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- Title
JAK2-V617F-mutated myeloproliferative neoplasms reveal different allele burden within hematopoietic cell lineages: a microdissection study of bone marrow trephine biopsies.
- Authors
Kreft, Andreas; Kindler, Thomas; Springer, Erik; Kirkpatrick, Charles; Kirkpatrick, Charles James
- Abstract
The JAK2-V617F mutation is prevalent in almost all patients with polycythemia vera (PV) and about half of the cases of essential thrombocythaemia (ET) and primary myelofibrosis (PMF). A different allele burden in these entities has long been noticed, but little is known about its distribution among the neoplastic hematopoietic cell lineages within the bone marrow. We conducted a microdissection study of JAK2-V617F-mutated myeloproliferative neoplasms (MPN); 10 cases each of ET, PV, and PMF, with separate analysis of the JAK2 mutation status in three hematopoietic cell lines (i.e., megakaryo-, granulo-, and erythropoiesis). Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in ET (17/30), higher in PV (24/30) and in PMF (22/30). The megakaryopoiesis was the most commonly mutated cell lineage (24/30 cases). By analyzing microdissectates we were able to demonstrate a different allele burden of the JAK2-V617F mutation in the megakaryo-, erythro-, and granulopoiesis within the bone marrow of a given case of MPN. We demonstrated differences in the number of mutated cell lineages. The different mutation status may contribute to the different phenotypes of ET, PV, and PMF.
- Subjects
TUMORS; MYELOPROLIFERATIVE neoplasms; CELL lines; HEMATOPOIESIS; BONE marrow; BIOPSY; MICRODISSECTION; ALLELES; COLLECTION &; preservation of biological specimens; BONE marrow diseases; CELL differentiation; ERYTHROPOIESIS; GENETIC mutation; MYELOFIBROSIS; PROTEINS; THROMBOCYTOPENIA
- Publication
Virchows Archiv: European Journal of Pathology, 2011, Vol 459, Issue 5, p521
- ISSN
0945-6317
- Publication type
journal article
- DOI
10.1007/s00428-011-1154-2