Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

被引：0

作者：

Yael Shinar

Tali Tohami

Avi Livneh

Ginette Schiby

Abraham Hirshberg

Meital Nagar

Itamar Goldstein

Rinat Cohen

Olga Kukuy

Ora Shubman

Yehonatan Sharabi

Eva Gonzalez-Roca

Juan I. Arostegui

Gideon Rechavi

Ninnette Amariglio

Ophira Salomon

机构：

[1] Tel Aviv University,Heller Institute of Medical Research, Sheba Medical Center, Tel

[2] Sheba Medical Center,Hashomer and Sackler Faculty of Medicine

[3] Tel Aviv University,Hematology Laboratory

[4] Tel Aviv University,Department of Pathology, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine

[5] Tel Aviv University,Department of Oral Pathology & Oral Medicine, The Maurice and Gabriela Goldschleger School of Dental Medicine

[6] Sheba Medical Center,Cancer Research Center, Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine

[7] Maccabi Healthcare Organization,Institute of Nephrology and Hypertension

[8] Sheba Medical Center and Sackler Faculty of Medicine,Internal Medicine D

[9] Hospital Clinic-IDIBAPS,Department of Immunology

[10] Tel Aviv University,Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine

来源：

Orphanet Journal of Rare Diseases | / 10卷

关键词：

FMF; Fever; Somatic mutation; Mosaicism; Autoinflammatory; Myelofibrosis; Polycythemia vera; JAK2;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 37 条

[21] Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis [J].

Kuempfel, T. ;

Gerdes, L-A ;

Wacker, T. ;

Blaschek, A. ;

Havla, J. ;

Krumbholz, M. ;

Poellmann, W. ;

Feneberg, W. ;

Hohlfeld, R. ;

Lohse, P. .

MULTIPLE SCLEROSIS JOURNAL, 2012, 18 (09) :1229-1238

[22] JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival [J].

A Tefferi ;

T L Lasho ;

M M Patnaik ;

C M Finke ;

K Hussein ;

W J Hogan ;

M A Elliott ;

M R Litzow ;

C A Hanson ;

A Pardanani .

Leukemia, 2010, 24 :105-109

[23] Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation [J].

Meyer, Thomas ;

Ruppert, Volker ;

Goerg, Christian ;

Neubauer, Andreas .

INTERNATIONAL JOURNAL OF HEMATOLOGY, 2010, 91 (01) :117-120

[24] Constitutive JunB expression, associated with the JAK2 V617F mutation, stimulates proliferation of the erythroid lineage [J].

Monte-Mor, B. da Costa Reis ;

Plo, I. ;

da Cunha, A. F. ;

Costa, G. G. L. ;

de Albuquerque, D. M. ;

Jedidi, A. ;

Villeval, J-L ;

Badaoui, S. ;

Lorand-Metze, I. ;

Pagnano, K. B. B. ;

Saad, S. T. O. ;

Vainchenker, W. ;

Costa, F. F. .

LEUKEMIA, 2009, 23 (01) :144-152

[25] Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia [J].

Li, Xiao-qing ;

Liu, Jia-jun ;

Liu, Cheng-cheng .

FRONTIERS IN ONCOLOGY, 2022, 12

[26] Early age onset familial Mediterranean fever associated with compound heterozygote M680I/M694V mutation [J].

Farajnia, Safar ;

Nakhlband, Ailar ;

Rafeey, Mandana ;

Sakha, Kazem .

AFRICAN JOURNAL OF BIOTECHNOLOGY, 2006, 5 (19) :1713-1716

[27] Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation [J].

Leon, Annette ;

Staropoli, John F. ;

Hernandez, Jesus M. ;

Longtine, Janina A. ;

Kuo, Frank C. ;

Dal Cin, Paola .

LEUKEMIA RESEARCH, 2011, 35 (09) :1188-1192

[28] JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5 [J].

Cleyrat, C. ;

Jelinek, J. ;

Girodon, F. ;

Boissinot, M. ;

Ponge, T. ;

Harousseau, J-L ;

Issa, J-P ;

Hermouet, S. .

LEUKEMIA, 2010, 24 (05) :1069-1073

[29] Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation [J].

Thomas Meyer ;

Volker Ruppert ;

Christian Görg ;

Andreas Neubauer .

International Journal of Hematology, 2010, 91 :117-120

[30] Leukocytosis is linked to thrombosis at diagnosis, while JAK2 V617F mutation is associated with thrombosis during the course of essential thrombocythemia [J].

Kazuma Ohyashiki ;

Toru Kiguchi ;

Yoshikazu Ito ;

Hiroaki Fujimoto ;

Akihiko Gotoh ;

Tetsuzo Tauchi ;

Keisuke Miyazawa ;

Yukihiko Kimura ;

Junko H. Ohyashiki .

International Journal of Hematology, 2008, 87 :446-448

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