Quantitation of the JAK2V617F mutation in microdissected bone marrow trephines: Equal mutational load in myeloid lineages and rare involvement of lymphoid cells

American Journal of Surgical Pathology

Volumn 32, Issue 6, 2008, Pages 928-935

  Kremer, Marcus ^b   Horn, Thomas ^b   Koch, Ina ^b   Dechow, Tobias ^a   Gattenloehner, Stefan ^c   Pfeiffer, Walter ^e   Quintanilla Martínez, Leticia ^d   Fend, Falko ^b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

chronic myeloproliferative disorders; hematopoetic lineage involvement; JAK2 V617F mutation; microdissection; mutational analysis

Indexed keywords

JANUS KINASE 2; JAK2 PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; GENE DOSAGE; GENE FREQUENCY; GENE MUTATION; HEMATOPOIETIC CELL; HODGKIN DISEASE; HUMAN; HUMAN TISSUE; LASER CAPTURE MICRODISSECTION; LYMPHOID CELL; MAJOR CLINICAL STUDY; MEGAKARYOCYTE; MYELOPROLIFERATIVE DISORDER; PHILADELPHIA CHROMOSOME NEGATIVE CELL; POLYMERASE CHAIN REACTION; BONE MARROW; BONE MARROW CELL; CHRONIC DISEASE; COMPARATIVE STUDY; GENETICS; LYMPHOCYTE; MUTATION; PATHOLOGY; PHYSIOLOGY; SKULL SURGERY;

BONE MARROW; CHRONIC DISEASE; HUMANS; JANUS KINASE 2; LYMPHOCYTES; MUTATION; MYELOID CELLS; MYELOPROLIFERATIVE DISORDERS; TREPHINING;

EID: 46249130558     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e31815d6305     Document Type: Article

References (48)

1. Anger B, Janssen JW, Schrezenmeier H, et al. Clonal analysis of chronic myeloproliferative disorders using X-linked DNA polymorphisms. Leukemia. 1990;4:258-261.
2. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061.
3. Bellanne-Chantelot C, Chaumarel I, Labopin M, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood. 2006;108:346-352.
4. Bellosillo B, Martinez-Aviles L, Gimeno E, et al. A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis. Leukemia. 2007;21:1331-1332.
5. Bogani C, Guglielmelli P, Antonioli E, et al. B-, T-, and NK-cell lineage involvement in JAK2V617F-positive patients with idiopathic myelofibrosis. Haematologica. 2007;92:258-259.
6. Buschle M, Janssen JW, Drexler H, et al. Evidence for pluripotent stem cell origin of idiopathic myelofibrosis: clonal analysis of a case characterized by a N-ras gene mutation. Leukemia. 1988;2:658-660.
7. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005;366:1945-1953.
8. Champion KM, Gilbert JG, Asimakopoulos FA, et al. Clonal haemopoiesis in normal elderly women: implications for the myeloproliferative disorders and myelodysplastic syndromes. Br J Haematol. 1997;97:920-926.
9. Chen Q, Lu P, Jones AV, et al. Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. J Mol Diagn. 2007;9:272-276.
10. Delhommeau F, Pisani DF, James C, et al. Oncogenic mechanisms in myeloproliferative disorders. Cell Mol Life Sci. 2006;63: 2939-2953.
11. Delhommeau F, Dupont S, Tonetti C, et al. Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. Blood. 2007;109: 71-77.
12. Fend F, Bock O, Kremer M, et al. Ancillary techniques in bone marrow pathology: molecular diagnostics on bone marrow trephine biopsies. Virchows Arch. 2005;447:909-919.
13. Fey MF, Liechti-Gallati S, von Rohr A, et al. Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe. Blood. 1994;83: 931-938.
14. Fialkow PJ, Denman AM, Jacobson RJ, et al. Chronic myelocytic leukemia. Origin of some lymphocytes from leukemic stem cells. J Clin Invest. 1978;62:815-823.
15. Florensa L, Bellosillo B, Besses C, et al. JAK2 V617F mutation analysis in different myeloid lineages (granulocytes, platelets, CFUMK, BFU-E and CFU-GM) in essential thrombocythemia patients. Leukemia. 2006;20:1903-1905.
16. Hammond E, Shaw K, Carnley B, et al. Quantitative determination of JAK2 V617F by TaqMan: an absolute measure of averaged copies per cell that may be associated with the different types of myeloproliferative disorders. J Mol Diagn. 2007;9:242-248.
17. Horn T, Kremer M, Dechow T, et al. Detection of the activating JAK2 V617F mutation in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative diseases. J Mol Diagn. 2006;8:299-304.
18. Hussein K, Brakensiek K, Ballmaier M, et al. B-CLL developing in a patient with PV is not affected by V617F mutation of the Janus kinase 2. Eur J Haematol. 2006;77:539-541.
19. Hussein K, Brakensiek K, Buesche G, et al. Different involvement of the megakaryocytic lineage by the JAK2(V617F) mutation in polycythemia vera, essential thrombocythemia and chronic idio-pathic myelofibrosis. Ann Hematol. 2007;86:245-253.
20. Ishii T, Bruno E, Hoffman R, et al. Involvement of various hematopoietic-cell lineages by the JAK2V617F mutation in poly-cythemia vera. Blood. 2006;108:3128-3134.
21. James C, Ugo V, Casadevall N, et al. A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects. Trends Mol Med. 2005;11:546-554.
22. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148.
23. Jamieson CH, Gotlib J, Durocher JA, et al. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci U S A. 2006;103:6224-6229.
24. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162-2168.
25. Kaushansky K. On the molecular origins of the chronic myelo-proliferative disorders: it all makes sense. Blood. 2005;105:4187-4190.
26. Kiladjian JJ, Elkassar N, Cassinat B, et al. Essential thrombocythe-mias without V617F JAK2 mutation are clonal hematopoietic stem cell disorders. Leukemia. 2006;20:1181-1183.
27. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30:229-236.
28. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790.
29. Kremer M, Cabras AD, Fend F, et al. PCR analysis of IgH-gene rearrangements in small lymphoid infiltrates microdissected from sections of paraffin-embedded bone marrow specimens. Hum Pathol. 2000;31:847-853.
30. Kremer M, Spitzer M, Mandl-Weber S, et al. Discordant bone marrow involvement in diffuse large B-cell lymphoma: comparative molecular analysis reveals a heterogeneous group of disorders. Lab Invest. 2003;83:107-114.
31. Larsen TS, Christensen JH, Hasselbalch HC, et al. The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of patients with Philadelphia-chromosome negative chronic myeloproliferative disorders. Br J Haematol. 2007;136: 745-751.
32. + cell fractions in myeloproliferative disorders with homozygous JAK2(V617F) in granulocytes. Br J Haematol. 2005;130:797-799.
33. Levine RL, Loriaux M, Huntly BJP, et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood. 2005;106:3377-3379.
34. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythe-mia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005; 7:387-397.
35. Malinge S, Ben-Abdelali R, Settegrana C, et al. Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia. Blood. 2007;109:2202-2204.
36. Martin PJ, Najfeld V, Hansen JA, et al. Involvement of the Blymphoid system in chronic myelogenous leukaemia. Nature. 1980;287:49-50.
37. McCarthy KP, Sloane JP, Kabarowski JHS, et al. A simplified method of detection of clonal rearrangements of the T-cell receptor gamma chain gene. Diagn Mol Pathol. 1992;1:173-179.
38. + cells into peripheral blood in myeloproliferative disorders. Blood. 2006;107:3676-3682.
39. Reeder TL, Bailey RJ, Dewald GW, et al. Both B and T lymphocytes may be clonally involved in myelofibrosis with myeloid metaplasia. Blood. 2003;101:1981-1983.
40. Scott LM, Scott MA, Campbell PJ, et al. Progenitors homozygous for the V617F JAK2 mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood. 2006:blood-2006-2004-018259.
41. Segal GH, Jorgensen T, Masih AS, et al. Optimal primer selection for clonality assessment by polymerase chain reaction analysis. Low grade B-cell lymphoproliferative disorders of nonfollicular center cells. Hum Pathol. 1994;25:1269-1275.
42. Staerk J, Kallin A, Demoulin JB, et al. JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. J Biol Chem. 2005; 280:41893-41899.
43. Tefferi A, Gilliland DG. Oncogenes in myeloproliferative disorders. Cell Cycle. 2007;6:550-566.
44. Tefferi A, Lasho TL, Gilliland G. JAK2 mutations in myeloproli-ferative disorders. N Engl J Med. 2005;353:1416-1417; author reply 1416-1417.
45. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100:2292-2302.
46. Worley J, Lee S, Ma MS, et al. Fluorescence imaging in human identity testing. Biotechniques. 1997;23:148-153.
47. Zehentner BK, Loken MR, Wells DA. JAK2V617F mutation can occur exclusively in the erythroid lineage and be absent in granulocytes and progenitor cells in classic myeloproliferative disorders. Am J Hematol. 2006;81:806-807.
48. Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005;280:22788-22792.