredo, Stefania S

Publication Date: 2021-08

Variant appearance in text: KIT: F522C

PubMed Link: 33687603

Variant Present in the following documents:

• Main text
• 10238_2021_Article_693.pdf

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Mast Cell Activation Disorders.

Medicina (Kaunas, Lithuania)

Giannetti, Arianna A; Filice, Emanuele E; Caffarelli, Carlo C; Ricci, Giampaolo G; Pession, Andrea A

Publication Date: 2021-01-30

Variant appearance in text: C-Kit: F522C

PubMed Link: 33573161

Variant Present in the following documents:

• Main text
• medicina-57-00124.pdf

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Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis.

Theranostics

Kluin-Nelemans, Hanneke C HC; Jawhar, Mohamad M; Reiter, Andreas A; van Anrooij, Bjorn B; Gotlib, Jason J; Hartmann, Karin K; Illerhaus, Anja A; Oude Elberink, Hanneke N G HNG; Gorska, Aleksandra A; Niedoszytko, Marek M; Lange, Magdalena M; Scaffidi, Luigi L; Zanotti, Roberta R; Bonadonna, Patrizia P; Perkins, Cecelia C; Elena, Chiara C; Malcovati, Luca L; Shoumariyeh, Khalid K; von Bubnoff, Nikolas N; Müller, Sabine S; Triggiani, Massimo M; Parente, Roberta R; Schwaab, Juliana J; Kundi, Michael M; Fortina, Anna Belloni AB; Caroppo, Francesca F; Brockow, Knut K; Zink, Alexander A; Fuchs, David D; Angelova-Fischer, Irena I; Yavuz, Akif Selim AS; Doubek, Michael M; Mattsson, Mattias M; Hagglund, Hans H; Panse, Jens J; Simonowski, Anne A; Sabato, Vito V; Schug, Tanja T; Jentzsch, Madlen M; Breynaert, Christine C; Várkonyi, Judit J; Kennedy, Vanessa V; Hermine, Olivier O; Rossignol, Julien J; Arock, Michel M; Valent, Peter P; Sperr, Wolfgang R WR

Publication Date: 2021

Variant appearance in text: KIT: F522C

PubMed Link: 33391475

Variant Present in the following documents:

• Main text
• thnov11p0292.pdf

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Systemic Mastocytosis: Following the Tyrosine Kinase Inhibition Roadmap.

Frontiers In Pharmacology

Piris-Villaespesa, Miguel M; Alvarez-Twose, Ivan I

Publication Date: 2020

Variant appearance in text: KIT: F522C

PubMed Link: 32346366

Variant Present in the following documents:

• Main text
• fphar-11-00443.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KIT: F522C

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Jawhar, Mohamad M; Schwaab, Juliana J; Álvarez-Twose, Iván I; Shoumariyeh, Khalid K; Naumann, Nicole N; Lübke, Johannes J; Perkins, Cecelia C; Muñoz-González, Javier I JI; Meggendorfer, Manja M; Kennedy, Vanessa V; Metzgeroth, Georgia G; Fabarius, Alice A; Pfeifer, Dietmar D; Sotlar, Karl K; Horny, Hans-Peter HP; von Bubnoff, Nikolas N; Haferlach, Torsten T; Cross, Nicholas C P NCP; Hofmann, Wolf-Karsten WK; Sperr, Wolfgang R WR; García-Montero, Andrés C AC; Valent, Peter P; Gotlib, Jason J; Orfao, Alberto A; Reiter, Andreas A

Publication Date: 2019-11-01

Variant appearance in text: KIT: F522C

PubMed Link: 31509472

Variant Present in the following documents:

• JCO.19.00640.pdf

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Novel approaches to treating advanced systemic mastocytosis.

Clinical Pharmacology : Advances And Applications

Gilreath, J A JA; Tchertanov, L L; Deininger, M W MW

Publication Date: 2019

Variant appearance in text: KIT: Phe522Cys

PubMed Link: 31372066

Variant Present in the following documents:

• Main text
• cpaa-11-77.pdf

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Well-differentiated systemic mastocytosis with KIT K509I mutation and uterus infiltration in an Asian woman with good response to imatinib.

Chinese Medical Journal

Zhao, Duo-Duo DD; Zhang, Lu L; Li, Wen-Qin WQ; Duan, Ming-Hui MH; Zhuang, Jun-Ling JL; Zhou, Dao-Bin DB

Publication Date: 2019-08-20

Variant appearance in text: KIT: F522C

PubMed Link: 31335472

Variant Present in the following documents:

• Main text
• cm9-132-2002.pdf

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More than the sum of the parts: Toward full-length receptor tyrosine kinase structures.

Iubmb Life

Diwanji, Devan D; Thaker, Tarjani T; Jura, Natalia N

Publication Date: 2019-06

Variant appearance in text: KIT: F522C

PubMed Link: 31046201

Variant Present in the following documents:

• Main text

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The new tool "KIT" in advanced systemic mastocytosis.

Hematology. American Society Of Hematology. Education Program

Shomali, William W; Gotlib, Jason J

Publication Date: 2018-11-30

Variant appearance in text: KIT: F522C

PubMed Link: 30504301

Variant Present in the following documents:

• Main text

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Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine

Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F

Publication Date: 2018-11-15

Variant appearance in text: KIT: F522C

PubMed Link: 30442178

Variant Present in the following documents:

• 13073_2018_591_MOESM4_ESM.xlsx, sheet 1

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Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature.

Oncotarget

Alvarez-Twose, Iván I; Matito, Almudena A; Morgado, José Mário JM; Sánchez-Muñoz, Laura L; Jara-Acevedo, María M; García-Montero, Andrés A; Mayado, Andrea A; Caldas, Carolina C; Teodósio, Cristina C; Muñoz-González, Javier Ignacio JI; Mollejo, Manuela M; Escribano, Luis L; Orfao, Alberto A

Publication Date: 2017-09-15

Variant appearance in text: KIT: F522C

PubMed Link: 28978170

Variant Present in the following documents:

• Main text
• oncotarget-08-68950.pdf

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Targeted Treatment Options in Mastocytosis.

Frontiers In Medicine

Vaes, Mélanie M; Benghiat, Fleur Samantha FS; Hermine, Olivier O

Publication Date: 2017

Variant appearance in text: KIT: F522C

PubMed Link: 28775983

Variant Present in the following documents:

• Main text

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Mastocytosis: from a Molecular Point of View.

Clinical Reviews In Allergy & Immunology

Komi, Daniel Elieh Ali DEA; Rambasek, Todd T; Wöhrl, Stefan S

Publication Date: 2018-06

Variant appearance in text: KIT: F522C

PubMed Link: 28725969

Variant Present in the following documents:

• Main text

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Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology

Conde-Fernandes, Iolanda I; Sampaio, Rita R; Moreno, Filipa F; Palla-Garcia, José J; Teixeira, Maria Dos Anjos MDA; Freitas, Inês I; Neves, Esmeralda E; Jara-Acevedo, Maria M; Escribano, Luis L; Lima, Margarida M

Publication Date: 2017

Variant appearance in text: KIT: F522C

PubMed Link: 28439288

Variant Present in the following documents:

• Main text
• 13223_2017_Article_193.pdf

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The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm.

Haematologica

Jawhar, Mohamad M; Schwaab, Juliana J; Meggendorfer, Manja M; Naumann, Nicole N; Horny, Hans-Peter HP; Sotlar, Karl K; Haferlach, Torsten T; Schmitt, Karla K; Fabarius, Alice A; Valent, Peter P; Hofmann, Wolf-Karsten WK; Cross, Nicholas C P NCP; Metzgeroth, Georgia G; Reiter, Andreas A

Publication Date: 2017-06

Variant appearance in text: KIT: F522C

PubMed Link: 28255023

Variant Present in the following documents:

• Main text
• 1021035.pdf

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Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future.

Cancer Research

Valent, Peter P; Akin, Cem C; Hartmann, Karin K; Nilsson, Gunnar G; Reiter, Andreas A; Hermine, Olivier O; Sotlar, Karl K; Sperr, Wolfgang R WR; Escribano, Luis L; George, Tracy I TI; Kluin-Nelemans, Hanneke C HC; Ustun, Celalettin C; Triggiani, Massimo M; Brockow, Knut K; Gotlib, Jason J; Orfao, Alberto A; Schwartz, Lawrence B LB; Broesby-Olsen, Sigurd S; Bindslev-Jensen, Carsten C; Kovanen, Petri T PT; Galli, Stephen J SJ; Austen, K Frank KF; Arber, Daniel A DA; Horny, Hans-Peter HP; Arock, Michel M; Metcalfe, Dean D DD

Publication Date: 2017-03-15

Variant appearance in text: KIT: F522C

PubMed Link: 28254862

Variant Present in the following documents:

• Main text

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Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts.

Blood

Valent, Peter P; Akin, Cem C; Metcalfe, Dean D DD

Publication Date: 2017-03-16

Variant appearance in text: KIT: F522C

PubMed Link: 28031180

Variant Present in the following documents:

• Main text

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Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Cell & Bioscience

Ke, Hengning H; Kazi, Julhash U JU; Zhao, Hui H; Sun, Jianmin J

Publication Date: 2016

Variant appearance in text: KIT: F522C

PubMed Link: 27777718

Variant Present in the following documents:

• Main text
• 13578_2016_Article_120.pdf

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Well-differentiated systemic mastocytosis showed excellent clinical response to imatinib in the absence of known molecular genetic abnormalities: A case report.

Medicine

Huang, Lanshan L; Wang, Sa A SA; Konoplev, Sergej S; Bueso-Ramos, Carlos E CE; Thakral, Beenu B; Miranda, Roberto N RN; Jabbour, Elias E; Medeiros, L Jeffrey LJ; Kanagal-Shamanna, Rashmi R

Publication Date: 2016-10

Variant appearance in text: KIT: Phe522Cys

PubMed Link: 27741105

Variant Present in the following documents:

• Main text

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A scientific treatment approach for acute mast cell leukemia: using a strategy based on next-generation sequencing data.

Blood Research

Youk, Jeonghwan J; Koh, Youngil Y; Kim, Ji-Won JW; Kim, Dae-Yoon DY; Park, Hyunkyung H; Jung, Woo June WJ; Ahn, Kwang-Sung KS; Yun, Hongseok H; Park, Inho I; Sun, Choong-Hyun CH; Lee, Seungmook S; Yoon, Sung-Soo SS

Publication Date: 2016-03

Variant appearance in text: KIT: F522C

PubMed Link: 27104187

Variant Present in the following documents:

• Main text
• br-51-17.pdf

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Ruxolitinib improves symptoms and quality of life in a patient with systemic mastocytosis.

Biomarker Research

Yacoub, Abdulraheem A; Prochaska, Lindsey L

Publication Date: 2016

Variant appearance in text: KIT: Phe522Cys

PubMed Link: 26855781

Variant Present in the following documents:

• Main text
• 40364_2016_Article_56.pdf

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KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome.

Bmc Cancer

Brahmi, Mehdi M; Alberti, Laurent L; Dufresne, Armelle A; Ray-Coquard, Isabelle I; Cassier, Philippe P; Meeus, Pierre P; Decouvelaere, Anne-Valérie AV; Ranchère-Vince, Dominique D; Blay, Jean-Yves JY

Publication Date: 2015-10-24

Variant appearance in text: KIT: F522C

PubMed Link: 26498480

Variant Present in the following documents:

• Main text

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Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Oncotarget

Chatterjee, Anindya A; Ghosh, Joydeep J; Kapur, Reuben R

Publication Date: 2015-07-30

Variant appearance in text: KIT: F522C

PubMed Link: 26158763

Variant Present in the following documents:

• Main text

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Targeting phosphatidylinositol-3-kinase pathway for the treatment of Philadelphia-negative myeloproliferative neoplasms.

Molecular Cancer

Pandey, Ruchi R; Kapur, Reuben R

Publication Date: 2015-06-11

Variant appearance in text: KIT: F522C

PubMed Link: 26062813

Variant Present in the following documents:

• Main text

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