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Leukemia & Lymphoma Volume 53, 2012 - Issue 12
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Research Article

Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera

Roberto H. NussenzveigARUP Laboratories and Department of Pathology, University of Utah, Salt Lake City, UT, USACorrespondence[email protected]
,
Tatiana BurjanivovaDepartment of Molecular Biology
,
Mohamed E. SalamaARUP Laboratories and Department of Pathology, University of Utah, Salt Lake City, UT, USA
,
Natalie W. OgilvieARUP Laboratories and Department of Pathology, University of Utah, Salt Lake City, UT, USA
,
Juraj MarcinekDepartment of Pathology and National Consultation Center of Hematopathology, Jessenius Faculty of Medicine, Commenius University in Martin, Martin, Slovak Republic
,
Lukas PlankDepartment of Pathology and National Consultation Center of Hematopathology, Jessenius Faculty of Medicine, Commenius University in Martin, Martin, Slovak Republic
,
Archana M. AgarwalARUP Laboratories and Department of Pathology, University of Utah, Salt Lake City, UT, USA
,
Sherrie L. PerkinsARUP Laboratories and Department of Pathology, University of Utah, Salt Lake City, UT, USA
&
Josef T. PrchalARUP Laboratories and Department of Pathology, University of Utah, Salt Lake City, UT, USA;Department of Medicine and Genetics, University of Utah and VAH, Salt Lake City, UT, USACorrespondence[email protected]
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Pages 2479-2486 | Received 17 Mar 2012, Accepted 21 May 2012, Published online: 09 Jul 2012

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Roberto H. Nussenzveig, Ha T. Pham, Sherrie L. Perkins, Josef T. Prchal, Archana M. Agarwal & Mohamed E. Salama. (2016) Increased frequency of co-existing JAK2 exon-12 or MPL exon-10 mutations in patients with low JAK2 allelic burden. Leukemia & Lymphoma 57:6, pages 1429-1435.
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Velizar Shivarov, Milena Ivanova, Slavyana Yaneva, Nina Petkova, Evgueniy Hadjiev & Elissaveta Naumova. (2013) Quantitative bead-based assay for detection of JAK2 exon 12 mutations. Leukemia & Lymphoma 54:6, pages 1343-1344.
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Articles from other publishers (8)

Isaac K. S. Ng, Peak‐Ling Lee, Li Jie Ng, Rui Ping Chua, Yu‐Jin Alvin Ng, Chun Kiat Lee, Jun Guan Tan, Tim Hon Man Chan, Benedict Yan & Vishnu Prasad. (2022) Compound in‐cis JAK2 mutant polycythemia vera manifesting as first‐onset transient ischemic attack with erythrocytosis and an attenuated JAK2 V617F mutant signal on a quantitative DD‐PCR assay . International Journal of Laboratory Hematology 45:2.
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Xiao-qing Li, Jia-jun Liu & Cheng-cheng Liu. (2022) Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia. Frontiers in Oncology 12.
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Benjamin Lebecque, Victoria Grèze, Thomas Tassin, Gabrielle Mareynat, Louis‐Thomas Dannus, Nathalie Boiret‐Dupré, Richard Veyrat‐Masson, Nathalie Tribalat, Marc Gabriel Berger & Céline Bourgne. (2020) Double L611S/V617F JAK2 mutation in a child with erythrocytosis. Pediatric Blood & Cancer 68:4.
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Chien-Yu Lin, Cheng-Mao Ho, Gevorg Tamamyan, Shu-Fen Yang, Ching-Tien Peng & Jan-Gowth Chang. (2016) Validating the Sensitivity of High-Resolution Melting Analysis for JAK2 V617F Mutation in the Clinical Setting. Journal of Clinical Laboratory Analysis 30:6, pages 838-844.
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Nahla Heikal, Roberto H. Nussenzveig & Archana M. Agarwal. (2014) Deparaffinization With Mineral Oil. Applied Immunohistochemistry & Molecular Morphology 22:8, pages 623-626.
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Leila N. Varghese, Daniela Ungureanu, Nicholas P. D. Liau, Samuel N. Young, Artem Laktyushin, Henrik Hammaren, Isabelle S. Lucet, Nicos A. Nicola, Olli Silvennoinen, Jeffrey J. Babon & James M. Murphy. (2014) Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses. Biochemical Journal 458:2, pages 395-405.
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Carla Luana Dinardo, Paulo Caleb Junior Lima Santos, Isolmar Tadeu Schettert, Renata Alonso Gadi Soares, Jose Eduardo Krieger & Alexandre Costa Pereira. (2013) Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis. Genetics Research International 2013, pages 1-4.
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Kenichi Yoshida, Tsutomu Toki, Yusuke Okuno, Rika Kanezaki, Yuichi Shiraishi, Aiko Sato-Otsubo, Masashi Sanada, Myoung-ja Park, Kiminori Terui, Hiromichi Suzuki, Ayana Kon, Yasunobu Nagata, Yusuke Sato, RuNan Wang, Norio Shiba, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Hideki Muramatsu, Daisuke Hasegawa, Kazuhiro Nakamura, Hirokazu Kanegane, Keiko Tsukamoto, Souichi Adachi, Kiyoshi Kawakami, Koji Kato, Ryosei Nishimura, Shai Izraeli, Yasuhide Hayashi, Satoru Miyano, Seiji Kojima, Etsuro Ito & Seishi Ogawa. (2013) The landscape of somatic mutations in Down syndrome–related myeloid disorders. Nature Genetics 45:11, pages 1293-1299.
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