X chromosome inactivation analysis reveals a difference in the biology of ET patients with JAK2 and CALR mutations

Blood

Volumn 124, Issue 13, 2014, Pages 2091-2093

  Allen, Christopher ^a   Lambert, Jonathan R ^a   Linch, David C ^a   Gale, Rosemary E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALRETICULIN; JANUS KINASE 2;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HEMATOPOIESIS; HUMAN; MAJOR CLINICAL STUDY; MYELOPOIESIS; NEUTROPHIL; THROMBOCYTHEMIA; VERY ELDERLY; X CHROMOSOME INACTIVATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; THROMBOCYTHEMIA, ESSENTIAL; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CALRETICULIN; CHILD; FEMALE; GENOTYPE; HUMANS; JANUS KINASE 2; MIDDLE AGED; MUTATION; NEUTROPHILS; THROMBOCYTHEMIA, ESSENTIAL; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 84907286745     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-06-580183     Document Type: Article

References (23)

1. el-Kassar N, Hetet G, Brière J, Grandchamp B. Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets. Blood. 1997; 89(1): 128-134.
2. Harrison CN, Gale RE, Machin SJ, Linch DC. A large proportion of patients with a diagnosis of essential thrombocythemia do not have a clonal disorder and may be at lower risk of thrombotic complications. Blood. 1999; 93(2):417-424.
3. Chiusolo P, La Barbera EO, Laurenti L, et al. Clonal hemopoiesis and risk of thrombosis in young female patients with essential thrombocythemia. Exp Hematol. 2001; 29(6):670-676.
4. Shih LY, Lin TL, Lai CL, et al. Predictive values of X-chromosome inactivation patterns and clinicohematologic parameters for vascular complications in female patients with essential thrombocythemia. Blood. 2002; 100(5):1596-1601.
5. Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia. 2005; 19(10):1847-1849.
6. Levine RL, Belisle C, Wadleigh M, et al. X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. Blood. 2006; 107(10):4139-4141.
7. Kiladjian JJ, Elkassar N, Cassinat B, et al. Essential thrombocythemias without V617F JAK2 mutation are clonal hematopoietic stem cell disorders. Leukemia. 2006; 20(6):1181-1183.
8. Kralovics R, Teo SS, Li S, et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood. 2006; 108(4):1377-1380.
9. Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood. 2006; 108(6):1865-1867.
10. Gale RE, Allen AJ, Nash MJ, Linch DC. Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years. Blood. 2007; 109(3):1241-1243.
11. Girodon F, Schaeffer C, Cleyrat C, et al. Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy. Haematologica. 2008; 93(11):1723-1727.
12. Theocharides A, Passweg JR, Medinger M, et al. The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders. Haematologica. 2008; 93(12):1890-1893.
13. Antonioli E, Carobbio A, Pieri L, et al. Hydroxyurea does not appreciably reduce JAK2 V617F allele burden in patients with polycythemia vera or essential thrombocythemia. Haematologica. 2010; 95(8):1435-1438.
14. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006; 108(10):3472-3476.
15. Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. 2008; 112(1):141-149.
16. Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013; 369(25):2379-2390.
17. Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013; 369(25):2391-2405.
18. Rumi E, Pietra D, Ferretti V, et al; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014; 123(10):1544-1551.
19. Rotunno G, Mannarelli C, Guglielmelli P, et al; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood. 2014; 123(10):1552-1555.
20. Gale RE. Evaluation of clonality in myeloid stem-cell disorders. Semin Hematol. 1999; 36(4):361-372.
21. Beer PA, Jones AV, Bench AJ, et al. Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones. Br J Haematol. 2009; 144(6):904-908.
22. Lundberg P, Karow A, Nienhold R, et al. Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood. 2014; 123(14):2220-2228.
23. Vannucchi AM, Rotunno G, Bartalucci N, et al. Calreticulin mutation-specific immunostaining in myeloproliferative neoplasms: pathogenetic insight and diagnostic value [published online ahead of print March 12, 2014]. Leukemia.